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Susan Bressman
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49
Ozelius, Laurie
34
Brin, Mitchell
34
Fahn, Stanley
30
de Leon, Deborah
30
Kramer, Patricia
28
Klein, Christine
28
Saunders-Pullman, Rachel
23
Raymond, Deborah
20
Breakefield, Xandra
13
Risch, Neil
11
Burke, Robert
11
Eidelberg, David
11
Greene, Paul
11
Heiman, Gary
9
Nygaard, TG
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All Publications
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2009: Argyelan Miklos; Carbon Maren; Niethammer Martin; Ulug Aziz M; Voss Henning U; Bressman Susan B; Dhawan Vijay; Eidelberg David
Cerebellothalamocortical connectivity regulates penetrance in dystonia.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(31):9740-7.
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2009: Schwarz Cordelia S; Bressman Susan B
Genetics and treatment of dystonia.
Neurologic clinics 2009;27(3):697-718, vi.
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2009: Shanker Vicki; Bressman Susan B
What's new in dystonia?
Current neurology and neuroscience reports 2009;9(4):278-84.
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2009: Carbon M; Niethammer M; Peng S; Raymond D; Dhawan V; Chaly T; Ma Y; Bressman S; Eidelberg D
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.
Neurology 2009;72(24):2097-103.
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2009: Bressman Susan B; Raymond Deborah; Fuchs Tania; Heiman Gary A; Ozelius Laurie J; Saunders-Pullman Rachel
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Lancet neurology 2009;8(5):441-6.
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2009: Schmidt A; Jabusch H-C; Altenmüller E; Hagenah J; Brüggemann N; Lohmann K; Enders L; Kramer P L; Saunders-Pullman R; Bressman S B; Münchau A; Klein C
Etiology of musician's dystonia: familial or environmental?
Neurology 2009;72(14):1248-54.
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2009: Fuchs Tania; Gavarini Sophie; Saunders-Pullman Rachel; Raymond Deborah; Ehrlich Michelle E; Bressman Susan B; Ozelius Laurie J
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Nature genetics 2009;41(3):286-8.
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2008: Ludlow Christy L; Adler Charles H; Berke Gerald S; Bielamowicz Steven A; Blitzer Andrew; Bressman Susan B; Hallett Mark; Jinnah H A; Juergens Uwe; Martin Sandra B; Perlmutter Joel S; Sapienza Christine; Singleton Andrew; Tanner Caroline M; Woodson Gayle E
Research priorities in spasmodic dysphonia.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2008;139(4):495-505.
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2008: Healy Daniel G; Falchi Mario; O'Sullivan Sean S; Bonifati Vincenzo; Durr Alexandra; Bressman Susan; Brice Alexis; Aasly Jan; Zabetian Cyrus P; Goldwurm Stefano; Ferreira Joaquim J; Tolosa Eduardo; Kay Denise M; Klein Christine; Williams David R; Marras Connie; Lang Anthony E; Wszolek Zbigniew K; Berciano Jose; Schapira Anthony H V; Lynch Timothy; Bhatia Kailash P; Gasser Thomas; Lees Andrew J; Wood Nicholas W;
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Lancet neurology 2008;7(7):583-90.
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2008: Raymond Deborah; Saunders-Pullman Rachel; de Carvalho Aguiar Patricia; Schule Birgitt; Kock Norman; Friedman Jennifer; Harris Juliette; Ford Blair; Frucht Steven; Heiman Gary A; Jennings Danna; Doheny Dana; Brin Mitchell F; de Leon Brin Deborah; Multhaupt-Buell Trisha; Lang Anthony E; Kurlan Roger; Klein Christine; Ozelius Laurie; Bressman Susan
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Movement disorders : official journal of the Movement Disorder Society 2008;23(4):588-92.
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2008: Saunders-Pullman Rachel; Derby Carol; Stanley Kaili; Floyd Alicia; Bressman Susan; Lipton Richard B; Deligtisch Amanda; Severt Lawrence; Yu Qiping; Kurtis Mónica; Pullman Seth L
Validity of spiral analysis in early Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2008;23(4):531-7.
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2008: Carbon Maren; Kingsley Peter B; Tang Chengke; Bressman Susan; Eidelberg David
Microstructural white matter changes in primary torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 2008;23(2):234-9.
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2008: Carbon Maren; Ghilardi Maria Felice; Argyelan Miklos; Dhawan Vijay; Bressman Susan B; Eidelberg David
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study.
Brain : a journal of neurology 2008;131(Pt 1):146-54.
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2007: Saunders-Pullman Rachel; Raymond Deborah; Senthil Geetha; Kramer Patricia; Ohmann Erin; Deligtisch Amanda; Shanker Vicki; Greene Paul; Tabamo Rowena; Huang Neng; Tagliati Michele; Kavanagh Patricia; Soto-Valencia Jeannie; Aguiar Patricia de Carvalho; Risch Neil; Ozelius Laurie; Bressman Susan
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.
American journal of medical genetics. Part A 2007;143A(18):2098-105.
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2007: Alterman R L; Miravite J; Weisz D; Shils J L; Bressman S B; Tagliati M
Sixty hertz pallidal deep brain stimulation for primary torsion dystonia.
Neurology 2007;69(7):681-8.
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2007: Risch Neil J; Bressman Susan B; Senthil Geetha; Ozelius Laurie J
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
American journal of human genetics 2007;80(6):1188-93.
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2007: Heiman Gary A; Ottman Ruth; Saunders-Pullman Rachel J; Ozelius Laurie J; Risch Neil J; Bressman Susan B
Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):361-4.
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2007: Brashear Allison; Dobyns William B; de Carvalho Aguiar Patricia; Borg Michel; Frijns C J M; Gollamudi Seema; Green Andrew; Guimaraes João; Haake Bret C; Klein Christine; Linazasoro Gurutz; Münchau Alexander; Raymond Deborah; Riley David; Saunders-Pullman Rachel; Tijssen Marina A J; Webb David; Zaremba Jacek; Bressman Susan B; Ozelius Laurie J
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain : a journal of neurology 2007;130(Pt 3):828-35.
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2007: Hess C W; Raymond D; Aguiar P de Carvalho; Frucht S; Shriberg J; Heiman G A; Kurlan R; Klein C; Bressman S B; Ozelius L J; Saunders-Pullman R
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
Neurology 2007;68(7):522-4.
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2007: Bressman Susan B
Genetics of dystonia: an overview.
Parkinsonism & related disorders 2007;13 Suppl 3():S347-55.
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2006: Geyer Howard L; Bressman Susan B
The diagnosis of dystonia.
Lancet neurology 2006;5(9):780-90.
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2006: Schmidt A; Jabusch H-C; Altenmüller E; Hagenah J; Brüggemann N; Hedrich K; Saunders-Pullman R; Bressman S B; Kramer P L; Klein C
Dominantly transmitted focal dystonia in families of patients with musician's cramp.
Neurology 2006;67(4):691-3.
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2006: Saunders-Pullman Rachel; Lipton Richard B; Senthil Geetha; Katz Mindy; Costan-Toth Camille; Derby Carol; Bressman Susan; Verghese Joe; Ozelius Laurie J
Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia.
Neuroscience letters 2006;402(1-2):92-6.
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2006: Ozelius Laurie J; Senthil Geetha; Saunders-Pullman Rachel; Ohmann Erin; Deligtisch Amanda; Tagliati Michele; Hunt Ann L; Klein Christine; Henick Brian; Hailpern Susan M; Lipton Richard B; Soto-Valencia Jeannie; Risch Neil; Bressman Susan B
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
The New England journal of medicine 2006;354(4):424-5.
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2006: Bressman S
Genetics of dystonia.
Journal of neural transmission. Supplementum 2006;(70):489-95.
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2005: O'Dwyer J P; O'Riordan S; Saunders-Pullman R; Bressman S B; Molloy F; Lynch T; Hutchinson M
Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.
Neurology 2005;65(6):938-40.
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2005: Saunders-Pullman R; Soto-Valencia J; Costan-Toth C; Shriberg J; Raymond D; Derby C A; Lipton R B; Bressman S B
A new screening tool for cervical dystonia.
Neurology 2005;64(12):2046-9.
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2005: Asanuma Kotaro; Ma Yilong; Huang Chaorui; Carbon-Correll Maren; Edwards Christine; Raymond Deborah; Bressman Susan B; Moeller James R; Eidelberg David
The metabolic pathology of dopa-responsive dystonia.
Annals of neurology 2005;57(4):596-600.
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2005: Hagenah J; Saunders-Pullman R; Hedrich K; Kabakci K; Habermann K; Wiegers K; Mohrmann K; Lohnau T; Raymond D; Vieregge P; Nygaard T; Ozelius L J; Bressman S B; Klein C
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Neurology 2005;64(5):908-11.
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2005: Asanuma K; Ma Y; Okulski J; Dhawan V; Chaly T; Carbon M; Bressman S B; Eidelberg D
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.
Neurology 2005;64(2):347-9.
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2004: Saunders-Pullman R; Blau N; Hyland K; Zschocke J; Nygaard T; Raymond D; Shanker V; Mohrmann K; Arnold L; Tabbal S; deLeon D; Ford B; Brin M; Chouinard S; Ozelius L; Klein C; Bressman S B
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.
Molecular genetics and metabolism 2004;83(3):207-12.
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2004: O'Riordan S; Raymond D; Lynch T; Saunders-Pullman R; Bressman S B; Daly L; Hutchinson M
Age at onset as a factor in determining the phenotype of primary torsion dystonia.
Neurology 2004;63(8):1423-6.
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2004: Hedrich Katja; Eskelson Cordula; Wilmot Beth; Marder Karen; Harris Juliette; Garrels Jennifer; Meija-Santana Helen; Vieregge Peter; Jacobs Helfried; Bressman Susan B; Lang Anthony E; Kann Martin; Abbruzzese Giovanni; Martinelli Paolo; Schwinger Eberhard; Ozelius Laurie J; Pramstaller Peter P; Klein Christine; Kramer Patricia
Distribution, type, and origin of Parkin mutations: review and case studies.
Movement disorders : official journal of the Movement Disorder Society 2004;19(10):1146-57.
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2004: Heiman G A; Ottman R; Saunders-Pullman R J; Ozelius L J; Risch N J; Bressman S B
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.
Neurology 2004;63(4):631-7.
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2004: Carbon Maren; Kingsley Peter B; Su Sherwin; Smith Gwenn S; Spetsieris Phoebe; Bressman Susan; Eidelberg David
Microstructural white matter changes in carriers of the DYT1 gene mutation.
Annals of neurology 2004;56(2):283-6.
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2004: de Carvalho Aguiar Patricia; Sweadner Kathleen J; Penniston John T; Zaremba Jacek; Liu Liu; Caton Marsha; Linazasoro Gurutz; Borg Michel; Tijssen Marina A J; Bressman Susan B; Dobyns William B; Brashear Allison; Ozelius Laurie J
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Neuron 2004;43(2):169-75.
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2004: Carbon M; Su S; Dhawan V; Raymond D; Bressman S; Eidelberg D
Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.
Neurology 2004;62(8):1384-90.
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2004: Kabakci K; Hedrich K; Leung J C; Mitterer M; Vieregge P; Lencer R; Hagenah J; Garrels J; Witt K; Klostermann F; Svetel M; Friedman J; Kostic V; Bressman S B; Breakefield X O; Ozelius L J; Pramstaller P P; Klein C
Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Neurology 2004;62(3):395-400.
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2004: Hedrich K; Djarmati A; Schäfer N; Hering R; Wellenbrock C; Weiss P H; Hilker R; Vieregge P; Ozelius L J; Heutink P; Bonifati V; Schwinger E; Lang A E; Noth J; Bressman S B; Pramstaller P P; Riess O; Klein C
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Neurology 2004;62(3):389-94.
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2004: Hedrich Katja; Schäfer Nora; Hering Robert; Hagenah Johann; Lanthaler Andrea J; Schwinger Eberhard; Kramer Patricia L; Ozelius Laurie J; Bressman Susan B; Abbruzzese Giovanni; Martinelli Paolo; Kostic Vladimir; Pramstaller Peter P; Vieregge Peter; Riess Olaf; Klein Christine
The R98Q variation in DJ-1 represents a rare polymorphism.
Annals of neurology 2004;55(1):145; author reply 145-6.
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2004: Saunders-Pullman Rachel; Shriberg Janet; Shanker Vicki; Bressman Susan B
Penetrance and expression of dystonia genes.
Advances in neurology 2004;94():121-5.
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2004: Bressman Susan B
Dystonia genotypes, phenotypes, and classification.
Advances in neurology 2004;94():101-7.
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2003: Bressman S B
Dystonia: phenotypes and genotypes.
Revue neurologique 2003;159(10 Pt 1):849-56.
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2003: Simon David K; Friedman Jennifer; Breakefield Xandra O; Jankovic Joseph; Brin Mitchell F; Provias John; Bressman Susan B; Charness Michael E; Tarsy Daniel; Johns Donald R; Tarnopolsky Mark A
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.
Neurogenetics 2003;4(4):199-205.
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2003: Ghilardi Maria-Felice; Carbon Maren; Silvestri Giulia; Dhawan Vijay; Tagliati Michele; Bressman Susan; Ghez Claude; Eidelberg David
Impaired sequence learning in carriers of the DYT1 dystonia mutation.
Annals of neurology 2003;54(1):102-9.
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2003: Gasser Thomas; Bressman Susan; Dürr Alexandra; Higgins Joseph; Klockgether Thomas; Myers Richard H
State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.
Movement disorders : official journal of the Movement Disorder Society 2003;18(1):3-18.
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2002: Bressman S B; Raymond D; Wendt K; Saunders-Pullman R; De Leon D; Fahn S; Ozelius L; Risch N
Diagnostic criteria for dystonia in DYT1 families.
Neurology 2002;59(11):1780-2.
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2002: Trost Maja; Carbon Maren; Edwards Christine; Ma Yilong; Raymond Deborah; Mentis Marc J; Moeller James R; Bressman Susan B; Eidelberg David
Primary dystonia: is abnormal functional brain architecture linked to genotype?
Annals of neurology 2002;52(6):853-6.
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2002: Klein Christine; Liu Liu; Doheny Dana; Kock Norman; Müller Birgitt; de Carvalho Aguiar Patricia; Leung Joanne; de Leon Deborah; Bressman Susan B; Silverman Jeremy; Smith Christopher; Danisi Fabio; Morrison Chris; Walker Ruth H; Velickovic Miodrag; Schwinger Eberhard; Kramer Patricia L; Breakefield Xandra O; Brin Mitchell F; Ozelius Laurie J
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Annals of neurology 2002;52(5):675-9.
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2002: Doheny D; Danisi F; Smith C; Morrison C; Velickovic M; De Leon D; Bressman S B; Leung J; Ozelius L; Klein C; Breakefield X O; Brin M F; Silverman J M
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
Neurology 2002;59(8):1244-6.
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2002: Doheny D O; Brin M F; Morrison C E; Smith C J; Walker R H; Abbasi S; Müller B; Garrels J; Liu L; De Carvalho Aguiar P; Schilling K; Kramer P; De Leon D; Raymond D; Saunders-Pullman R; Klein C; Bressman S B; Schmand B; Tijssen M A J; Ozelius L J; Silverman J M
Phenotypic features of myoclonus-dystonia in three kindreds.
Neurology 2002;59(8):1187-96.
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2002: Hedrich K; Marder K; Harris J; Kann M; Lynch T; Meija-Santana H; Pramstaller P P; Schwinger E; Bressman S B; Fahn S; Klein C
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
Neurology 2002;58(8):1239-46.
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2002: Kann M; Hedrich K; Vieregge P; Jacobs H; Müller B; Kock N; Schwinger E; Klein C; Marder K; Harris J; Meija-Santana H; Bressman S; Ozelius L J; Lang A E; Pramstaller P P
The parkin gene is not involved in late-onset Parkinson's disease.
Neurology 2002;58(5):835; author reply 835.
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2002: Nass Ruth; Bressman Susan
Attention deficit hyperactivity disorder and Tourette syndrome: what's the best treatment?
Neurology 2002;58(4):513-4.
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2002: Saunders-Pullman R; Shriberg J; Heiman G; Raymond D; Wendt K; Kramer P; Schilling K; Kurlan R; Klein C; Ozelius L J; Risch N J; Bressman S B
Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.
Neurology 2002;58(2):242-5.
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2002: Saunders-Pullman Rachel; Ozelius Laurie; Bressman Susan B
Inherited myoclonus-dystonia.
Advances in neurology 2002;89():185-91.
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2001: Leung J C; Klein C; Friedman J; Vieregge P; Jacobs H; Doheny D; Kamm C; DeLeon D; Pramstaller P P; Penney J B; Eisengart M; Jankovic J; Gasser T; Bressman S B; Corey D P; Kramer P; Brin M F; Ozelius L J; Breakefield X O
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Neurogenetics 2001;3(3):133-43.
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2001: Bressman S B; Fahn S; Ozelius L J; Kramer P L; Risch N J
The DYT1 mutation and nonfamilial primary torsion dystonia.
Archives of neurology 2001;58(4):681-2.
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2000: Thyagarajan D; Bressman S; Bruno C; Przedborski S; Shanske S; Lynch T; Fahn S; DiMauro S
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.
Annals of neurology 2000;48(5):730-6.
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2000: Bressman S B
Dystonia update.
Clinical neuropharmacology 2000;23(5):239-51.
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2000: Greene P E; Bressman S B; Ford B; Hyland K
Parkinsonism, dystonia, and hemiatrophy.
Movement disorders : official journal of the Movement Disorder Society 2000;15(3):537-41.
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2000: Bressman S B; Sabatti C; Raymond D; de Leon D; Klein C; Kramer P L; Brin M F; Fahn S; Breakefield X; Ozelius L J; Risch N J
The DYT1 phenotype and guidelines for diagnostic testing.
Neurology 2000;54(9):1746-52.
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2000: Klein C; Gurvich N; Sena-Esteves M; Bressman S; Brin M F; Ebersole B J; Fink S; Forsgren L; Friedman J; Grimes D; Holmgren G; Kyllerman M; Lang A E; de Leon D; Leung J; Prioleau C; Raymond D; Sanner G; Saunders-Pullman R; Vieregge P; Wahlström J; Breakefield X O; Kramer P L; Ozelius L J; Sealfon S C
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.
Annals of neurology 2000;47(3):369-73.
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1999: Ozelius L J; Page C E; Klein C; Hewett J W; Mineta M; Leung J; Shalish C; Bressman S B; de Leon D; Brin M F; Fahn S; Corey D P; Breakefield X O
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Genomics 1999;62(3):377-84.
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1999: Nygaard T G; Raymond D; Chen C; Nishino I; Greene P E; Jennings D; Heiman G A; Klein C; Saunders-Pullman R J; Kramer P; Ozelius L J; Bressman S B
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Annals of neurology 1999;46(5):794-8.
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1999: Saunders-Pullman R; Braun I; Bressman S
Pediatric movement disorders.
Child and adolescent psychiatric clinics of North America 1999;8(4):747-65, viii.
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1999: Jarman P R; del Grosso N; Valente E M; Leube B; Cassetta E; Bentivoglio A R; Waddy H M; Uitti R J; Maraganore D M; Albanese A; Frontali M; Auburger G; Bressman S B; Wood N W; Nygaard T G
Primary torsion dystonia: the search for genes is not over.
Journal of neurology, neurosurgery, and psychiatry 1999;67(3):395-7.
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1999: Kramer P L; Mineta M; Klein C; Schilling K; de Leon D; Farlow M R; Breakefield X O; Bressman S B; Dobyns W B; Ozelius L J; Brashear A
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Annals of neurology 1999;46(2):176-82.
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1999: Saunders-Pullman R; Gordon-Elliott J; Parides M; Fahn S; Saunders H R; Bressman S
The effect of estrogen replacement on early Parkinson's disease.
Neurology 1999;52(7):1417-21.
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1999: Klein C; Brin M F; Kramer P; Sena-Esteves M; de Leon D; Doheny D; Bressman S; Fahn S; Breakefield X O; Ozelius L J
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(9):5173-6.
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1999: Klein C; Friedman J; Bressman S; Vieregge P; Brin M F; Pramstaller P P; De Leon D; Hagenah J; Sieberer M; Fleet C; Kiely R; Xin W; Breakefield X O; Ozelius L J; Sims K B
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Genetic testing 1999;3(4):323-8.
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1998: Eidelberg D; Moeller J R; Antonini A; Kazumata K; Nakamura T; Dhawan V; Spetsieris P; deLeon D; Bressman S B; Fahn S
Functional brain networks in DYT1 dystonia.
Annals of neurology 1998;44(3):303-12.
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1998: Bressman S B
Dystonia.
Current opinion in neurology 1998;11(4):363-72.
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1998: Klein C; Brin M F; de Leon D; Limborska S A; Ivanova-Smolenskaya I A; Bressman S B; Friedman A; Markova E D; Risch N J; Breakefield X O; Ozelius L J
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
Human molecular genetics 1998;7(7):1133-6.
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1998: Greene P E; Bressman S
Exteroceptive and interoceptive stimuli in dystonia.
Movement disorders : official journal of the Movement Disorder Society 1998;13(3):549-51.
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1998: Ford B; Greene P E; Louis E D; Bressman S B; Goodman R R; Brin M F; Sadiq S; Fahn S
Intrathecal baclofen in the treatment of dystonia.
Advances in neurology 1998;78():199-210.
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1998: Bressman S B; de Leon D; Raymond D; Greene P E; Brin M F; Fahn S; Ozelius L J; Breakefield X O; Kramer P L; Risch N J
The role of the DYT1 gene in secondary dystonia.
Advances in neurology 1998;78():107-15.
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1998: Ozelius L J; Hewett J W; Page C E; Bressman S B; Kramer P L; Shalish C; de Leon D; Brin M F; Raymond D; Jacoby D; Penney J; Risch N J; Fahn S; Gusella J F; Breakefield X O
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.
Advances in neurology 1998;78():93-105.
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1998: Bressman S B; de Leon D; Raymond D; Ozelius L J; Breakefield X O; Nygaard T G; Almasy L; Risch N J; Kramer P L
Clinical-genetic spectrum of primary dystonia.
Advances in neurology 1998;78():79-91.
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1998: Fahn S; Bressman S B; Marsden C D
Classification of dystonia.
Advances in neurology 1998;78():1-10.
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1997: Almasy L; Bressman S B; Raymond D; Kramer P L; Greene P E; Heiman G A; Ford B; Yount J; de Leon D; Chouinard S; Saunders-Pullman R; Brin M F; Kapoor R P; Jones A C; Shen H; Fahn S; Risch N J; Nygaard T G
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
Annals of neurology 1997;42(4):670-3.
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1997: Almasy L; Bressman S; de Leon D; Risch N
Ethnic variation in the clinical expression of idiopathic torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 1997;12(5):715-21.
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1997: Ozelius L J; Hewett J W; Page C E; Bressman S B; Kramer P L; Shalish C; de Leon D; Brin M F; Raymond D; Corey D P; Fahn S; Risch N J; Buckler A J; Gusella J F; Breakefield X O
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Nature genetics 1997;17(1):40-8.
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1997: Bressman S B; de Leon D; Raymond D; Greene P E; Brin M F; Fahn S; Ozelius L J; Breakefield X O; Kramer P L; Risch N J
Secondary dystonia and the DYTI gene.
Neurology 1997;48(6):1571-7.
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1997: Ozelius L J; Hewett J; Kramer P; Bressman S B; Shalish C; de Leon D; Rutter M; Risch N; Brin M F; Markova E D; Limborska S A; Ivanova-Smolenskaya I A; McCormick M K; Fahn S; Buckler A J; Gusella J F; Breakefield X O
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
Genome research 1997;7(5):483-94.
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1997: Brashear A; DeLeon D; Bressman S B; Thyagarajan D; Farlow M R; Dobyns W B
Rapid-onset dystonia-parkinsonism in a second family.
Neurology 1997;48(4):1066-9.
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1997: Petzinger G M; Bressman S B
A case of tetrabenazine-induced neuroleptic malignant syndrome after prolonged treatment.
Movement disorders : official journal of the Movement Disorder Society 1997;12(2):246-8.
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1996: Ford B; Greene P; Louis E D; Petzinger G; Bressman S B; Goodman R; Brin M F; Sadiq S; Fahn S
Use of intrathecal baclofen in the treatment of patients with dystonia.
Archives of neurology 1996;53(12):1241-6.
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1996: Bressman S B; Warner T T; Almasy L; Uitti R J; Greene P E; Heiman G A; Raymond D; Ford B; de Leon D; Fahn S; Kramer P L; Risch N J; Maraganore D M; Nygaard T G; Harding A E
Exclusion of the DYT1 locus in familial torticollis.
Annals of neurology 1996;40(4):681-4.
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1996: Louis E D; Lynch T; Ford B; Greene P; Bressman S B; Fahn S
Delayed-onset cerebellar syndrome.
Archives of neurology 1996;53(5):450-4.
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1995: Gordon M F; Bressman S; Brin M F; de Leon D; Warburton D; Yeboa K; Fahn S
Dystonia in a patient with deletion of 18q.
Movement disorders : official journal of the Movement Disorder Society 1995;10(4):496-9.
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1995: Risch N; de Leon D; Ozelius L; Kramer P; Almasy L; Singer B; Fahn S; Breakefield X; Bressman S
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
Nature genetics 1995;9(2):152-9.
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1994: Bressman S B; de Leon D; Kramer P L; Ozelius L J; Brin M F; Greene P E; Fahn S; Breakefield X O; Risch N J
Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.
Annals of neurology 1994;36(5):771-7.
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1994: Bressman S B; Hunt A L; Heiman G A; Brin M F; Burke R E; Fahn S; Trugman J M; de Leon D; Kramer P L; Wilhelmsen K C
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
Movement disorders : official journal of the Movement Disorder Society 1994;9(6):626-32.
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1994: Bressman S B; Heiman G A; Nygaard T G; Ozelius L J; Hunt A L; Brin M F; Gordon M F; Moskowitz C B; de Leon D; Burke R E
A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.
Neurology 1994;44(2):283-7.
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1992: Ozelius L J; Kramer P L; de Leon D; Risch N; Bressman S B; Schuback D E; Brin M F; Kwiatkowski D J; Burke R E; Gusella J F
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics 1992;50(3):619-28.
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1991: Kwiatkowski D J; Nygaard T G; Schuback D E; Perman S; Trugman J M; Bressman S B; Burke R E; Brin M F; Ozelius L; Breakefield X O
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
American journal of human genetics 1991;48(1):121-8.
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1990: Risch N J; Bressman S B; deLeon D; Brin M F; Burke R E; Greene P E; Shale H; Claus E B; Cupples L A; Fahn S
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.
American journal of human genetics 1990;46(3):533-8.
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1990: Kramer P L; de Leon D; Ozelius L; Risch N; Bressman S B; Brin M F; Schuback D E; Burke R E; Kwiatkowski D J; Shale H
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
Annals of neurology 1990;27(2):114-20.
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1990: Bressman S B; Greene P E
Treatment of hyperkinetic movement disorders.
Neurologic clinics 1990;8(1):51-75.
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1989: Bressman S B; de Leon D; Brin M F; Risch N; Burke R E; Greene P E; Shale H; Fahn S
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
Annals of neurology 1989;26(5):612-20.
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1989: Ozelius L; Kramer P L; Moskowitz C B; Kwiatkowski D J; Brin M F; Bressman S B; Schuback D E; Falk C T; Risch N; de Leon D
Human gene for torsion dystonia located on chromosome 9q32-q34.
Neuron 1989;2(5):1427-34.
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1988: Troung D D; Bressman S; Shale H; Fahn S
Clonazepam, haloperidol, and clonidine in tic disorders.
Southern medical journal 1988;81(9):1103-5.
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1988: Falk C T; Bressman S B; Allen F H; Moskowitz C; Fahn S; Brin M
Linkage studies in families with dystonia: linkage analysis as a tool to locate and characterize the gene(s) for dystonia.
Advances in neurology 1988;50():67-72.
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1988: Bressman S B; de Leon D; Brin M F; Risch N; Shale H; Burke R E; Greene P E; Fahn S
Inheritance of idiopathic torsion dystonia among Ashkenazi Jews.
Advances in neurology 1988;50():45-56.
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1988: Bressman S B; Fahn S; Burke R E
Paroxysmal non-kinesigenic dystonia.
Advances in neurology 1988;50():403-13.
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1986: Breakefield X O; Bressman S B; Kramer P L; Ozelius L; Moskowitz C; Tanzi R; Brin M F; Hobbs W; Kaufman D; Tobin A
Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.
Journal of neurogenetics 1986;3(3):159-75.
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1986: Bressman S; Fahn S; Eisenberg M; Brin M; Maltese W
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Advances in neurology 1986;43():119-25.
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1986: Burke R E; Brin M F; Fahn S; Bressman S B; Moskowitz C
Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 1986;1(3):163-78.
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1985: Burke R E; Fahn S; Marsden C D; Bressman S B; Moskowitz C; Friedman J
Validity and reliability of a rating scale for the primary torsion dystonias.
Neurology 1985;35(1):73-7.
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1984: Bressman S B; Fahn S; Falk C; Allen F H; Suciu-Foca N
Genetic linkage analysis in primary torsion dystonia.
Neurology 1984;34(11):1490-3.
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