Bressman S - Search Results

1

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.

Lencz T, Yu J, Khan RR, Flaherty E, Carmi S, Lam M, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüş ZH, Vijai J, Klein RJ, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Malhotra AK, Maniatis T, Atzmon G, Pe'er I. Lencz T, et al. Among authors: bressman s. Neuron. 2021 May 5;109(9):1465-1478.e4. doi: 10.1016/j.neuron.2021.03.004. Epub 2021 Mar 22. Neuron. 2021. PMID: 33756103 Free PMC article.

2

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.

Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S. Risch N, et al. Among authors: bressman s. Nat Genet. 1995 Feb;9(2):152-9. doi: 10.1038/ng0295-152. Nat Genet. 1995. PMID: 7719342

3

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Klein C, et al. Among authors: bressman s. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5173-6. doi: 10.1073/pnas.96.9.5173. Proc Natl Acad Sci U S A. 1999. PMID: 10220438 Free PMC article.

4

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.

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: bressman s. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938

5

Inherited myoclonus-dystonia.

Saunders-Pullman R, Ozelius L, Bressman SB. Saunders-Pullman R, et al. Adv Neurol. 2002;89:185-91. Adv Neurol. 2002. PMID: 11968443 Review. No abstract available.

6

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. de Carvalho Aguiar P, et al. Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028. Neuron. 2004. PMID: 15260953 Free article.

7

Distribution, type, and origin of Parkin mutations: review and case studies.

Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Hedrich K, et al. Mov Disord. 2004 Oct;19(10):1146-57. doi: 10.1002/mds.20234. Mov Disord. 2004. PMID: 15390068 Review.

8

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia.

Saunders-Pullman R, Lipton RB, Senthil G, Katz M, Costan-Toth C, Derby C, Bressman S, Verghese J, Ozelius LJ. Saunders-Pullman R, et al. Among authors: bressman s. Neurosci Lett. 2006 Jul 10;402(1-2):92-6. doi: 10.1016/j.neulet.2006.03.044. Epub 2006 Apr 24. Neurosci Lett. 2006. PMID: 16632201

9

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.

Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB. Heiman GA, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):361-4. doi: 10.1002/ajmg.b.30431. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17066475 Free PMC article.

10

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Risch NJ, et al. Am J Hum Genet. 2007 Jun;80(6):1188-93. doi: 10.1086/518427. Epub 2007 Apr 27. Am J Hum Genet. 2007. PMID: 17503336 Free PMC article.

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