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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy.
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- Movement Disorders, 2011, v. 26, n. 9, p. 1732, doi. 10.1002/mds.23735
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- Article
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1715, doi. 10.1002/mds.23248
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- Article
Pseudo-orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation.
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- Movement Disorders, 2009, v. 24, n. 1, p. 144, doi. 10.1002/mds.22349
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- Article
A large Italian family with Gilles de la Tourette syndrome: Clinical study and analysis of the SLITRK1 gene.
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- Movement Disorders, 2007, v. 22, n. 15, p. 2229, doi. 10.1002/mds.21697
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- Article
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
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- 2007
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- Publication type:
- journal article
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
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- Movement Disorders, 2006, v. 21, n. 3, p. 396, doi. 10.1002/mds.20708
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- Article
Clinical features and neuroimaging of PARK7-linked parkinsonism.
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- 2003
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- Publication type:
- journal article
CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study.
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- Movement Disorders, 2001, v. 16, n. 2, p. 290, doi. 10.1002/mds.1041
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- Article
Heritability of dietary food intake patterns.
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- Acta Diabetologica, 2013, v. 50, n. 5, p. 721, doi. 10.1007/s00592-012-0387-0
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- Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
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- Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
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- Article
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7
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- Article
Chasing genes in Alzheimer’s and Parkinson’s disease.
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- Human Genetics, 2004, v. 114, n. 5, p. 413, doi. 10.1007/s00439-004-1097-7
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- Article
Timing of the absence of FMR1 expression in full mutation chorionic villi.
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- Human Genetics, 2002, v. 110, n. 6, p. 601, doi. 10.1007/s00439-002-0723-5
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- Article
A fragile X case with an amplification/deletion mosaic pattern.
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- Human Genetics, 2000, v. 106, n. 3, p. 366, doi. 10.1007/s004390000256
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- Article
Association of HSP70 and its Co-Chaperones with Alzheimer's Disease.
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- Journal of Alzheimer's Disease, 2011, v. 25, n. 1, p. 93, doi. 10.3233/JAD-2011-101560
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- Article
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function.
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- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 51, doi. 10.3233/JAD-2009-1137
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- Article
Complement Factor H Polymorphism, Complement Activators, and Risk of Age-Related Macular Degeneration.
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- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 3, p. 301, doi. 10.1001/jama.296.3.301
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- Article
Fragile X Mental Retardation Protein Regulates New Neuron Differentiation in the Adult Olfactory Bulb.
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- Journal of Neuroscience, 2011, v. 31, n. 6, p. 2205, doi. 10.1523/JNEUROSCI.5514-10.2011
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- Publication type:
- Article
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.
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- 2003
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- Publication type:
- journal article
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.
- Published in:
- 2002
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- Publication type:
- journal article
A Polymorphism in the Gene for IGF-I.
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- Diabetes, 2001, v. 50, n. 3, p. 637, doi. 10.2337/diabetes.50.3.637
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- Article
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.
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- Journal of Neurochemistry, 2008, v. 107, n. 6, p. 1671, doi. 10.1111/j.1471-4159.2008.05747.x
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- Article
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
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- Neurogenetics, 2011, v. 12, n. 3, p. 203, doi. 10.1007/s10048-011-0288-3
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- Article
Novel ATP13A2 ( PARK9) homozygous mutation in a family with marked phenotype variability.
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- Neurogenetics, 2011, v. 12, n. 1, p. 33, doi. 10.1007/s10048-010-0259-0
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- Article
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
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- Neurogenetics, 2010, v. 11, n. 4, p. 417, doi. 10.1007/s10048-010-0244-7
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- Article
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
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- Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
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- Article
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population.
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- Neurogenetics, 2008, v. 9, n. 4, p. 271, doi. 10.1007/s10048-008-0140-6
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- Article
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer’s disease.
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- Neurogenetics, 2007, v. 8, n. 3, p. 189, doi. 10.1007/s10048-007-0089-x
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- Article
Genetic Linkage Is Excluded for the D<sub>2</sub>-Dopamine Receptor λHD2Gl and Flanking Loci on Chromosome 11q22-q23 in Tourette Syndrome.
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- Human Heredity, 1990, v. 40, n. 2, p. 105, doi. 10.1159/000153914
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- Article
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
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- Journal of Human Genetics, 2009, v. 54, n. 11, p. 676, doi. 10.1038/jhg.2009.96
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- Article
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age.
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- Human Molecular Genetics, 2014, v. 23, n. 5, p. 1320, doi. 10.1093/hmg/ddt522
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- Article
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
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- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4857, doi. 10.1093/hmg/ddt336
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- Article
Ectopic expression of CGG containing mRNA is neurotoxic in mammals.
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- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2443, doi. 10.1093/hmg/ddp182
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- Article
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.
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- Human Molecular Genetics, 2006, v. 15, n. 12, p. 1984, doi. 10.1093/hmg/ddl121
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- Article
Molecular dissection of the events leading to inactivation of the FMR1 gene.
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- Human Molecular Genetics, 2005, v. 14, n. 2, p. 267, doi. 10.1093/hmg/ddi024
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- Article
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
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- Human Molecular Genetics, 2004, v. 13, n. 13, p. 1291, doi. 10.1093/hmg/ddh150
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- Article
Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1163, doi. 10.1038/ejhg.2012.303
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- Article
FXTAS: A progressive neurologic syndrome associated with fragile X premutation.
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- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 5, p. 405, doi. 10.1007/s11910-005-0065-5
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- Article
SIRT1 Genetic Variation Is Related to BMI and Risk of Obesity.
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- Diabetes, 2009, v. 58, n. 12, p. 2828, doi. 10.2337/db09-0536
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- Publication type:
- Article
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
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- 2008
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- Publication type:
- journal article
Predicting Type 2 Diabetes Based on Polymorphisms From Genome-Wide Association Studies.
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- Diabetes, 2008, v. 57, n. 11, p. 3122, doi. 10.2337/db08-0425
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- Publication type:
- Article
LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition.
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- Diabetes, 2007, v. 56, n. 12, p. 3020, doi. 10.2337/db07-0338
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- Article
Effects of the Renin-Angiotensin System Genes and Salt Sensitivity Genes on Blood Pressure and Atherosclerosis in the Total Population and Patients With Type 2 Diabetes.
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- Diabetes, 2007, v. 56, n. 7, p. 1905, doi. 10.2337/db06-1127
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- Publication type:
- Article
The α-Adducin Gene Is Associated With Macrovascular Complications and Mortality in Patients With Type 2 Diabetes.
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- Diabetes, 2006, v. 55, n. 10, p. 2922, doi. 10.2337/db06-0302
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- Publication type:
- Article
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
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- Neurogenetics, 2007, v. 8, n. 2, p. 103, doi. 10.1007/s10048-006-0072-y
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- Publication type:
- Article
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan.
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- Neurogenetics, 2006, v. 7, n. 3, p. 133, doi. 10.1007/s10048-006-0041-5
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- Publication type:
- Article
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
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- Neurogenetics, 2006, v. 7, n. 1, p. 13, doi. 10.1007/s10048-005-0017-x
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- Publication type:
- Article
The role of body mass index, insulin, and adiponectin in the relation between fat distribution and bone mineral density.
- Published in:
- 2010
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- Publication type:
- journal article
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0144-4
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- Publication type:
- Article
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.
- Published in:
- Frontiers in Genetics, 2016, v. 7, p. 1, doi. 10.3389/fgene.2016.00190
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- Article