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Diane McKenna-Yasek

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Paloma González-Pérez; Yubing Lu; Diane McKenna-Yasek; Peter C Sapp; Rudolph E Tanzi; Lars Bertram; Ru-Ju Chian; Fen-Biao Gao; Robert H Brown
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.
Paloma González-Pérez; Diane McKenna-Yasek; Puiu Nisipeanu; Menachem Sadeh; Peter C Sapp; Robert H Brown; Ralph L Carasso; Elizabeth T Cirulli; Ron Dabby; Vivian E Drory; Barry W Festoff; Andrew Fox; David B Goldstein; Sergiu C Blumen
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
Nicola Ticozzi; Marka van Blitterswijk; Anne-Marie Wills; Robert H Brown; Pamela Keagle; Ashley Lyn LeClerc; Diane McKenna-Yasek; Peter C Sapp; Vincenzo Silani; John E Landers
Mutational analysis of TARDBP in neurodegenerative diseases.

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All Publications

2012: Paloma González-Pérez; Yubing Lu; Diane McKenna-Yasek; Peter C Sapp; Rudolph E Tanzi; Lars Bertram; Ru-Ju Chian; Fen-Biao Gao; Robert H Brown
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.
Neurobiology of disease 2012;48(3):391-8.
2012: Paloma González-Pérez; Diane McKenna-Yasek; Puiu Nisipeanu; Menachem Sadeh; Peter C Sapp; Robert H Brown; Ralph L Carasso; Elizabeth T Cirulli; Ron Dabby; Vivian E Drory; Barry W Festoff; Andrew Fox; David B Goldstein; Sergiu C Blumen
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
Neurology 2012;79(22):2201-8.
2011: Nicola Ticozzi; Marka van Blitterswijk; Anne-Marie Wills; Robert H Brown; Pamela Keagle; Ashley Lyn LeClerc; Diane McKenna-Yasek; Peter C Sapp; Vincenzo Silani; John E Landers
Mutational analysis of TARDBP in neurodegenerative diseases.
Neurobiology of aging 2011;32(11):2096-9.
2011: N Ticozzi; C Vance; A L Leclerc; P Keagle; Jonathan D Glass; Diane McKenna-Yasek; Peter C Sapp; Vincenzo Silani; D A Bosco; C E Shaw; Robert H Brown; J E Landers
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(3):285-90.
2010: Daryl A Bosco; Gerardo Morfini; N Murat Karabacak; Yuyu Song; Francois Gros-Louis; Piera Pasinelli; Holly Goolsby; Benjamin A Fontaine; Nathan Lemay; Diane McKenna-Yasek; Matthew P Frosch; Jeffrey N Agar; Jean-Pierre Julien; Scott T Brady; Robert H Brown
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.
Nature neuroscience 2010;13(11):1396-403.
2010: Daryl A Bosco; Nathan Lemay; Hae Kyung Ko; Hongru Zhou; Chris Burke; Thomas J Kwiatkowski; Peter Sapp; Diane McKenna-Yasek; Robert H Brown; Lawrence J Hayward
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Human molecular genetics 2010;19(21):4160-75.
2010: Nicola Ticozzi; Ashley Lyn LeClerc; Pamela J Keagle; Jonathan D Glass; Anne-Marie Wills; Marka van Blitterswijk; Daryl A Bosco; Ildefonso Rodriguez-Leyva; Cinzia Gellera; Antonia Ratti; Franco Taroni; Diane McKenna-Yasek; Peter C Sapp; Vincenzo Silani; Clement E Furlong; Robert H Brown; John E Landers
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Annals of neurology 2010;68(1):102-7.
2009: N Ticozzi; V Silani; A L LeClerc; P Keagle; Cinzia Gellera; A Ratti; F Taroni; T J Kwiatkowski; Diane McKenna-Yasek; Peter C Sapp; R H Brown; J E Landers
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.
Neurology 2009;73(15):1180-5.
2009: T J Kwiatkowski; D A Bosco; A L Leclerc; E Tamrazian; Charles R Vanderburg; C Russ; A Davis; J Gilchrist; E J Kasarskis; T Munsat; P Valdmanis; G A Rouleau; Betsy A Hosler; P Cortelli; P J de Jong; Y Yoshinaga; Jonathan L Haines; Margaret Pericak-Vance; J Yan; N Ticozzi; Teepu Siddique; Diane McKenna-Yasek; Peter C Sapp; H Robert Horvitz; J E Landers; Robert H Brown
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Science (New York, N.Y.) 2009;323(5918):1205-8.
2008: John E Landers; Lijia Shi; Ting-Jan Cho; Jonathan D Glass; Christopher Shaw; P Nigel Leigh; Frank Diekstra; Meraida Polak; Ildefonso Rodriguez-Leyva; Stephan Niemann; Bryan Joseph Traynor; Diane McKenna-Yasek; Peter C Sapp; Ammar Al-Chalabi; Anne-Marie A Wills; Robert H Brown
A common haplotype within the PON1 promoter region is associated with sporadic ALS.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2008;9(5):306-14.
2008: Wendy J Broom; Matthew Greenway; Ghazaleh Sadri-Vakili; Carsten Russ; Kristen E Auwarter; Kelly E Glajch; Nicolas Dupre; Robert J Swingler; Shaun Purcell; Caroline Hayward; Peter C Sapp; Diane McKenna-Yasek; Paul N Valdmanis; Jean-Pierre Bouchard; Vincent Meininger; Betsy A Hosler; Jonathan D Glass; Meraida Polack; Guy A Rouleau; Jang-Ho Cha; Orla Hardiman; Robert H Brown
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2008;9(4):229-37.
2008: J E Landers; A L Leclerc; L Shi; A Virkud; T Cho; Michele M Maxwell; A F Henry; M Polak; Jonathan D Glass; T J Kwiatkowski; A Al-Chalabi; Christopher Shaw; P N Leigh; I Rodriguez-Leyza; Diane McKenna-Yasek; Peter C Sapp; Robert H Brown
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.
Neurology 2008;70(14):1179-85.
2008: Wendy J Broom; D V Johnson; K E Auwarter; A John Iafrate; Carsten Russ; A Al-Chalabi; Peter C Sapp; Diane McKenna-Yasek; Peter M Andersen; Robert H Brown
SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia.
Neuroscience letters 2008;430(3):241-5.
2008: Umesh Vivekananda; Clare Johnston; Diane McKenna-Yasek; Christopher Shaw; P Nigel Leigh; Robert H Brown; Ammar Al-Chalabi
Birth order and the genetics of amyotrophic lateral sclerosis.
Journal of neurology 2008;255(1):99-102.
2007: Isabella Fogh; Frühling Rijsdijk; Peter M Andersen; Pak C Sham; Joanne Knight; Benjamin Neale; Diane McKenna-Yasek; Vincenzo Silani; Robert H Brown; John F Powell; Ammar Al-Chalabi
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.
Neurogenetics 2007;8(3):235-6.
2006: Wendy J Broom; Carsten Russ; Peter C Sapp; Diane McKenna-Yasek; Betsy A Hosler; Peter M Andersen; Robert H Brown
Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.
Neuroscience letters 2006;392(1-2):52-7.
2004: Yi-Ju Li; Margaret Pericak-Vance; Jonathan L Haines; Nailah Siddique; Diane McKenna-Yasek; Wu-Yen Hung; Peter C Sapp; Coy I Allen; Wenjie Chen; Betsy A Hosler; Ann M Saunders; Lisa Dellefave; Robert H Brown; Teepu Siddique
Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.
Neurogenetics 2004;5(4):209-13.
2003: Peter C Sapp; Betsy A Hosler; Diane McKenna-Yasek; Wendy Chin; Amity Gann; Hilary Genise; Julie Gorenstein; Michael Huang; Wen Sailer; Meg Scheffler; Marianne Valesky; Jonathan L Haines; Margaret Pericak-Vance; Teepu Siddique; H Robert Horvitz; Robert H Brown
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
American journal of human genetics 2003;73(2):397-403.
2003: Ammar Al-Chalabi; Valerie K Hansen; Claire L Simpson; Jing Xi; Betsy A Hosler; John F Powell; Diane McKenna-Yasek; Christopher Shaw; P Nigel Leigh; Robert H Brown
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.
Neurogenetics 2003;4(4):221-2.
2002: Mitsuya Morita; Mac Ho; Betsy A Hosler; Diane McKenna-Yasek; Robert H Brown
A novel mutation in the spastin gene in a family with spastic paraplegia.
Neuroscience letters 2002;325(1):57-61.
2002: Mengfatt Ho; Eduard Gallardo; Diane McKenna-Yasek; Noemí De Luna; Isabel Illa; Robert H Brown Jr
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.
Annals of neurology 2002;51(1):129-33.
2001: M Aoki; J Liu; Isabelle Richard; Rumaisa Bashir; S Britton; Sharon M Keers; J Oeltjen; H E Brown; Sylvie Marchand; Nathalie Bourg; C Beley; Diane McKenna-Yasek; Kiichi Arahata; Saeed Bohlega; Edward Cupler; Isabel Illa; I Majneh; R J Barohn; J Andoni Urtizberea; M Fardeau; A Amato; Corrado Angelini; Kate Bushby; Jacques Beckmann; Robert H Brown
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Neurology 2001;57(2):271-8.
2000: Betsy A Hosler; Teepu Siddique; Peter C Sapp; W Sailor; M C Huang; A Hossain; J R Daube; M Nance; C Fan; Joshua M Kaplan; Wu-Yen Hung; Diane McKenna-Yasek; Jonathan L Haines; Margaret Pericak-Vance; H Robert Horvitz; Robert H Brown
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.
JAMA : the journal of the American Medical Association 2000;284(13):1664-9.
1999: Khemissa Bejaoui; Diane McKenna-Yasek; Betsy A Hosler; E Burns-Deater; L M Deater; Gilmore O'Neill; Jonathan L Haines; Robert H Brown
Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.
Neurology 1999;52(3):510-5.
1998: Betsy A Hosler; Peter C Sapp; R Berger; Gilmore O'Neill; Khemissa Bejaoui; MB Hamida; Faycal Hentati; Wendy Chin; Diane McKenna-Yasek; Jonathan L Haines; D Patterson; H Robert Horvitz; Robert H Brown; C B Day
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.
Neurogenetics 1998;2(1):34-42.
1998: J Liu; M Aoki; Isabel Illa; C Wu; M Fardeau; Corrado Angelini; C Serrano; J Andoni Urtizberea; Faycal Hentati; MB Hamida; Saeed Bohlega; E J Culper; A A Amato; K Bossie; J Oeltjen; Khemissa Bejaoui; Diane McKenna-Yasek; Betsy A Hosler; E Schurr; Kiichi Arahata; P J de Jong; Robert H Brown
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Nature genetics 1998;20(1):31-6.
1998: A M Neumeyer; Didier Cros; Diane McKenna-Yasek; A Zawadzka; Eric Hoffman; E Pegoraro; R G Hunter; T L Munsat; Robert H Brown
Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy.
Neurology 1998;51(2):589-92.
1998: Merit E Cudkowicz; Diane McKenna-Yasek; C Chen; E Tessa Hedley-Whyte; Robert H Brown
Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.
Annals of neurology 1998;43(6):703-10.
1998: Teepu Siddique; Margaret Pericak-Vance; J Caliendo; S T Hong; Wu-Yen Hung; J Kaplan; Diane McKenna-Yasek; Jacqueline B Rimmler; Peter C Sapp; Ann M Saunders; William Scott; Nailah Siddique; Jonathan L Haines; Robert H Brown
Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis.
Neurogenetics 1998;1(3):213-6.
1998: Khemissa Bejaoui; J Liu; Diane McKenna-Yasek; D Le Paslier; K Bossie; D M Gilligan; Robert H Brown
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes.
Neurogenetics 1998;1(3):189-96.
1998: J Esteban; A M Neumeyer; Diane McKenna-Yasek; Robert H Brown
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.
Neurogenetics 1998;1(3):185-8.
1997: Merit E Cudkowicz; Diane McKenna-Yasek; P E Sapp; Wendy Chin; B Geller; D L Hayden; David Schoenfeld; Betsy A Hosler; H Robert Horvitz; Robert H Brown
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
Annals of neurology 1997;41(2):210-21.
1996: Betsy A Hosler; G A Nicholson; P C Sapp; W Chin; Richard W Orrell; Jackie de Belleroche; J Esteban; L J Hayward; Diane McKenna-Yasek; L Yeung; A K Cherryson; J E Dench; Stephen D Wilton; Nigel G Laing; H R Horvitz; R H Brown
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD 1996;6(5):361-6.
1996: C L Grosson; J Esteban; Diane McKenna-Yasek; James Gusella; R H Brown
Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
Neuromuscular disorders : NMD 1996;6(1):27-31.
1995: P C Sapp; D R Rosen; Betsy A Hosler; J Esteban; Diane McKenna-Yasek; J P O'Regan; H Robert Horvitz; R H Brown
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD 1995;5(5):353-7.
1995: A C Bowling; E E Barkowski; Diane McKenna-Yasek; P Sapp; H Robert Horvitz; M Flint Beal; R H Brown
Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis.
Journal of neurochemistry 1995;64(5):2366-9.
1995: Khemissa Bejaoui; K Hirabayashi; Faycal Hentati; Jonathan L Haines; Christiane Ben Hamida; Samir Belal; R G Miller; Diane McKenna-Yasek; J Weissenbach; L P Rowland
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
Neurology 1995;45(4):768-72.
1995: J S Parboosingh; Guy Rouleau; V Meninger; Diane McKenna-Yasek; R H Brown; Denise A Figlewicz
Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD 1995;5(1):7-10.
1994: Denise A Figlewicz; Melvin G McInnis; J Goto; Jonathan L Haines; AC Warren; A Krizus; N Khodr; R H Brown; Diane McKenna-Yasek; Stylianos Antonarakis
Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21.
Journal of the neurological sciences 1994;124 Suppl():90-5.
1994: J Esteban; D R Rosen; A C Bowling; P Sapp; Diane McKenna-Yasek; J P O'Regan; M Flint Beal; H Robert Horvitz; R H Brown
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
Human molecular genetics 1994;3(6):997-8.
1994: D R Rosen; A C Bowling; D Patterson; T B Usdin; P Sapp; E Mezey; Diane McKenna-Yasek; J O'Regan; Z Rahmani; Robert J Ferrante
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
Human molecular genetics 1994;3(6):981-7.
1994: D R Rosen; P Sapp; J O'Regan; Diane McKenna-Yasek; K S Schlumpf; Jonathan L Haines; James Gusella; H Robert Horvitz; R H Brown
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
American journal of medical genetics 1994;51(1):61-9.
1994: Wim Robberecht; P Sapp; M K Viaene; D Rosen; Diane McKenna-Yasek; Jonathan L Haines; R Horvitz; P Theys; R Brown
Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis.
Journal of neurochemistry 1994;62(1):384-7.
1992: Andrea I McClatchey; Diane McKenna-Yasek; D Cros; H G Worthen; R W Kuncl; S M DeSilva; David R Cornblath; James Gusella; R H Brown
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
Nature genetics 1992;2(2):148-52.
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.
1991: Teepu Siddique; Denise A Figlewicz; Margaret Pericak-Vance; Jonathan L Haines; G Rouleau; A J Jeffers; P Sapp; Wu-Yen Hung; J Bebout; Diane McKenna-Yasek
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.
The New England journal of medicine 1991;324(20):1381-4.
1991: R H Brown; H Robert Horvitz; G A Rouleau; Diane McKenna-Yasek; C Beard; P Sapp; Jonathan L Haines; James Gusella; Denise A Figlewicz
Gene linkage in familial amyotrophic lateral sclerosis: a progress report.
Advances in neurology 1991;56():215-26.