Found: 19
Select item for more details and to access through your institution.
The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2011, v. 26, n. 13, p. 2441, doi. 10.1002/mds.23889
- By:
- Publication type:
- Article
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
- Published in:
- Movement Disorders, 2010, v. 25, n. 11, p. 1577, doi. 10.1002/mds.22857
- By:
- Publication type:
- Article
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
- Published in:
- Movement Disorders, 2009, v. 24, n. 14, p. 2104, doi. 10.1002/mds.22728
- By:
- Publication type:
- Article
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2009, v. 24, n. 3, p. 429, doi. 10.1002/mds.22399
- By:
- Publication type:
- Article
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
- Published in:
- Movement Disorders, 2007, v. 22, n. 14, p. 2090, doi. 10.1002/mds.21674
- By:
- Publication type:
- Article
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
- Published in:
- Movement Disorders, 2007, v. 22, n. 12, p. 1708, doi. 10.1002/mds.21370
- By:
- Publication type:
- Article
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
- Published in:
- Movement Disorders, 2007, v. 22, n. 1, p. 145, doi. 10.1002/mds.21059
- By:
- Publication type:
- Article
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation.
- Published in:
- Movement Disorders, 2006, v. 21, n. 11, p. 2010, doi. 10.1002/mds.21095
- By:
- Publication type:
- Article
Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
- Published in:
- 2006
- By:
- Publication type:
- journal article
Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients.
- Published in:
- Movement Disorders, 2006, v. 21, n. 6, p. 875, doi. 10.1002/mds.20854
- By:
- Publication type:
- Article
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
- Published in:
- Movement Disorders, 2006, v. 21, n. 2, p. 258, doi. 10.1002/mds.20690
- By:
- Publication type:
- Article
The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 1, p. 141, doi. 10.1093/hmg/ddq452
- By:
- Publication type:
- Article
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1086, doi. 10.1038/sj.ejhg.5201455
- By:
- Publication type:
- Article
SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.
- Published in:
- European Journal of Neurology, 2003, v. 10, n. 5, p. 597, doi. 10.1046/j.1468-1331.2003.00671.x
- By:
- Publication type:
- Article
MECP2 mutations in Serbian Rett syndrome patients.
- Published in:
- Acta Neurologica Scandinavica, 2007, v. 116, n. 6, p. 413, doi. 10.1111/j.1600-0404.2007.00893.x
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 17 in the Yugoslav population.
- Published in:
- Acta Neurologica Scandinavica, 2004, v. 109, n. 3, p. 185, doi. 10.1034/j.1600-0404.2003.00196.x
- By:
- Publication type:
- Article
High antioxidant activity of extracts obtained from sage by supercritical co extraction.
- Published in:
- Journal of the American Oil Chemists' Society (JAOCS), 1991, v. 68, n. 10, p. 731, doi. 10.1007/BF02662161
- By:
- Publication type:
- Article
Myoclonus-dystonia: significance of large SGCE deletions.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9521
- By:
- Publication type:
- Article
Detection of Parkin ( PARK2) and DJ1 ( PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 525, doi. 10.1002/humu.9240
- By:
- Publication type:
- Article