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Thomas Bird

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Wei Zhao; Thomas D Bird; Charles Y K Cheung; Elizabeth E Marchani; Gerard D Schellenberg; Ellen J Steinbart; Ellen M Wijsman
Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset.
Estela Area-Gomez; Thomas D Bird; Ad J C de Groof; Maria Del Carmen Lara Castillo; Cristina Guardia-Laguarta; Junichi Ikenouchi; Moneek Madra; Stephen L Sturley; Marc D Tambini; Masato Umeda; Eric A Schon
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
S Barral; David A Bennett; Thomas D Bird; B F Boeve; Ramon Diaz-Arrastia; M R Farlow; Tatiana Foroud; A Goate; N Graff-Radford; Richard Mayeux; Jurg Ott; Yaakov Stern; R A Sweet; R S Wilson
Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory.

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2013: Wei Zhao; Thomas D Bird; Charles Y K Cheung; Elizabeth E Marchani; Gerard D Schellenberg; Ellen J Steinbart; Ellen M Wijsman
Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013;162B(2):201-12.
2012: Estela Area-Gomez; Thomas D Bird; Ad J C de Groof; Maria Del Carmen Lara Castillo; Cristina Guardia-Laguarta; Junichi Ikenouchi; Moneek Madra; Stephen L Sturley; Marc D Tambini; Masato Umeda; Eric A Schon
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
The EMBO journal 2012;31(21):4106-23.
2012: S Barral; David A Bennett; Thomas D Bird; B F Boeve; Ramon Diaz-Arrastia; M R Farlow; Tatiana Foroud; A Goate; N Graff-Radford; Richard Mayeux; Jurg Ott; Yaakov Stern; R A Sweet; R S Wilson
Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory.
Neurology 2012;78(19):1464-71.
2012: Dong-Hui Chen; Wendy H Raskind; Thomas D Bird
Spinocerebellar ataxia type 14.
Handbook of clinical neurology 2012;103():555-9.
2011: Yoonha Choi; Elizabeth E Marchani; Ellen J Steinbart; Thomas D Bird; Deborah Blacker; Ellen M Wijsman
Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(7):785-98.
2011: Katrina Gwinn-Hardy; John Hardy; Henry Houlden; Lee-Way Jin; Janel Johnson; Grisel Lopez; MD Muenter; Charles H Adler; Thomas D Bird; Richard Caselli; Michael J Devine; Amanda Singleton; Cheryl Waters; Andrew Singleton
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).
Movement disorders : official journal of the Movement Disorder Society 2011;26(11):2134-6.
2011: Jill S Goldman; Susan E Hahn; Susan LaRusse-Eckert; Richard Mayeux; J Scott Roberts; Malia Rumbaugh; Michelle N Strecker; Thomas D Bird; Wylie Burke; Melissa Barber Butson; Jennifer Williamson Catania
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(6):597-605.
2011: Adam C Naj; Gyungah Jun; Gary Beecham; Li-San Wang; Badri Narayan Vardarajan; Jacqueline Buros; Paul J Gallins; Joseph Buxbaum; Gail P Jarvik; Paul K Crane; Eric B Larson; Thomas D Bird; Bradley F Boeve; Neill R Graff-Radford; Philip L De Jager; Denis Evans; Julie A Schneider; Minerva M Carrasquillo; Nilufer Ertekin-Taner; Steven G Younkin; Carlos Cruchaga; John S K Kauwe; Petra Nowotny; Patricia Kramer; John Hardy; Matthew Huentelman; Amanda Myers; M. Michael Barmada; F Yesim Demirci; Clinton T Baldwin; Robert C Green; Ekaterina Rogaeva; Steven E Arnold; Robert C Barber; Thomas Beach; Eileen H Bigio; James D Bowen; Adam Boxer; James R Burke; Nigel J Cairns; Chris S Carlson; Regina M Carney; Steven L Carroll; Helena C Chui; David G Clark; Jason Corneveaux; Carl W Cotman; Jeffrey L Cummings; Charles DeCarli; Steven T DeKosky; Ramon Diaz-Arrastia; Malcolm Dick; dennis dickson; William G Ellis; Kelley M Faber; Kenneth B Fallon; Martin R Farlow; Steven Ferris; Matthew P Frosch; Douglas Galasko; Mary Ganguli; Marla Gearing; Daniel Geschwind; Bernardino Ghetti; John Gilbert; Sid Gilman; Bruno Giordani; Jonathan D Glass; John H Growdon; Ronald L Hamilton; Lindy E Harrell; Elizabeth Head; Lawrence Honig; Christine M Hulette; Bradley T Hyman; Gregory A Jicha; Lee-Way Jin; Nancy Johnson; Jason Karlawish; Anna Karydas; Jeffrey A Kaye; Ronald Kim; Edward H Koo; Neil W Kowall; James J Lah; Allan Levey; Andrew P Lieberman; Oscar L Lopez; Wendy J Mack; Daniel C Marson; Frank Martiniuk; Deborah C Mash; Eliezer Masliah; Wayne C McCormick; Susan M McCurry; Andrew N McDavid; Ann C McKee; Marsel Mesulam; Bruce L Miller; Carol A Miller; Joshua Miller; Joseph E Parisi; Daniel P Perl; Elaine Peskind; Ronald C. Petersen; Wayne W Poon; Joseph F Quinn; Ruchita A Rajbhandary; Murray Raskind; Barry Reisberg; John M Ringman; Erik D Roberson; Roger N Rosenberg; Mary Sano; Lon S Schneider; William Seeley; Michael L Shelanski; Michael Slifer; Charles D Smith; Joshua A Sonnen; Salvatore Spina; Robert A Stern; Rudolph E Tanzi; John Q Trojanowski; Juan C Troncoso; Vivianna M Van Deerlin; Harry V Vinters; Jean Paul Vonsattel; Sandra Weintraub; Kathleen A Welsh-Bohmer; Jennifer Williamson; Randall L Woltjer; Laura B Cantwell; Beth A Dombroski; Duane Beekly; Kathryn L Lunetta; Eden R Martin; M Ilyas Kamboh; Andrew J Saykin; Eric Reiman; David A Bennett; John C Morris; Thomas J Montine; Alison Goate; Deborah Blacker; Debby W Tsuang; Hakon Hakonarson; Walter A Kukull; Tatiana M Foroud; Jonathan L Haines; Richard Mayeux; Margaret Pericak-Vance; Lindsay Farrer; Peter St George-Hyslop; Gerard D Schellenberg
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Nature genetics 2011;43(5):436-41.
2011: Alice S Chen-Plotkin; Maria Martinez-Lage; Patrick M A Sleiman; William Hu; Robert Greene; Elisabeth McCarty Wood; Shaoxu Bing; Murray Grossman; Gerard D Schellenberg; Kimmo J Hatanpaa; Myron F Weiner; Charles L White; William S Brooks; Glenda M Halliday; Jillian J Kril; Marla Gearing; Thomas Beach; Neill R Graff-Radford; dennis dickson; Rosa Rademakers; Bradley F Boeve; Stuart M Pickering-Brown; Julie Snowden; John C van Swieten; Peter Heutink; Harro Seelaar; Jill R Murrell; Bernardino Ghetti; Salvatore Spina; Jordan Grafman; Jeffrey A Kaye; Randall L Woltjer; Marsel Mesulam; Eileen Bigio; Albert Lladó; Bruce L Miller; Ainhoa Alzualde; Fermin Moreno; Jonathan D Rohrer; Ian R A Mackenzie; Howard H Feldman; Ronald L Hamilton; Marc Cruts; Sebastiaan Engelborghs; Peter P De Deyn; Christine Van Broeckhoven; Thomas D Bird; Nigel J Cairns; Alison Goate; Matthew P Frosch; Peter F Riederer; Nenad Bogdanovic; Virginia M-Y Lee; John Q Trojanowski; Vivianna M Van Deerlin
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Archives of neurology 2011;68(4):488-97.
2011: Suman Jayadev; David Nochlin; Parvoneh Poorkaj-Navas; Ellen J Steinbart; James A Mastrianni; Thomas J Montine; Bernardino Ghetti; Gerard D Schellenberg; Thomas D Bird; James B Leverenz
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.
Annals of neurology 2011;69(4):712-20.
2011: Hirotaka Tao; J Robert Manak; Levi Sowers; Xue Mei; Hiroshi Kiyonari; Takaya Abe; Nader S Dahdaleh; Tian Yang; Shu Wu; Shan Chen; Mark H Fox; Christina Gurnett; Thomas Montine; Thomas D Bird; Lisa G Shaffer; Jill A Rosenfeld; Juliann McConnell; Suneeta Madan-Khetarpal; Elizabeth Berry-Kravis; Hilary Griesbach; Russell P Saneto; Matthew P Scott; Dragana Antic; Jordan Reed; Riley Boland; Salleh N Ehaideb; Hatem El-Shanti; Vinit B Mahajan; Polly J Ferguson; Jeffrey D Axelrod; Anna-Elina Lehesjoki; Bernd Fritzsch; Diane C Slusarski; John Wemmie; Naoto Ueno; Alexander G Bassuk
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
American journal of human genetics 2011;88(2):138-49.
2011: Ellen M Wijsman; Nathan D Pankratz; Yoonha Choi; Joseph H Rothstein; Kelley M Faber; Rong Cheng; Joseph H Lee; Thomas D Bird; David A Bennett; Ramon Diaz-Arrastia; Alison Goate; Martin R Farlow; Bernardino Ghetti; Robert A Sweet; Tatiana M Foroud; Richard Mayeux
Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.
PLoS genetics 2011;7(2):e1001308.
2011: John M Ringman; Karen H Gylys; Luis D Medina; Michelle Fox; Vladimir Kepe; Deborah L Flores; Liana G Apostolova; Jorge R Barrio; Gary W Small; Daniel H S Silverman; Erin Siu; Stephen Cederbaum; Silva Hecimovic; Martina Malnar; Suma Chakraverty; Alison Goate; Thomas D Bird; James B Leverenz
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.
Neuroscience letters 2011;487(3):287-92.
2011: Karla P Figueroa; Michael F Waters; Vartan Garibyan; Thomas D Bird; Christopher M Gomez; Laura P W Ranum; Natali A Minassian; Diane M Papazian; Stef pulst
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PloS one 2011;6(3):e17811.
2011: Robert S Wilson; Sandra Barral; Joseph H Lee; S Leurgans; Tatiana M Foroud; Robert A Sweet; Neill Graff-Radford; Thomas D Bird; Richard Mayeux; David A Bennett
Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study.
Journal of Alzheimer's disease : JAD 2011;23(2):249-55.
2010: Lynn M Bekris; Chang-En Yu; Thomas D Bird; Debby W Tsuang
Genetics of Alzheimer disease.
Journal of geriatric psychiatry and neurology 2010;23(4):213-27.
2010: Debby W Tsuang; Suman Jayadev; Thomas D Bird
Updates on the genetics of neurodegenerative disorders.
Journal of geriatric psychiatry and neurology 2010;23(4):211-2.
2010: Thomas D Bird
Approaches to the patient with neurogenetic disease.
Clinics in laboratory medicine 2010;30(4):785-93.
2010: D-H Chen; Y Sul; M Weiss; A Hillel; H Lipe; J Wolff; M Matsushita; W Raskind; Thomas D Bird
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
Neurology 2010;75(22):1968-75.
2010: Denise M Kay; C F Stevens; Taye H Hamza; Jennifer S Montimurro; Cyrus Zabetian; Stewart A Factor; Ali Samii; Alida Griffith; John W Roberts; E S Molho; Donald S Higgins; S Gancher; Lina Moses; S Zareparsi; Parvoneh Poorkaj-Navas; Thomas D Bird; John G Nutt; Gerard D Schellenberg; Haydeh Payami
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2.
Neurology 2010;75(13):1189-94.
2010: Dong-Hui Chen; Wendy H Raskind; William W Parson; Joshua A Sonnen; Tiffany Vu; Yunlin Zheng; Mark Matsushita; John Wolff; Hillary Lipe; Thomas D Bird
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
Journal of the neurological sciences 2010;296(1-2):22-9.
2010: Parvoneh Poorkaj-Navas; Wendy H Raskind; James B Leverenz; Mark Matsushita; Cyrus P Zabetian; Ali Samii; Sophia Kim; Nayiry Gazi; John G Nutt; John Wolff; Dora Yearout; J Lynne Greenup; Ellen J Steinbart; Thomas D Bird
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
Movement disorders : official journal of the Movement Disorder Society 2010;25(10):1409-17.
2010: Randall L Woltjer; Kevin Duerson; Joseph M Fullmer; Paramita Mookherjee; Allison M Ryan; Thomas J Montine; Jeffrey A Kaye; Joseph F Quinn; Lisa Silbert; Deniz Erten-Lyons; James B Leverenz; Thomas D Bird; David V Pow; Kohichi Tanaka; G Stennis Watson; David G Cook
Aberrant detergent-insoluble excitatory amino acid transporter 2 accumulates in Alzheimer disease.
Journal of neuropathology and experimental neurology 2010;69(7):667-76.
2010: Elizabeth E Marchani; Thomas D Bird; Ellen J Steinbart; Elisabeth Rosenthal; Chang-En Yu; Gerard D Schellenberg; Ellen M Wijsman
Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(5):1031-41.
2010: Chang-En Yu; Elizabeth Marchani; Georg Nikisch; Ulrich Müller; Dagmar Nolte; Andreas Hertel; Ellen M Wijsman; Thomas D Bird
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
Archives of neurology 2010;67(5):631-3.
2010: Suman Jayadev; James B Leverenz; Ellen Steinbart; Justin Stahl; William Klunk; Cheng-En Yu; Thomas D Bird
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Brain : a journal of neurology 2010;133(Pt 4):1143-54.
2010: Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; chris hall; James Y Garbern
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
American journal of human genetics 2010;86(3):343-52.
2010: Vivianna M Van Deerlin; Patrick M A Sleiman; Maria Martinez-Lage; Alice Chen-Plotkin; Li-San Wang; Neill R Graff-Radford; dennis dickson; Rosa Rademakers; Bradley F Boeve; Murray Grossman; Steven E Arnold; D M A Mann; Stuart M Pickering-Brown; Harro Seelaar; Peter Heutink; John C van Swieten; Jill R Murrell; Bernardino Ghetti; Salvatore Spina; Jordan Grafman; John R Hodges; Maria Grazia Spillantini; Sid Gilman; Andrew P Lieberman; Jeffrey A Kaye; Randall L Woltjer; Eileen H Bigio; Marsel Mesulam; Safa Al-Sarraj; Claire Troakes; Roger N Rosenberg; Charles L White; Isidro Ferrer; Albert Lladó; Manuela Neumann; Hans A Kretzschmar; Christine Marie Hulette; Kathleen A Welsh-Bohmer; Bruce L Miller; Ainhoa Alzualde; Adolfo Lopez de Munain; Ann C McKee; Marla Gearing; Allan Levey; James J Lah; John Hardy; Jonathan D Rohrer; Tammaryn Lashley; Ian R A Mackenzie; Howard H Feldman; Ronald L Hamilton; Steven T DeKosky; Julie van der Zee; Samir Kumar-Singh; Christine Van Broeckhoven; Richard Mayeux; Jean Paul G Vonsattel; Juan C Troncoso; Jillian J Kril; John B J Kwok; Glenda M Halliday; Thomas D Bird; Paul Geoffrey Ince; Pamela J Shaw; Nigel J Cairns; John C Morris; Catriona Ann McLean; Charles DeCarli; William G Ellis; Stefanie H Freeman; Matthew P Frosch; John H Growdon; Daniel P Perl; Mary Sano; David A Bennett; Julie A Schneider; Thomas Beach; Eric Reiman; Bryan Woodruff; Jeffrey L Cummings; Harry V Vinters; Carol A Miller; Helena C Chui; Irina Alafuzoff; Päivi Hartikainen; Danielle Seilhean; Douglas Galasko; Eliezer Masliah; Carl W Cotman; M Teresa Tuñón; M Cristina Caballero Martínez; David G Munoz; Steven L Carroll; Daniel Marson; Peter F Riederer; Nenad Bogdanovic; Gerard D Schellenberg; Hakon Hakonarson; John Q Trojanowski; Virginia M-Y Lee
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Nature genetics 2010;42(3):234-9.
2010: Chang-En Yu; Thomas D Bird; Lynn M Bekris; Thomas J Montine; James B Leverenz; Ellen Steinbart; Nichole M Galloway; Howard Feldman; Randall L Woltjer; Carol A Miller; Elisabeth McCarty Wood; Murray Grossman; Leo McCluskey; Christopher M Clark; Manuela Neumann; Adrian Danek; Douglas Galasko; Steven E Arnold; Alice Chen-Plotkin; Anna Karydas; Bruce L Miller; John Q Trojanowski; Virginia M-Y Lee; Gerard D Schellenberg; Vivianna M Van Deerlin
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Archives of neurology 2010;67(2):161-70.
2010: Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcátegui; Nicolas de Uzcátegui; MARY COLLINS; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; H U Møller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell 2010;140(1):74-87.
2009: Gregory T Carter; Michael D Weiss; Thomas D Bird
Myotonic disorder without myotonia?
Muscle & nerve 2009;40(6):1071-2; author reply 1072.
2009: Estela Area-Gomez; Ad J C de Groof; Istvan Boldogh; Thomas D Bird; Gary E Gibson; Carla M Koehler; W Haung Yu; karen duff; Michael P Yaffe; Liza A Pon; Eric A Schon
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
The American journal of pathology 2009;175(5):1810-6.
2009: Weiva Sieh; Yoonha Choi; Nicola H Chapman; Ulla-Katrina Craig; Ellen J Steinbart; Joseph H Rothstein; Kiyomitsu Oyanagi; Ralph M Garruto; Thomas D Bird; Douglas Galasko; Gerard D Schellenberg; Ellen M Wijsman
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.
Human molecular genetics 2009;18(19):3725-38.
2009: Anders A F Sima; Christopher R Pierson; Randall L Woltjer; Grace M Hobson; Jeffrey A Golden; William J Kupsky; Galen M Schauer; Thomas D Bird; Robert P Skoff; James Y Garbern
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
Acta neuropathologica 2009;118(4):531-9.
2009: Wendy H Raskind; Mark Matsushita; Beate Peter; Jeffrey Biberston; John Wolff; Hillary Lipe; Ruben Burbank; Thomas D Bird
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(4):570-4.
2009: Mark Hannibal; E K Ruzzo; L R Miller; B Betz; J G Buchan; D M Knutzen; K Barnett; M L Landsverk; Alexis Brice; E LeGuern; H M Bedford; B B Worrall; S Lovitt; S H Appel; E Andermann; Thomas D Bird; Phillip F Chance
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Neurology 2009;72(20):1755-9.
2009: Zoran Brkanac; David Spencer; Jay Shendure; Peggy D Robertson; Mark Matsushita; Tiffany Vu; Thomas D Bird; Maynard V Olson; Wendy H Raskind
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
American journal of human genetics 2009;84(5):692-7.
2009: Megan L Landsverk; Elizabeth K Ruzzo; Heather C Mefford; Karen Buysse; Jillian G Buchan; Evan E Eichler; Elizabeth M Petty; Esther A Peterson; Dana M Knutzen; Karen Barnett; Martin R Farlow; Judy Caress; Gareth J Parry; Dianna Quan; Kathy L Gardner; Ming Hong; Zachary Simmons; Thomas D Bird; Phillip F Chance; Mark C Hannibal
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Human molecular genetics 2009;18(7):1200-8.
2009: Kevin Duerson; Randall L Woltjer; Paramita Mookherjee; James B Leverenz; Thomas J Montine; Thomas D Bird; David V Pow; Thomas Rauen; David G Cook
Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patients.
Brain pathology (Zurich, Switzerland) 2009;19(2):267-78.
2009: Thomas D Bird
Progranulin plasma levels in the diagnosis of frontotemporal dementia.
Brain : a journal of neurology 2009;132(Pt 3):568-9.
2009: C Dirk Keene; Rubens C Chang; James B Leverenz; Oleg Kopyov; Susan Perlman; Robert Hevner; Donald E Born; Thomas D Bird; Thomas J Montine
A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions.
Acta neuropathologica 2009;117(3):329-38.
2009: Hillary Lipe; Thomas D Bird
Late onset Huntington Disease: clinical and genetic characteristics of 34 cases.
Journal of the neurological sciences 2009;276(1-2):159-62.
2009: Thomas D Bird
A new disease mimicking Refsum syndrome.
Neurology 2009;72(1):13.
2008: Michael R Cassidy; J Scott Roberts; Thomas D Bird; Ellen J Steinbart; L Adrienne Cupples; Clara A Chen; Erin Linnenbringer; Robert C Green
Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2008;4(6):406-13.
2008: Craig L Bennett; V H Lawson; K L Brickell; K Isaacs; W Seltzer; Hillary Lipe; Michael D Weiss; Gregory T Carter; K M Flanigan; Phillip F Chance; Thomas D Bird
Late-onset hereditary axonal neuropathies.
Neurology 2008;71(1):14-20.
2008: Lewis P Rowland; Thomas D Bird
Silver syndrome: The complexity of complicated hereditary spastic paraplegia.
Neurology 2008;70(21):1948-9.
2008: Vivianna M Van Deerlin; James B Leverenz; Lynn M Bekris; Thomas D Bird; Wuxing Yuan; Lauren B Elman; Dana Clay; Elisabeth McCarty Wood; Alice S Chen-Plotkin; Maria Martinez-Lage; Ellen Steinbart; Leo McCluskey; Murray Grossman; Manuela Neumann; I-Lin Wu; Wei-Shiung Yang; Robert Kalb; Douglas Galasko; Thomas J Montine; John Q Trojanowski; Virginia M-Y Lee; Gerard D Schellenberg; Chang-En Yu
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
Lancet neurology 2008;7(5):409-16.
2008: Thomas D Bird
Genetic aspects of Alzheimer disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):231-9.
2008: Thomas D Bird; Hillary P Lipe; Ellen J Steinbart
Geriatric neurogenetics: oxymoron or reality?
Archives of neurology 2008;65(4):537-9.
2008: Hans Basun; Nenad Bogdanovic; Martin Ingelsson; Ove Almkvist; Jan Näslund; Karin Axelman; Thomas D Bird; David Nochlin; Gerard D Schellenberg; Lars-Olof Wahlund; Lars Lannfelt
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease.
Archives of neurology 2008;65(4):499-505.
2008: Ignacio F Mata; Ali Samii; Seth H Schneer; John W Roberts; Alida Griffith; Berta C Leis; Gerard D Schellenberg; Ellen Sidransky; Thomas D Bird; James B Leverenz; Debby W Tsuang; Cyrus Zabetian
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
Archives of neurology 2008;65(3):379-82.
2008: Suman Jayadev; Ellen J Steinbart; Yueh-Yun Chi; Walter A Kukull; Gerard D Schellenberg; Thomas D Bird
Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease.
Archives of neurology 2008;65(3):373-8.
2008: Carolyn M Hutter; Ali Samii; Stewart A Factor; John G Nutt; Donald S Higgins; Thomas D Bird; Alida Griffith; John W Roberts; Berta C Leis; Jennifer S Montimurro; Denise M Kay; Karen L Edwards; Haydeh Payami; Cyrus Zabetian
Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2008;15(2):134-9.
2007: Rosa Rademakers; Matt Baker; Jennifer Gass; Jennifer Adamson; Edward D Huey; Parastoo Momeni; Salvatore Spina; Giovanni Coppola; Anna M Karydas; Heather Stewart; Nancy Johnson; Ging-Yuek Hsiung; Brendan Kelley; Karen Kuntz; Ellen Steinbart; Elisabeth McCarty Wood; Chang-En Yu; Keith A Josephs; Eric Sorenson; Kyle B Womack; Sandra Weintraub; Stuart M Pickering-Brown; Peter R Schofield; William S Brooks; Vivianna M Van Deerlin; Julie Snowden; Christopher M Clark; Andrew Kertesz; Kevin Boylan; Bernardino Ghetti; David Neary; Gerard D Schellenberg; Thomas Beach; Marek-Marsel Mesulam; D M A Mann; Jordan Grafman; Ian R Mackenzie; Howard Feldman; Thomas D Bird; Ronald C. Petersen; David S. Knopman; Bradley Boeve; Daniel Geschwind; Bruce L Miller; Zbigniew K Wszolek; Carol F Lippa; Eileen H Bigio; dennis dickson; Neill Graff-Radford; Michael Hutton
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Lancet neurology 2007;6(10):857-68.
2007: Kiri L Brickell; James B Leverenz; Ellen J Steinbart; Malia Rumbaugh; Gerard D Schellenberg; David Nochlin; Thomas H Lampe; Ida E Holm; Vivianna M Van Deerlin; Wuxing Yuan; Thomas D Bird
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease.
Journal of neurology, neurosurgery, and psychiatry 2007;78(10):1050-5.
2007: C Dirk Keene; Joshua A Sonnen; Phillip D Swanson; O Kopyov; James B Leverenz; Thomas D Bird; Thomas J Montine
Neural transplantation in Huntington disease: long-term grafts in two patients.
Neurology 2007;68(24):2093-8.
2007: James B Leverenz; Chang-En Yu; Thomas J Montine; Ellen J Steinbart; L M Bekris; Cyrus Zabetian; L K Kwong; Virginia M-Y Lee; Gerard D Schellenberg; Thomas D Bird
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.
Brain : a journal of neurology 2007;130(Pt 5):1360-74.
2007: Purnima Desai Sundar; Chang-En Yu; Weiva Sieh; Ellen J Steinbart; Ralph M Garruto; Kiyomitsu Oyanagi; Ulla-Katrina Craig; Thomas D Bird; Ellen M Wijsman; Douglas Galasko; Gerard D Schellenberg
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
Human molecular genetics 2007;16(3):295-306.
2007: Weiva Sieh; Chang-En Yu; Thomas D Bird; Gerard D Schellenberg; Ellen M Wijsman
Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease.
Human heredity 2007;63(1):26-34.
2006: Suman Jayadev; Sara Michelson; Hillary Lipe; Thomas D Bird
Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).
Journal of the neurological sciences 2006;250(1-2):110-3.
2006: Thomas D Bird
Invited comments on the Shostak and Ottman review.
Epilepsia 2006;47(10):1748-9; author reply 1755-6.
2006: Cyrus Zabetian; Carolyn M Hutter; Dora Yearout; Alexis N Lopez; Stewart A Factor; Alida Griffith; Berta C Leis; Thomas D Bird; John G Nutt; Donald S Higgins; John W Roberts; Denise M Kay; Karen L Edwards; Ali Samii; Haydeh Payami
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
American journal of human genetics 2006;79(4):752-8.
2006: Kiri L Brickell; Ellen J Steinbart; Malia Rumbaugh; Haydeh Payami; Gerard D Schellenberg; Vivianna M Van Deerlin; Wuxing Yuan; Thomas D Bird
Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease.
Archives of neurology 2006;63(9):1307-11.
2006: Debby W Tsuang; Robert G Riekse; Kristina M Purganan; Andrew C David; Thomas J Montine; Gerard D Schellenberg; Ellen J Steinbart; Eric C Petrie; Thomas D Bird; James B Leverenz
Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series.
Journal of Alzheimer's disease : JAD 2006;9(3):235-42.
2006: Yasuhiko Baba; Bernardino Ghetti; Matthew C Baker; Ryan Uitti; Michael Hutton; Keiji Yamaguchi; Thomas D Bird; Wenlang Lin; Michael W DeLucia; dennis dickson; Zbigniew K Wszolek
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred.
Acta neuropathologica 2006;111(4):300-11.
2006: Denise M Kay; Cyrus Zabetian; Stewart A Factor; John G Nutt; Ali Samii; Alida Griffith; Thomas D Bird; Patricia L Kramer; Donald S Higgins; Haydeh Payami
Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.
Movement disorders : official journal of the Movement Disorder Society 2006;21(4):519-23.
2006: James B Leverenz; Mark A Fishel; Elaine Peskind; Thomas J Montine; David Nochlin; Ellen J Steinbart; Murray A Raskind; Gerard D Schellenberg; Thomas D Bird; Debby W Tsuang
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.
Archives of neurology 2006;63(3):370-6.
2006: Stephan Zuchner; Peter De Jonghe; Albena Jordanova; Kristl G Claeys; Velina Guergueltcheva; Sylvia Cherninkova; Steven R Hamilton; Gregory P Van Stavern; Karen M Krajewski; Jason E Stajich; Ivailo Tournev; Kristien Verhoeven; Christine T Langerhorst; Marianne De Visser; Frank Baas; Thomas D Bird; Vincent Timmerman; chris hall; Jeffery Vance
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology 2006;59(2):276-81.
2006: Denise M Kay; Thomas D Bird; Cyrus Zabetian; Stewart A Factor; Ali Samii; Donald S Higgins; John G Nutt; John W Roberts; Alida Griffith; Berta C Leis; Jennifer S Montimurro; Sean Philpott; Haydeh Payami
Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease.
Genetic testing 2006;10(3):221-7.
2006: Julie A Hodapp; Gregory T Carter; Hillary Lipe; Sara J Michelson; George H Kraft; Thomas D Bird
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
Archives of neurology 2006;63(1):112-7.
2005: Xiaohong Li; Lewis P Rowland; Hiroshi Mitsumoto; Serge Przedborski; Thomas D Bird; Gerard D Schellenberg; Elaine Peskind; Nancy Johnson; Teepu Siddique; Marek-Marsel Mesulam; Sandra Weintraub; James A Mastrianni
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia.
Annals of neurology 2005;58(6):858-64.
2005: Randall L Woltjer; Patrick J Cimino; Angela M Boutté; Aimee M Schantz; Kathleen S Montine; Eric B Larson; Thomas D Bird; Joseph F Quinn; Jing Zhang; Thomas J Montine
Proteomic determination of widespread detergent-insolubility including Abeta but not tau early in the pathogenesis of Alzheimer's disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(13):1923-5.
2005: Gregor Kuhlenbäumer; Mark C Hannibal; Eva Nelis; Anja Schirmacher; Nathalie Verpoorten; Jan Meuleman; Giles D J Watts; Els De Vriendt; Peter Young; Florian Stögbauer; Hartmut Halfter; Joy Irobi; Dirk Goossens; Jurgen Del-Favero; Benjamin G Betz; Hyun Hor; Gerhard Kurlemann; Thomas D Bird; Eila Airaksinen; Tarja Mononen; Adolfo Pou Serradell; José M Prats; Christine Van Broeckhoven; Peter De Jonghe; Vincent Timmerman; E Bernd Ringelstein; Phillip F Chance
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nature genetics 2005;37(10):1044-6.
2005: Angela M Boutté; M Diana Neely; Thomas D Bird; Kathleen S Montine; Thomas J Montine
Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment.
Journal of Alzheimer's disease : JAD 2005;8(1):1-6.
2005: Andrew D Strand; Aaron Aragaki; Dennis Shaw; Thomas D Bird; Janice Holton; Christopher Turner; Stephen J Tapscott; Sarah J Tabrizi; Anthony H V Schapira; Charles Kooperberg; James M Olson
Gene expression in Huntington's disease skeletal muscle: a potential biomarker.
Human molecular genetics 2005;14(13):1863-76.
2005: Deborah A Hall; Maureen A Leehey; Christopher M Filley; E Steinbart; Thomas J Montine; Gerard D Schellenberg; Patrick Bosque; R Nixon; Thomas D Bird
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.
Neurology 2005;64(7):1304-6.
2005: Dong-Hui Chen; Patrick J Cimino; Laura P W Ranum; Huda Y Zoghbi; Ichiro Yabe; Lawrence J Schut; Russell L Margolis; Hillary Lipe; A Feleke; Mark Matsushita; John Wolff; C Morgan; D Lau; Magali Fernandez; Hidenao Sasaki; Wendy H Raskind; Thomas D Bird
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Neurology 2005;64(7):1258-60.
2005: Dong-Hui Chen; Mark Matsushita; Shirley Rainier; Brandon Meaney; Lisa Tisch; Abreham Feleke; John Wolff; Hillary Lipe; John K Fink; Thomas D Bird; Wendy H Raskind
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
Archives of neurology 2005;62(4):597-600.
2005: Thomas D Bird
Genetic factors in Alzheimer's disease.
The New England journal of medicine 2005;352(9):862-4.
2005: Dilantha B Ellegala; Stephen J Monteith; David R Haynor; Thomas D Bird; Robert Goodkin; Michel Kliot
Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography.
Journal of neurosurgery 2005;102(2):242-5.
2005: Sian D Spacey; Luke A Materek; Blazej I Szczygielski; Thomas D Bird
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Archives of neurology 2005;62(2):314-6.
2005: Gregory T Carter; Thomas D Bird
Ventilatory support in facioscapulohumeral muscular dystrophy.
Neurology 2005;64(2):401; author reply 401.
2005: Ellen M Wijsman; E Warwick Daw; Xuesong Yu; Ellen J Steinbart; David Nochlin; Thomas D Bird; Gerard D Schellenberg
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;132B(1):14-20.
2004: Russell L Margolis; Susan E Holmes; Adam Rosenblatt; Lisa M Gourley; Elizabeth O'Hearn; Christopher A Ross; William K Seltzer; Ruth H Walker; Tetsuo Ashizawa; Astrid Rasmussen; Michael R Hayden; Elisabeth W Almqvist; Juliette Harris; Stanley Fahn; Marcy E MacDonald; Jayalakshmi Mysore; Takayoshi Shimohata; Shoji Tsuji; Nicholas T Potter; Kazuhiro Nakaso; Yoshiki Adachi; Kenji Nakashima; Thomas D Bird; Amanda Krause; Penny Greenstein
Huntington's Disease-like 2 (HDL2) in North America and Japan.
Annals of neurology 2004;56(5):670-4.
2004: H Ohtake; Pornprot Limprasert; Y Fan; Osamu Onodera; Akiyoshi Kakita; Hidenobu Takahashi; Lauren T Bonner; Debby W Tsuang; Ian V J Murray; Virginia M-Y Lee; John Q Trojanowski; A Ishikawa; J Idezuka; M Murata; T Toda; Thomas D Bird; James B Leverenz; Shoji Tsuji; Albert R La Spada
Beta-synuclein gene alterations in dementia with Lewy bodies.
Neurology 2004;63(5):805-11.
2004: Ellen M Wijsman; E Warwick Daw; Chang-En Yu; Haydeh Payami; Ellen J Steinbart; David Nochlin; Erin M Conlon; Thomas D Bird; Gerard D Schellenberg
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2.
American journal of human genetics 2004;75(3):398-409.
2004: Parvoneh Poorkaj-Navas; John G Nutt; D James; Steven Gancher; Thomas D Bird; Ellen J Steinbart; Gerard D Schellenberg; Haydeh Payami
parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.
American journal of medical genetics. Part A 2004;129A(1):44-50.
2004: Sian D Spacey; Michael E Hildebrand; Luke A Materek; Thomas D Bird; Terrance P Snutch
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Annals of neurology 2004;56(2):213-20.
2004: Yoshio Ikeda; Joline C Dalton; Melinda L Moseley; Kathy L Gardner; Thomas D Bird; Tetsuo Ashizawa; William K Seltzer; Massimo Pandolfo; Aubrey Milunsky; Nicholas T Potter; Mikio Shoji; John B Vincent; John W Day; Laura P W Ranum
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
American journal of human genetics 2004;75(1):3-16.
2004: Melanie Walker; Ali Samii; Thomas D Bird
Coexistence of tuberous sclerosis and Friedreich ataxia.
Journal of the neurological sciences 2004;221(1-2):91-3.
2004: Corrine O Smith; Hillary Lipe; Thomas D Bird
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.
Archives of neurology 2004;61(6):875-80.
2004: Sarah Furtado; Haydeh Payami; Paul J Lockhart; Melissa Hanson; John G Nutt; Amanda Adam Singleton; Amanda Singleton; Jamel Bower; Ryan J Utti; Thomas D Bird; Raul de la Fuente-Fernandez; Yoshio Tsuboi; Mary L Klimek; Oksana Suchowersky; John Hardy; Donald B Calne; Zbigniew K Wszolek; Matthew J Farrer; Katrina Gwinn-Hardy; A Jon Stoessl
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
Movement disorders : official journal of the Movement Disorder Society 2004;19(6):622-9.
2004: Craig L Bennett; Andrew J Shirk; Huy M Huynh; Valerie A Street; Eva Nelis; Lionel Van Maldergem; Peter De Jonghe; Albena Jordanova; Velina Guergueltcheva; Ivailo Tournev; P Y K Van Den Bergh; Pavel Seeman; Radim Mazanec; Tomas Prochazka; Ivo Kremensky; Jana Haberlova; Michael D Weiss; Vincent Timmerman; Thomas D Bird; Phillip F Chance
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Annals of neurology 2004;55(5):713-20.
2004: Debby W Tsuang; Lillian DiGiacomo; Thomas D Bird
Familial occurrence of dementia with Lewy bodies.
The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2004;12(2):179-88.
2004: Lee-Way Jin; Feng-Shiun Shie; Izumi Maezawa; Inez Vincent; Thomas D Bird
Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities.
The American journal of pathology 2004;164(3):975-85.
2004: Stuart Pickering-Brown; Matt Baker; Thomas D Bird; John Q Trojanowski; Virginia M-Y Lee; Huw Morris; Martin N Rossor; John C Janssen; David Neary; David Craufurd; Anna Richardson; Julie Snowden; John Hardy; D M A Mann; Michael Hutton
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):79-82.
2004: M J Doherty; Thomas D Bird; James B Leverenz
Alpha-synuclein in motor neuron disease: an immunohistologic study.
Acta neuropathologica 2004;107(2):169-75.
2003: Ichiro Yabe; Hidenao Sasaki; Dong-Hui Chen; Wendy H Raskind; Thomas D Bird; Isao Yamashita; Shoji Tsuji; Seiji Kikuchi; Kunio Tashiro
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
Archives of neurology 2003;60(12):1749-51.
2003: Valerie A Street; Craig L Bennett; Thomas D Bird; Phillip F Chance
New gene for CMT.
Journal of the peripheral nervous system : JPNS 2003;8(4):206.
2003: Katsutoshi Furukawa; Yue Wang; Pamela J Yao; Weiming Fu; Mark P Mattson; Yasuto Itoyama; Hiroshi Onodera; Ian D'Souza; Parvoneh Poorkaj-Navas; Thomas D Bird; Gerard D Schellenberg
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation.
Journal of neurochemistry 2003;87(2):427-36.
2003: Haydeh Payami; John G Nutt; Steven Gancher; Thomas D Bird; Melissa Gonzales McNeal; William K Seltzer; Jennifer Hussey; Paul Lockhart; Katrina Gwinn-Hardy; Amanda Adam Singleton; Andrew Singleton; John Hardy; Matthew J Farrer
SCA2 may present as levodopa-responsive parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2003;18(4):425-9.
2003: Dong-Hui Chen; Zoran Brkanac; Christophe Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; Patrick J Cimino; Thomas D Bird; Wendy H Raskind
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
American journal of human genetics 2003;72(4):839-49.
2003: Lauren T Bonner; Debby W Tsuang; Monique M Cherrier; Charisma J Eugenio; Q Du Jennifer; Ellen J Steinbart; Pornprot Limprasert; Albert R La Spada; Benjamin Seltzer; Thomas D Bird; James B Leverenz
Familial dementia with Lewy bodies with an atypical clinical presentation.
Journal of geriatric psychiatry and neurology 2003;16(1):59-64.
2003: Valerie A Street; Craig L Bennett; J D Goldy; Andrew J Shirk; Kleopas A Kleopa; Bruce Tempel; Hillary Lipe; Steven S Scherer; Thomas D Bird; Phillip F Chance
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Neurology 2003;60(1):22-6.
2003: Thomas D Bird; David S. Knopman; John VanSwieten; Sonia Rosso; Howard Feldman; Hirotaka Tanabe; Neil Graff-Raford; Daniel Geschwind; Patrice Verpillat; Michael Hutton
Epidemiology and genetics of frontotemporal dementia/Pick's disease.
Annals of neurology 2003;54 Suppl 5():S29-31.
2002: Bitao Bu; Hans Klunemann; Kinuko Suzuki; Jin Li; Thomas D Bird; Lee-Way Jin; Inez Vincent
Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles.
Neurobiology of disease 2002;11(2):285-97.
2002: Debby W Tsuang; Aaron M Dalan; Charisma J Eugenio; Parvoneh Poorkaj-Navas; Pornprot Limprasert; Albert R La Spada; Ellen J Steinbart; Thomas D Bird; James B Leverenz
Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families.
Archives of neurology 2002;59(10):1622-30.
2002: Parvoneh Poorkaj-Navas; Nancy A Muma; Victoria Zhukareva; Elizabeth J Cochran; Kathleen M Shannon; Howard I Hurtig; William Koller; Thomas D Bird; John Q Trojanowski; Virginia M-Y Lee; Gerard D Schellenberg
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.
Annals of neurology 2002;52(4):511-6.
2002: Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; ME Hodes; Lisa Shaffer; James R Lupski
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
American journal of human genetics 2002;71(4):838-53.
2002: Valerie A Street; Gregg D Meekins; Hillary Lipe; W K Seltzer; Gregory T Carter; George H Kraft; Thomas D Bird
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Neuromuscular disorders : NMD 2002;12(7-8):643-50.
2002: Juha Paloneva; Tuula Manninen; Grant Christman; Karine Hovanes; Jami Mandelin; Rolf Adolfsson; Marino Bianchin; Thomas D Bird; Roxana Miranda; Andrea Salmaggi; Lisbeth Tranebjaerg; Yrjö T Konttinen; Leena Peltonen
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
American journal of human genetics 2002;71(3):656-62.
2002: Thomas D Bird
Approaches to the patient with neurogenetic disease.
Neurologic clinics 2002;20(3):619-26, v.
2002: Zoran Brkanac; Laura Bylenok; Magali Fernandez; Mark Matsushita; Hillary Lipe; John Wolff; David Nochlin; Wendy H Raskind; Thomas D Bird
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
Archives of neurology 2002;59(8):1291-5.
2002: Zoran Brkanac; Magali Fernandez; Mark Matsushita; Hillary Lipe; John Wolff; Thomas D Bird; Wendy H Raskind
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
American journal of medical genetics 2002;114(4):450-7.
2002: Debby W Tsuang; Thomas D Bird
Genetics of dementia.
The Medical clinics of North America 2002;86(3):591-614.
2002: Roberta A Pagon; Peter Tarczy-Hornoch; Patricia K Baskin; Joseph E Edwards; Maxine L Covington; Miriam Espeseth; Christine Beahler; Thomas D Bird; Bradley Popovich; Charli Nesbitt; Cynthia Dolan; Kathi Marymee; Nancy B Hanson; Whitney Neufeld-Kaiser; Gina McCullough Grohs; Tracy Kicklighter; Cynthia Abair; Audin Malmin; Matthew Barclay; Rajasri Dharani Palepu
GeneTests-GeneClinics: genetic testing information for a growing audience.
Human mutation 2002;19(5):501-9.
2002: Dong-Hui Chen; Hillary Lipe; Zhen Qin; Thomas D Bird
Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.
Journal of the neurological sciences 2002;196(1-2):91-6.
2002: Sepideh Zareparsi; D M James; Jeffrey A Kaye; Thomas D Bird; Gerard D Schellenberg; Haydeh Payami
HLA-A2 homozygosity but not heterozygosity is associated with Alzheimer disease.
Neurology 2002;58(6):973-5.
2002: James Y Garbern; Donald A Yool; Gregory Moore; Ian B Wilds; Michael W Faulk; Matthias Klugmann; Klaus-Armin Nave; Erik A Sistermans; Marjo S van der Knaap; Thomas D Bird; chris hall; John Kamholz; Ian R Griffiths
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
Brain : a journal of neurology 2002;125(Pt 3):551-61.
2002: Sepideh Zareparsi; Richard Camicioli; Gary Sexton; Thomas D Bird; Phillip Swanson; Jeffrey A Kaye; John G Nutt; Haydeh Payami
Age at onset of Parkinson disease and apolipoprotein E genotypes.
American journal of medical genetics 2002;107(2):156-61.
2002: Valerie A Street; Jeff D Goldy; Alana S Golden; Bruce Tempel; Thomas D Bird; Phillip F Chance
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
American journal of human genetics 2002;70(1):244-50.
2001: P Y Jeannet; Giles D J Watts; Thomas D Bird; Phillip F Chance
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy.
Neurology 2001;57(11):1963-8.
2001: Linda E Pinsky; Wylie Burke; Thomas D Bird
Why should primary care physicians know about the genetics of dementia?
The Western journal of medicine 2001;175(6):412-6.
2001: Parvoneh Poorkaj-Navas; Debby W Tsuang; Ellen M Wijsman; Ellen J Steinbart; Ralph M Garruto; Ulla-Katrina Craig; N H Chapman; L Anderson; Thomas D Bird; Chris C Plato; Daniel P Perl; W Weiderholt; Douglas Galasko; Gerard D Schellenberg
TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam.
Archives of neurology 2001;58(11):1871-8.
2001: Ellen J Steinbart; Corrine O Smith; Parvoneh Poorkaj-Navas; Thomas D Bird
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia.
Archives of neurology 2001;58(11):1828-31.
2001: Thomas D Bird
Thoughts on the relationship of the human genome project to neurology.
Archives of neurology 2001;58(11):1764-5.
2001: Anne M Cataldo; G. William Rebeck; B Ghetri; Christine M Hulette; Carol F Lippa; Christine Van Broeckhoven; C.M. Duijn; Patrick cras; Nenad Bogdanovic; Thomas D Bird; Corrinne M Peterhoff; Ralph A. Nixon
Endocytic disturbances distinguish among subtypes of Alzheimer's disease and related disorders.
Annals of neurology 2001;50(5):661-5.
2001: Thomas D Bird; Gail P Jarvik; Nicholas W Wood
Genetic association studies: genes in search of diseases.
Neurology 2001;57(7):1153-4.
2001: Magali Fernandez; Wendy H Raskind; Mark Matsushita; John Wolff; Hillary Lipe; Thomas D Bird
Hereditary benign chorea: clinical and genetic features of a distinct disease.
Neurology 2001;57(1):106-10.
2001: Pedro Piccardo; Juris J Liepnieks; A William; Stephen R Dlouhy; Martin R Farlow; K Young; David Nochlin; Thomas D Bird; R R Nixon; Melvyn Ball; Charles DeCarli; Orso Bugiani; Fabrizio Tagliavini; M D Benson; Bernardino Ghetti
Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations.
The American journal of pathology 2001;158(6):2201-7.
2001: Haydeh Payami; N Lee; Sepideh Zareparsi; M Gonzales McNeal; Richard Camicioli; Thomas D Bird; Gary Sexton; Steven Gancher; Jeffrey A Kaye; D Calhoun; P D Swanson; John G Nutt
Parkinson's disease, CYP2D6 polymorphism, and age.
Neurology 2001;56(10):1363-70.
2001: Magali Fernandez; Wendy H Raskind; John Wolff; Mark Matsushita; E Yuen; WD Graf; Hillary Lipe; Thomas D Bird
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
Annals of neurology 2001;49(4):486-92.
2001: Parvoneh Poorkaj-Navas; Murray Grossman; Ellen J Steinbart; Haydeh Payami; A Sadovnick; David Nochlin; Takeshi Tabira; John Q Trojanowski; Soo Borson; Douglas Galasko; Stephen G Reich; B Quinn; Gerard D Schellenberg; Thomas D Bird
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia.
Archives of neurology 2001;58(3):383-7.
2001: Thomas D Bird; Gerard D Schellenberg
The case of the missing tau, or, why didn't the mRNA bark?
Annals of neurology 2001;49(2):144-5.
2001: Thomas D Bird
Frontotemporal dementia: genotypes, phenotypes and more problems to be solved.
Neurobiology of aging 2001;22(1):113-4.
2000: Debby W Tsuang; E W Almqvist; H Lipe; F Strgar; Lillian DiGiacomo; D Hoff; Charisma J Eugenio; Michael R Hayden; Thomas D Bird
Familial aggregation of psychotic symptoms in Huntington's disease.
The American journal of psychiatry 2000;157(12):1955-9.
2000: Paul Mathews; Anne M Cataldo; B H Kao; A G Rudnicki; X Qin; J L Yang; Ying Jiang; M Picciano; Christine M Hulette; Carol F Lippa; Thomas D Bird; David Nochlin; J Walter; Christian Haass; L Lévesque; Paul E Fraser; Athena Andreadis; Ralph A. Nixon
Brain expression of presenilins in sporadic and early-onset, familial Alzheimer's disease.
Molecular medicine (Cambridge, Mass.) 2000;6(10):878-91.
2000: Carol F Lippa; Joan M Swearer; Kevin J Kane; David Nochlin; Thomas D Bird; Bernardino Ghetti; Linda E Nee; Peter St George-Hyslop; Daniel A Pollen; David Drachman
Familial Alzheimer's disease: site of mutation influences clinical phenotype.
Annals of neurology 2000;48(3):376-9.
2000: Melinda L Moseley; Lawrence J Schut; Thomas D Bird; Michael D Koob; John W Day; Laura P W Ranum
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.
Human molecular genetics 2000;9(14):2125-30.
2000: Magali Fernandez; M E McClain; Refugio A Martinez; K Snow; Hillary Lipe; J Ravits; Thomas D Bird; Albert R La Spada
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
Neurology 2000;55(4):569-72.
2000: Karen J Woodward; K Kirtland; Stephen R Dlouhy; Wendy H Raskind; Thomas D Bird; Sue Malcolm; D Abeliovich
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
European journal of human genetics : EJHG 2000;8(6):449-54.
2000: Richard A Armstrong; David Nochlin; Thomas D Bird
Neuropathological heterogeneity in Alzheimer's disease: a study of 80 cases using principal components analysis.
Neuropathology : official journal of the Japanese Society of Neuropathology 2000;20(1):31-7.
2000: Thomas D Bird
Sporadic cases of possible genetic diseases: to test or not to test?
Archives of neurology 2000;57(3):309-10.
2000: Andrew Kertesz; T Kawarai; E Rogaeva; Peter St George-Hyslop; Parvoneh Poorkaj-Navas; Thomas D Bird; David G Munoz
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.
Neurology 2000;54(4):818-27.
2000: K Furukawa; Ian D'Souza; C H Crudder; H Onodera; Y Itoyama; Parvoneh Poorkaj-Navas; Thomas D Bird; Gerard D Schellenberg
Pro-apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism.
Neuroreport 2000;11(1):57-60.
2000: Carol F Lippa; ML Schmidt; Linda E Nee; Thomas D Bird; David Nochlin; Christine M Hulette; Hiroshi Mori; Virginia M-Y Lee; John Q Trojanowski
AMY plaques in familial AD: comparison with sporadic Alzheimer's disease.
Neurology 2000;54(1):100-4.
2000: E Warwick Daw; Haydeh Payami; EJ Nemens; David Nochlin; Thomas D Bird; Gerard D Schellenberg; Ellen M Wijsman
The number of trait loci in late-onset Alzheimer disease.
American journal of human genetics 2000;66(1):196-204.
1999: James Y Garbern; Franca Cambi; Richard Alan Lewis; chris hall; Anders A F Sima; G Kraft; Jean-Michel Vallat; E P Bosch; ME Hodes; Stephen R Dlouhy; Wendy H Raskind; Thomas D Bird; Wendy B Macklin; John Kamholz
Peripheral neuropathy caused by proteolipid protein gene mutations.
Annals of the New York Academy of Sciences 1999;883():351-65.
1999: Thomas D Bird
Historical perspective of defining Charcot-Marie-Tooth type 1B.
Annals of the New York Academy of Sciences 1999;883():6-13.
1999: T Gómez-Isla; Whitfield B Growdon; MJ McNamara; David Nochlin; Thomas D Bird; JC Arango; Francisco Lopera; Kenneth S Kosik; P L Lantos; Nigel J Cairns; Bradley T Hyman
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Brain : a journal of neurology 1999;122 ( Pt 9)():1709-19.
1999: Andrew P Lieberman; John Q Trojanowski; Debra G B Leonard; KL Chen; J L Barnett; James B Leverenz; Thomas D Bird; Y Robitaille; A Malandrini; Kenneth H Fischbeck
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.
Annals of neurology 1999;46(2):271-3.
1999: D A Figlewicz; Thomas D Bird
"Pure" hereditary spastic paraplegias: the story becomes complicated.
Neurology 1999;53(1):5-7.
1999: Ian D'Souza; Parvoneh Poorkaj-Navas; M Hong; David Nochlin; Virginia M-Y Lee; Thomas D Bird; Gerard D Schellenberg
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(10):5598-603.
1999: Thomas D Bird
Outrageous fortune: the risk of suicide in genetic testing for Huntington disease.
American journal of human genetics 1999;64(5):1289-92.
1999: Thomas D Bird; David Nochlin; Parvoneh Poorkaj-Navas; Monique M Cherrier; Jeffrey A Kaye; Haydeh Payami; Elaine Peskind; T H Lampe; EJ Nemens; P J Boyer; Gerard D Schellenberg
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
Brain : a journal of neurology 1999;122 ( Pt 4)():741-56.
1999: Michael D Koob; Melinda L Moseley; Lawrence J Schut; Kellie A Benzow; Thomas D Bird; John W Day; Laura P W Ranum
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Nature genetics 1999;21(4):379-84.
1999: Thomas D Bird
Risks and benefits of DNA testing for neurogenetic disorders.
Seminars in neurology 1999;19(3):253-9.
1999: Minoru Yasuda; K Maeda; M Hashimoto; H Yamashita; Yoshitaka Ikejiri; Thomas D Bird; Chikako Tanaka; Gerard D Schellenberg
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
Archives of neurology 1999;56(1):65-9.
1998: M Hong; Victoria Zhukareva; Vanessa Vogelsberg-Ragaglia; Zbigniew K Wszolek; L Reed; Bruce L Miller; Daniel Geschwind; Thomas D Bird; Daniel W McKeel; Alison Goate; John C Morris; Kirk Wilhelmsen; Gerard D Schellenberg; John Q Trojanowski; Virginia M-Y Lee
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
Science (New York, N.Y.) 1998;282(5395):1914-7.
1998: Gregory T Carter; Mark P Jensen; Bradley S Galer; George H Kraft; L D Crabtree; R M Beardsley; R Ted Abresch; Thomas D Bird
Neuropathic pain in Charcot-Marie-Tooth disease.
Archives of physical medicine and rehabilitation 1998;79(12):1560-4.
1998: Melinda L Moseley; Kellie A Benzow; Lawrence J Schut; Thomas D Bird; Christopher M Gomez; P E Barkhaus; K A Blindauer; M Labuda; Massimo Pandolfo; Michael D Koob; Laura P W Ranum
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.
Neurology 1998;51(6):1666-71.
1998: Carol F Lippa; H Fujiwara; D M A Mann; Benoit I Giasson; M Baba; ML Schmidt; Linda E Nee; B O'Connell; Daniel A Pollen; Peter St George-Hyslop; Bernardino Ghetti; David Nochlin; Thomas D Bird; Nigel J Cairns; Virginia M-Y Lee; Takeshi Iwatsubo; John Q Trojanowski
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes.
The American journal of pathology 1998;153(5):1365-70.
1998: LN Clark; Parvoneh Poorkaj-Navas; Zbigniew K Wszolek; Daniel Geschwind; Ziad S Nasreddine; Bruce L Miller; D Li; Haydeh Payami; F Awert; Katerina Markopoulou; A Andreadis; Ian D'Souza; Virginia M-Y Lee; L Reed; John Q Trojanowski; Victoria Zhukareva; Thomas D Bird; Gerard D Schellenberg; Kirk Wilhelmsen
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(22):13103-7.
1998: Pedro Piccardo; Stephen R Dlouhy; PM Lievens; K Young; Thomas D Bird; David Nochlin; dennis dickson; Harry V Vinters; T R Zimmerman; I R Mackenzie; Stephen J Kish; Lee Cyn Ang; Charles DeCarli; Maurizio Pocchiari; Paul Brown; CJ Gibbs; D Carleton Gajdusek; Orso Bugiani; James Ironside; Fabrizio Tagliavini; Bernardino Ghetti
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
Journal of neuropathology and experimental neurology 1998;57(10):979-88.
1998: Kathleen F Benson; Marshall Horwitz; John Wolff; Kathryn Friend; E Thompson; S White; Robert I Richards; Wendy H Raskind; Thomas D Bird
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.
Human molecular genetics 1998;7(11):1779-86.
1998: Thomas D Bird
Penetrating observations of dystonia.
Annals of neurology 1998;44(3):299-300.
1998: Debby W Tsuang; Lillian DiGiacomo; H Lipe; Thomas D Bird
Familial aggregation of schizophrenia-like symptoms in Huntington's disease.
American journal of medical genetics 1998;81(4):323-7.
1998: Thomas D Bird
Genotypes, phenotypes, and frontotemporal dementia: take your pick.
Neurology 1998;50(6):1526-7.
1998: Parvoneh Poorkaj-Navas; Thomas D Bird; Ellen M Wijsman; EJ Nemens; Ralph M Garruto; L Anderson; A Andreadis; Wigbert Wiederholt; Murray A Raskind; Gerard D Schellenberg
Tau is a candidate gene for chromosome 17 frontotemporal dementia.
Annals of neurology 1998;43(6):815-25.
1998: Takeshi Ikeuchi; K Sanpei; H Takano; H Sasaki; K Tashiro; G Cancel; Alexis Brice; Thomas D Bird; Gerard D Schellenberg; Margaret Pericak-Vance; K A Welsh-Bohmer; L N Clark; Kirk Wilhelmsen; Shoji Tsuji
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
Genomics 1998;49(2):321-6.
1998: Thomas D Bird
Genetic testing.
The Western journal of medicine 1998;168(4):265-6.
1998: Yoshiaki Furukawa; Anthony E Lang; JM Trugman; Thomas D Bird; A Hunter; M Sadeh; T Tagawa; Peter St George-Hyslop; Mark Guttman; L W Morris; Oleh Hornykiewicz; M Shimadzu; Stephen J Kish
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
Neurology 1998;50(4):1015-20.
1998: Maria Grazia Spillantini; Thomas D Bird; Bernardino Ghetti
Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies.
Brain pathology (Zurich, Switzerland) 1998;8(2):387-402.
1998: L G Gouw; M A Castañeda; C K McKenna; Kathleen B Digre; Stef pulst; S Perlman; M S Lee; C Gomez; Kenneth H Fischbeck; D Gagnon; E Storey; Thomas D Bird; F R Jeri; Louis J Ptácek
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
Human molecular genetics 1998;7(3):525-32.
1998: Sepideh Zareparsi; Jeffrey A Kaye; R Camicioli; Patricia L Kramer; John G Nutt; Thomas D Bird; M Litt; Haydeh Payami; J Kay
Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease.
Lancet 1998;351(9095):37-8.
1998: Ephrat Levy-Lahad; D Tsuang; Thomas D Bird
Recent advances in the genetics of Alzheimer's disease.
Journal of geriatric psychiatry and neurology 1998;11(2):42-54.
1998: Parvoneh Poorkaj-Navas; V Sharma; L Anderson; EJ Nemens; M E Alonso; H Orr; J White; L Heston; Thomas D Bird; Gerard D Schellenberg
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
Human mutation 1998;11(3):216-21.
1998: Wendy H Raskind; T Bolin; John Wolff; John K Fink; Mark Matsushita; M Litt; Hillary Lipe; Thomas D Bird
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.
Human genetics 1998;102(1):93-7.
1998: David Nochlin; Thomas D Bird; EJ Nemens; Melvyn Ball; Shuzo M Sumi
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
Annals of neurology 1998;43(1):131-5.
1998: Michael D Koob; Kellie A Benzow; Thomas D Bird; John W Day; Melinda L Moseley; Laura P W Ranum
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.
Nature genetics 1998;18(1):72-5.
1997: JE Pellegrino; R A George; Jaclyn A Biegel; Martin R Farlow; K Gardner; J Caress; M J Brown; T R Rebbeck; Thomas D Bird; Phillip F Chance
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.
Human genetics 1997;101(3):277-83.
1997: Marcella Pascualy; Debby W Tsuang; Molly M Shores; C Agustin; E Krause; W Spain; Thomas D Bird; Elaine Peskind
Frontal-complex partial status epilepticus misdiagnosed as bipolar affective disorder in a 75-year-old man.
Journal of geriatric psychiatry and neurology 1997;10(4):158-60.
1997: Sepideh Zareparsi; Jeffrey A Kaye; Richard Camicioli; H Grimslid; Barry S Oken; M Litt; John G Nutt; Thomas D Bird; Gerard D Schellenberg; Haydeh Payami
Modulation of the age at onset of Parkinson's disease by apolipoprotein E genotypes.
Annals of neurology 1997;42(4):655-8.
1997: William M Coplin; D K Kim; M Kliot; Thomas D Bird
Mutism in an adult following hypertensive cerebellar hemorrhage: nosological discussion and illustrative case.
Brain and language 1997;59(3):473-93.
1997: Haydeh Payami; Gerard D Schellenberg; Sepideh Zareparsi; Jeffrey A Kaye; Gary Sexton; M A Head; S S Matsuyama; Lissy Jarvik; Bruce L Miller; D Q McManus; Thomas D Bird; Robert Katzman; L Heston; Douglas J Norman; Gary W Small
Evidence for association of HLA-A2 allele with onset age of Alzheimer's disease.
Neurology 1997;49(2):512-8.
1997: TR Klesert; A D Otten; Thomas D Bird; Stephen J Tapscott
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
Nature genetics 1997;16(4):402-6.
1997: James Y Garbern; Franca Cambi; X M Tang; Anders A F Sima; Jean-Michel Vallat; E P Bosch; Richard Alan Lewis; chris hall; J Sohi; G Kraft; KL Chen; I Joshi; D G Leonard; W Johnson; Wendy H Raskind; Stephen R Dlouhy; VM Pratt; ME Hodes; Thomas D Bird; John Kamholz
Proteolipid protein is necessary in peripheral as well as central myelin.
Neuron 1997;19(1):205-18.
1997: Allan Levey; Craig J Heilman; James J Lah; Norman R Nash; Howard D Rees; M Wakai; Suzanne S Mirra; David B Rye; David Nochlin; Thomas D Bird; Elliott J Mufson
Presenilin-1 protein expression in familial and sporadic Alzheimer's disease.
Annals of neurology 1997;41(6):742-53.
1997: Thomas D Bird; George H Kraft; Hillary Lipe; K L Kenney; Shuzo M Sumi
Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
Annals of neurology 1997;41(4):463-9.
1997: Thomas D Bird; Ellen M Wijsman; David Nochlin; M Leehey; Shuzo M Sumi; Haydeh Payami; Parvoneh Poorkaj-Navas; EJ Nemens; M Rafkind; Gerard D Schellenberg
Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.
Neurology 1997;48(4):949-54.
1997: Stephen G Post; Peter J Whitehouse; Robert H Binstock; Thomas D Bird; S K Eckert; Lindsay A Farrer; L M Fleck; Atwood D Gaines; Eric T Juengst; H Karlinsky; S Miles; Thomas H Murray; Kimberly Quaid; Norman Richard Relkin; Allen D Roses; Peter St George-Hyslop; Greg A. Sachs; B Steinbock; E F Truschke; A B Zinn
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.
JAMA : the journal of the American Medical Association 1997;277(10):832-6.
1997: Wendy H Raskind; Margaret Pericak-Vance; F Lennon; John Wolff; Hillary Lipe; Thomas D Bird
Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.
American journal of medical genetics 1997;74(1):26-36.
1997: Debby W Tsuang; Murray A Raskind; James B Leverenz; Elaine Peskind; Gerard D Schellenberg; Thomas D Bird
The effect of apolipoprotein E genotype on expression of an autosomal dominant schizophreniform disorder with progressive dementia and neurofibrillary tangles.
Biological psychiatry 1997;41(2):191-5.
1997: D M A Mann; Takeshi Iwatsubo; David Nochlin; Shuzo M Sumi; E Levy-Lahad; Thomas D Bird
Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.
Annals of neurology 1997;41(1):52-7.
1996: Thomas D Bird; Ephrat Levy-Lahad; Parvoneh Poorkaj-Navas; V Sharma; EJ Nemens; Amnon Lahad; T H Lampe; Gerard D Schellenberg
Wide range in age of onset for chromosome 1--related familial Alzheimer's disease.
Annals of neurology 1996;40(6):932-6.
1996: Masaki Ikeda; V Sharma; Shuzo M Sumi; Ekaterina Rogaeva; Parvoneh Poorkaj-Navas; R Sherrington; Linda E Nee; T Tsuda; N Oda; M Watanabe; M Aoki; Mikio Shoji; K Abe; Y Itoyama; S Hirai; Gerard D Schellenberg; Thomas D Bird; Peter St George-Hyslop
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
Annals of neurology 1996;40(6):912-7.
1996: Ephrat Levy-Lahad; Thomas D Bird
Genetic factors in Alzheimer's disease: a review of recent advances.
Annals of neurology 1996;40(6):829-40.
1996: Greer M Murphy; Lysia S Forno; William G Ellis; David Nochlin; Ephrat Levy-Lahad; Parvoneh Poorkaj-Navas; Thomas D Bird; Z Jiang; Barbara Cordell
Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease.
The American journal of pathology 1996;149(6):1839-46.
1996: P E Greenstein; D Moore; E Levy-Lohad; K Stephens; Thomas D Bird
Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia.
Neurology 1996;47(4):1106-7.
1996: D M A Mann; Takeshi Iwatsubo; Nigel J Cairns; P L Lantos; David Nochlin; Shuzo M Sumi; Thomas D Bird; Parvoneh Poorkaj-Navas; John Hardy; Michael Hutton; Guy Prihar; Richard Crook; Martin N Rossor; Matti Haltia
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).
Annals of neurology 1996;40(2):149-56.
1996: Donalyn Scheuner; Christopher B Eckman; M Jensen; X Song; Martin Citron; N Suzuki; Thomas D Bird; John Hardy; Michael Hutton; Walter A Kukull; Eric B Larson; Ephrat Levy-Lahad; Matti Viitanen; Elaine Peskind; Parvoneh Poorkaj-Navas; Gerard D Schellenberg; Rudolph E Tanzi; Wilma Wasco; Lars Lannfelt; Dennis J Selkoe; Steven G Younkin
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.
Nature medicine 1996;2(8):864-70.
1996: John K Fink; T Heiman-Patterson; Thomas D Bird; Franca Cambi; Marie-Pierre Dubé; Denise A Figlewicz; J K Fink; Jonathan L Haines; Terry D Heiman-Patterson; A Hentati; Margaret Pericak-Vance; W Raskind; Guy Rouleau; Teepu Siddique
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
Neurology 1996;46(6):1507-14.
1996: JE Pellegrino; Timothy R Rebbeck; M J Brown; Thomas D Bird; Phillip F Chance
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.
Neurology 1996;46(4):1128-32.
1996: Haydeh Payami; Sepideh Zareparsi; K R Montee; Gary Sexton; Jeffrey A Kaye; Thomas D Bird; Chang-En Yu; Ellen M Wijsman; L L Heston; M Litt; Gerard D Schellenberg
Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women.
American journal of human genetics 1996;58(4):803-11.
1996: W D Graf; Phillip F Chance; M W Lensch; L J Eng; H P Lipe; Thomas D Bird
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.
Cancer 1996;77(7):1356-62.
1995: William M Coplin; Thomas D Bird
Olivopontocerebellar atrophy.
Annals of neurology 1995;38(6):965-6.
1995: Thomas D Bird
Idiopathic progressive spastic paraparesis.
JAMA : the journal of the American Medical Association 1995;274(15):1191.
1995: Ephrat Levy-Lahad; Amnon Lahad; Ellen M Wijsman; Thomas D Bird; Gerard D Schellenberg
Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease.
Annals of neurology 1995;38(4):678-80.
1995: Laura P W Ranum; J K Lundgren; Lawrence J Schut; M J Ahrens; S Perlman; J Aita; Thomas D Bird; C Gomez; Harry T Orr
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
American journal of human genetics 1995;57(3):603-8.
1995: Ephrat Levy-Lahad; Ellen M Wijsman; EJ Nemens; L Anderson; Katrina Goddard; J L Weber; Thomas D Bird; Gerard D Schellenberg
A familial Alzheimer's disease locus on chromosome 1.
Science (New York, N.Y.) 1995;269(5226):970-3.
1995: Thomas D Bird; R L Bennett
Why do DNA testing? Practical and ethical implications of new neurogenetic tests.
Annals of neurology 1995;38(2):141-6.
1995: Thomas D Bird
Apolipoprotein E genotyping in the diagnosis of Alzheimer's disease: a cautionary view.
Annals of neurology 1995;38(1):2-4.
1994: Phillip F Chance; M W Lensch; H Lipe; R H Brown; R H Brown; Thomas D Bird
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders.
Neurology 1994;44(12):2253-7.
1994: M G Hearn; Steven D Edland; Charles E Ogburn; A C Smith; Thomas D Bird; George M Martin; Ken-Ichiro Fukuchi
Trypsin inhibitor activities of fibroblasts increase with age of donor and are unaltered in familial Alzheimer's disease.
Experimental gerontology 1994;29(6):611-23.
1994: T H Lampe; Thomas D Bird; David Nochlin; EJ Nemens; S C Risse; Shuzo M Sumi; R Koerker; B Leaird; M Wier; Murray A Raskind
Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred.
Annals of neurology 1994;36(3):368-78.
1994: Thomas D Bird
Familial Alzheimer's disease.
Annals of neurology 1994;36(3):335-6.
1994: P Greenstein; Thomas D Bird
Neurogenetics. Triumphs and challenges.
The Western journal of medicine 1994;161(3):242-5.
1994: Haydeh Payami; K R Montee; Jeffrey A Kaye; Thomas D Bird; Chang-En Yu; Ellen M Wijsman; Gerard D Schellenberg
Alzheimer's disease, apolipoprotein E4, and gender.
JAMA : the journal of the American Medical Association 1994;271(17):1316-7.
1994: P James B Dyck; W J Litchy; S Minnerath; Thomas D Bird; P F Chance; D J Schaid; A E Aronson
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis.
Annals of neurology 1994;35(5):608-15.
1994: Thomas D Bird
Poems: Huntington's Disease.
The Western journal of medicine 1994;160(2):179.
1994: Thomas D Bird
Major patterns of human inheritance: relevance to the epilepsies.
Epilepsia 1994;35 Suppl 1():S2-6.
1994: Thomas D Bird; H P Lipe; L D Crabtree
Impotence associated with the Charcot-Marie-Tooth syndrome.
European neurology 1994;34(3):155-7.
1993: H Lipe; A Schultz; Thomas D Bird
Risk factors for suicide in Huntingtons disease: a retrospective case controlled study.
American journal of medical genetics 1993;48(4):231-3.
1993: Haydeh Payami; Jeffrey A Kaye; L L Heston; Thomas D Bird; Gerard D Schellenberg
Apolipoprotein E genotype and Alzheimer's disease.
Lancet 1993;342(8873):738.
1993: Thomas D Bird; EJ Nemens; Walter A Kukull
Conjugal Alzheimer's disease: is there an increased risk in offspring?
Annals of neurology 1993;34(3):396-9.
1993: K Hayasaka; M Himoro; W Sato; Goro Takada; K Uyemura; N Shimizu; Thomas D Bird; P M Conneally; P F Chance
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
Nature genetics 1993;5(1):31-4.
1993: Thomas D Bird
Molecular genetics in neurologic diseases.
The Western journal of medicine 1993;159(2):180-1.
1993: Thomas D Bird
Are linkage studies boring?
Nature genetics 1993;4(3):213-4.
1993: Thomas D Bird; R L Bennett; H P Lipe
The consequences of testing for Huntington's disease.
The New England journal of medicine 1993;328(14):1046.
1993: A Grossmann; Walter A Kukull; J C Jinneman; Thomas D Bird; E C Villacres; Eric B Larson; Peter S Rabinovitch
Intracellular calcium response is reduced in CD4+ lymphocytes in Alzheimer's disease and in older persons with Down's syndrome.
Neurobiology of aging 1993;14(2):177-85.
1993: Phillip F Chance; M K Alderson; K A Leppig; M W Lensch; Nori Matsunami; B Smith; P D Swanson; S J Odelberg; C M Disteche; Thomas D Bird
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Cell 1993;72(1):143-51.
1993: E M Bryant; Thomas D Bird; Charles E Ogburn; G H Traylor; T H Lampe; George M Martin
Lack of detectable radiation hypersensitivity in lymphoblastoid cells from multiple pedigrees of familial Alzheimer disease.
Alzheimer disease and associated disorders 1993;7(2):88-97.
1993: Ellen M Wijsman; Thomas D Bird; George M Martin; Gerard D Schellenberg
The Seattle Alzheimer's disease data set.
Genetic epidemiology 1993;10(6):365-9.
1993: David Nochlin; G van Belle; Thomas D Bird; Shuzo M Sumi
Comparison of the severity of neuropathologic changes in familial and sporadic Alzheimer's disease.
Alzheimer disease and associated disorders 1993;7(4):212-22.
1992: Phillip F Chance; Thomas D Bird; Nori Matsunami; M W Lensch; Arthur R Brothman; G M Feldman
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
Neurology 1992;42(12):2295-9.
1992: Gerard D Schellenberg; Thomas D Bird; Ellen M Wijsman; H T Orr; L Anderson; EJ Nemens; J A White; L Bonnycastle; J L Weber; M E Alonso
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
Science (New York, N.Y.) 1992;258(5082):668-71.
1992: Phillip F Chance; Nori Matsunami; W Lensch; B Smith; Thomas D Bird
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.
Neurology 1992;42(10):2037-41.
1992: Wendy H Raskind; John Wolff; Leonard D Hudson; Thomas D Bird
RFLP detected by a genomic probe from the human X-linked proteolipid protein gene, PLP.
Human molecular genetics 1992;1(4):288.
1992: Nori Matsunami; B Smith; L Ballard; M W Lensch; M Robertson; H Albertsen; C O Hanemann; Hans Werner Müller; Thomas D Bird; Raymond White
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
Nature genetics 1992;1(3):176-9.
1992: Andrea I McClatchey; J Trofatter; Diane McKenna-Yasek; W Raskind; Thomas D Bird; Margaret Pericak-Vance; J Gilchrist; K Arahata; D Radosavljevic; H G Worthen
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
American journal of human genetics 1992;50(5):896-901.
1992: Andrea I McClatchey; P Van den Bergh; Margaret Pericak-Vance; W Raskind; C Verellen; Diane McKenna-Yasek; K Rao; Jonathan L Haines; Thomas D Bird; R H Brown
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
Cell 1992;68(4):769-74.
1992: Gerard D Schellenberg; M Boehnke; Ellen M Wijsman; D K Moore; George M Martin; Thomas D Bird
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease.
Annals of neurology 1992;31(2):223-7.
1992: Shuzo M Sumi; Thomas D Bird; David Nochlin; Murray A Raskind
Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala.
Neurology 1992;42(1):120-7.
1992: RV Lebo; Eric D Lynch; Thomas D Bird; M S Golbus; David Barker; P O'Connell; P F Chance
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.
American journal of human genetics 1992;50(1):42-55.
1992: Gerard D Schellenberg; K Kamino; E M Bryant; D Moore; Thomas D Bird
Genetic heterogeneity, Down syndrome, and Alzheimer disease.
Progress in clinical and biological research 1992;379():215-26.
1991: Wendy H Raskind; C A Williams; Leonard D Hudson; Thomas D Bird
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
American journal of human genetics 1991;49(6):1355-60.
1991: RV Lebo; P F Chance; P J Dyck; M T Redila-Flores; Eric D Lynch; M S Golbus; Thomas D Bird; Mary-Claire King; L A Anderson; J Hall
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.
Human genetics 1991;88(1):1-12.
1991: F H Bahls; K K Ma; Thomas D Bird
Theophylline-associated seizures with "therapeutic" or low toxic serum concentrations: risk factors for serious outcome in adults.
Neurology 1991;41(8):1309-12.
1991: KK Hsiao; C Cass; Gerard D Schellenberg; Thomas D Bird; E Devine-Gage; Henryk M Wisniewski; Stanley B Prusiner
A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.
Neurology 1991;41(5):681-4.
1991: Wendy H Raskind; Ellen M Wijsman; R A Pagon; Timothy C Cox; M J Bawden; Brian K May; Thomas D Bird
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
American journal of human genetics 1991;48(2):335-41.
1990: Phillip F Chance; Thomas D Bird; Peter O'Connell; H Lipe; Jean-Marc Lalouel; M Leppert
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
American journal of human genetics 1990;47(6):915-25.
1990: George M Martin; Gerard D Schellenberg; E M Wijsman; Thomas D Bird
Alzheimer's disease. Dominant susceptibility genes.
Nature 1990;347(6289):124.
1990: K Eto; Shuzo M Sumi; Thomas D Bird; T McEvoy-Bush; M Boehnke; Gerard D Schellenberg
Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?
Archives of neurology 1990;47(9):968-74.
1990: H Lipe; W T Longstreth; Thomas D Bird; M Linde
Sexual function in married men with Parkinson's disease compared to married men with arthritis.
Neurology 1990;40(9):1347-9.
1990: S R Hamilton; G E Chatrian; Richard P Mills; R E Kalina; Thomas D Bird
Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia.
Archives of ophthalmology 1990;108(4):551-6.
1990: Lindsay A Farrer; Richard H Myers; L Adrienne Cupples; Peter St George-Hyslop; Thomas D Bird; Martin N Rossor; Michael Mullan; R Polinsky; Linda E Nee; L Heston
Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity.
Neurology 1990;40(3 Pt 1):395-403.
1990: S C Risse; Murray A Raskind; David Nochlin; Shuzo M Sumi; T H Lampe; Thomas D Bird; L Cubberley; Elaine Peskind
Neuropathological findings in patients with clinical diagnoses of probable Alzheimer's disease.
The American journal of psychiatry 1990;147(2):168-72.
1990: S C Risse; T H Lampe; Thomas D Bird; David Nochlin; Shuzo M Sumi; T Keenan; L Cubberley; Elaine Peskind; Murray A Raskind
Myoclonus, seizures, and paratonia in Alzheimer disease.
Alzheimer disease and associated disorders 1990;4(4):217-25.
1989: Thomas D Bird; Gerard D Schellenberg; Ellen M Wijsman; George M Martin
Evidence for etiologic heterogeneity in Alzheimer's disease.
Neurobiology of aging 1989;10(5):432-4; discussion 446-8.
1989: David Nochlin; Shuzo M Sumi; Thomas D Bird; AD Snow; C M Leventhal; Konrad Beyreuther; Colin L Masters
Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome.
Neurology 1989;39(7):910-8.
1989: Thomas D Bird
Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome.
Neurologic clinics 1989;7(1):9-23.
1989: Thomas D Bird; Shuzo M Sumi; EJ Nemens; David Nochlin; Gerard D Schellenberg; T H Lampe; A Sadovnick; H Chui; G W Miner; J Tinklenberg
Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds.
Annals of neurology 1989;25(1):12-25.
1989: Thomas D Bird; T H Lampe; EJ Nemens; Shuzo M Sumi; David Nochlin; Gerard D Schellenberg; Ellen M Wijsman
Characteristics of familial Alzheimer's disease in nine kindreds of Volga German ancestry.
Progress in clinical and biological research 1989;317():229-34.
1989: Gerard D Schellenberg; Thomas D Bird; Ellen M Wijsman; D K Moore; George M Martin
The genetics of Alzheimer's disease.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1989;43(7):463-8.
1988: Gerard D Schellenberg; Thomas D Bird; Ellen M Wijsman; D K Moore; M Boehnke; E M Bryant; T H Lampe; David Nochlin; Shuzo M Sumi; Samir S Deeb
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease.
Science (New York, N.Y.) 1988;241(4872):1507-10.
1988: Thomas D Bird; T H Lampe; EJ Nemens; G W Miner; Shuzo M Sumi; Gerard D Schellenberg
Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect.
Annals of neurology 1988;23(1):25-31.
1987: Gerard D Schellenberg; Samir S Deeb; M Boehnke; E M Bryant; George M Martin; T H Lampe; Thomas D Bird
Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type.
Journal of neurogenetics 1987;4(2-3):97-108.
1987: Thomas D Bird; M Boehnke; Gerard D Schellenberg; S S Deeb; H P Lipe
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy.
Archives of neurology 1987;44(3):273-5.
1987: P F Chance; J C Murray; Thomas D Bird; R S Kochin
Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.
Neurology 1987;37(2):325-9.
1987: Thomas D Bird; M Boehnke; J Anderson; T H Lampe; Gerard D Schellenberg; Eric B Larson
The frequency of C4B variants of complement in familial and sporadic Alzheimer disease.
Alzheimer disease and associated disorders 1987;1(4):251-5.
1987: Thomas D Bird
Genetic considerations in childhood epilepsy.
Epilepsia 1987;28 Suppl 1():S71-81.
1986: Thomas D Bird; J Hewitt; P M Conneally; Michael R Hayden
Linkage of the G8 marker on chromosome 4 to Huntington's disease in a large American black family.
The New England journal of medicine 1986;315(18):1165-6.
1985: J C Murray; J A Johnson; Thomas D Bird
Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks.
Clinical genetics 1985;28(4):272-83.
1985: D M Wallace; D A Kalman; Thomas D Bird
Hazardous lead release from glazed dinnerware: a cautionary note.
The Science of the total environment 1985;44(3):289-92.
1985: R A Pagon; Thomas D Bird; J C Detter; I Pierce
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.
Journal of medical genetics 1985;22(4):267-73.
1985: V P Sybert; Thomas D Bird; D J Salk
Pseudotumour cerebri and the Turner syndrome.
Journal of neurology, neurosurgery, and psychiatry 1985;48(2):164-6.
1985: Thomas D Bird; Shuzo M Sumi; M D Schuffler
Neuronal intranuclear inclusion disease in two adult siblings.
Annals of neurology 1985;17(2):212-3.
1985: Thomas D Bird
Medical genetics and clinical neurology: the common ground.
Progress in medical genetics 1985;6():1-8.
1984: W L Stahl; C B Ward; J B Casper; Thomas D Bird
Effects of L-glutamate on viabilities of cultured diploid skin fibroblasts and lymphocytes. Increased toxicity not observed in Huntington's disease.
Journal of the neurological sciences 1984;66(2-3):183-91.
1984: Thomas D Bird; S R Harris
New hope for the retarded?
American journal of medical genetics 1984;18(1):183-4.
1984: John G Nutt; Thomas D Bird
Essential myoclonus in a kindred with familial malignant melanoma.
Archives of neurology 1984;41(2):189-91.
1984: Thomas D Bird; A M Reenan; M Pfeifer
Autonomic nervous system function in genetic neuromuscular disorders. Hereditary motor-sensory neuropathy and myotonic dystrophy.
Archives of neurology 1984;41(1):43-6.
1983: Thomas D Bird; J Ott; E R Giblett; P F Chance; Shuzo M Sumi; G H Kraft
Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).
Annals of neurology 1983;14(6):679-84.
1983: Thomas D Bird; C Follett; E Griep
Cognitive and personality function in myotonic muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 1983;46(11):971-80.
1983: Thomas D Bird; S Stranahan; Shuzo M Sumi; Murray A Raskind
Alzheimer's disease: choline acetyltransferase activity in brain tissue from clinical and pathological subgroups.
Annals of neurology 1983;14(3):284-93.
1983: Thomas D Bird; R M Koerker; B J Leaird; B W Vlcek; D R Thorning
Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia.
Neurology 1983;33(1):81-6.
1982: W T Longstreth; J R Daven; D F Farrell; J W Bolen; Thomas D Bird
Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.
Neurology 1982;32(11):1295-9.
1982: Thomas D Bird; J Ott; E R Giblett
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
American journal of human genetics 1982;34(3):388-94.
1982: Thomas D Bird; D M Wallace; R F Labbe
The porphyria, plumbism, pottery puzzle.
JAMA : the journal of the American Medical Association 1982;247(6):813-4.
1982: Thomas D Bird
Inherited peroneal muscular atrophy.
Muscle & nerve 1982;5(2):178-9.
1981: Thomas D Bird; E Griep
Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy.
Archives of neurology 1981;38(12):739-41.
1981: Thomas D Bird
Hereditary motor and sensory neuropathy.
Journal of medical genetics 1981;18(5):399.
1981: Thomas D Bird; D F Farrell; S Stranahan
Genetic control of developmental patterns of cerebral enzyme activities: further differences between C3H and ICR strains of mice.
Neurochemical research 1981;6(8):863-71.
1981: Mark T. Jennings; Thomas D Bird
Genetic influences in the epilepsies. Review of the literature with practical implications.
American journal of diseases of children (1960) 1981;135(5):450-7.
1981: Thomas D Bird
Myotonic dystrophy associated with Down syndrome (trisomy 21).
Neurology 1981;31(4):440-2.
1981: Thomas D Bird; W E Crill
Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations.
Annals of neurology 1981;9(3):243-50.
1980: Thomas D Bird; D F Farrell; S Stranahan; E Austin
Developmental dissociation of myelin synthesis and "myelin-associated" enzyme activities in the shiverer mouse.
Neurochemical research 1980;5(8):885-95.
1980: Thomas D Bird
Mitral valve prolapse and cerebral ischemic events.
The New England journal of medicine 1980;302(24):1363.
1979: Thomas D Bird; P Hamernyik; J Y Nutter; R F Labbe
Inherited deficiency of delta-aminolevulinic acid dehydratase.
American journal of human genetics 1979;31(6):662-8.
1979: Thomas D Bird
Nicolaus A. Friedreich's description of peripheral facial nerve paralysis in 1798.
Journal of neurology, neurosurgery, and psychiatry 1979;42(1):56-8.
1978: Thomas D Bird; David Lagunoff
Neurological manifestations of Fabry disease in female carriers.
Annals of neurology 1978;4(6):537-40.
1978: M D Schuffler; Thomas D Bird; Shuzo M Sumi; A Cook
A familial neuronal disease presenting as intestinal pseudoobstruction.
Gastroenterology 1978;75(5):889-98.
1978: Thomas D Bird; J G Hall
Additional information on familial essential (benign) chorea.
Clinical genetics 1978;14(5):271-2.
1978: Thomas D Bird; G H Kraft
Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.
Clinical genetics 1978;14(1):43-9.
1978: Thomas D Bird; D F Farrell; Shuzo M Sumi
Brain lipid composition of the shiverer mouse: (genetic defect in myelin development).
Journal of neurochemistry 1978;31(1):387-91.
1978: Thomas D Bird; C B Carlson; M Horning
Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial.
Epilepsia 1978;19(2):129-32.
1978: Thomas D Bird; J L Turner; Shuzo M Sumi; E L Bierman
Abnormal function of endocrine pancreas and anterior pituitary in Friedreich's ataxia. Studies in a family.
Annals of internal medicine 1978;88(4):478-81.
1978: Thomas D Bird; S Cederbaum; R W Valey; W L Stahl
Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study.
Annals of neurology 1978;3(3):253-8.
1978: A W Cook; Thomas D Bird; A M Spence; R A Pagon; J F Wallace
Myotonic dystrophy, mitral-valve prolapse, and stroke.
Lancet 1978;1(8059):335-6.
1978: Thomas D Bird; C M Shaw
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.
Journal of neurology, neurosurgery, and psychiatry 1978;41(2):140-9.
1977: Thomas D Bird; J G Hall
Clinical neurogenetics. A survey of the relationship of medical genetics to clinical neurology.
Neurology 1977;27(11):1057-60.
1977: Gilbert S Omenn; Thomas D Bird; S D Johnsen
Serotonin in essential myoclonus.
The New England journal of medicine 1977;297(8):454.
1976: Thomas D Bird
Normal glutamic acid decarboxylase activity in kidney tissue from patients with Huntington's Disease.
Journal of neurochemistry 1976;27(6):1555-7.
1976: L R Peterson; P Hamernyik; Thomas D Bird; R F Labbé
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria.
Clinical chemistry 1976;22(11):1835-40.
1976: Thomas D Bird; C B Carlson; J G Hall
Familial essential ("benign") chorea.
Journal of medical genetics 1976;13(5):357-62.
1975: Thomas D Bird; Gilbert S Omenn
Monozygotic twins with Huntington's disease in a family expressing the rigid variant.
Neurology 1975;25(12):1126-9.
1975: Thomas D Bird
Appparent familial multiple sclerosis in three generations. Report of a family with histocompatibility antigen typing.
Archives of neurology 1975;32(6):414-6.
1970: Thomas D Bird
Where prevention starts.
Northwest medicine 1970;69(8):553.
1968: Thomas D Bird; F Plum
Recovery from barbiturate overdose coma with a prolonged isoelectric electroencephalogram.
Neurology 1968;18(5):456-60.
1965: F W King; Thomas D Bird
Trail Making Test: norms for college males and relationship to scholastic aptitude.
Perceptual and motor skills 1965;21(1):199-206.