Found: 156
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Rediscovery of repeat expansions: Solving the unsolved cases.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Utility and implications of exome sequencing in early-onset Parkinson's disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.
- Published in:
- 2018
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- Publication type:
- journal article
Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar.
- Published in:
- 2018
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- Publication type:
- journal article
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
- Published in:
- 2017
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- Publication type:
- case study
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
- Published in:
- 2017
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- Publication type:
- interview
PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology.
- Published in:
- 2016
- By:
- Publication type:
- letter
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- letter
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
- Published in:
- 2016
- By:
- Publication type:
- letter
Launching the movement disorders society genetic mutation database (MDSGene).
- Published in:
- 2016
- By:
- Publication type:
- editorial
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
- By:
- Publication type:
- commentary
REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations.
- Published in:
- Movement Disorders, 2015, v. 30, n. 4, p. 597, doi. 10.1002/mds.26193
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- Publication type:
- Article
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
- Published in:
- Movement Disorders, 2014, v. 29, n. 9, p. 1190, doi. 10.1002/mds.25876
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- Publication type:
- Article
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
- Published in:
- Movement Disorders, 2014, v. 29, n. 7, p. 921, doi. 10.1002/mds.25791
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- Publication type:
- Article
Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?
- Published in:
- Movement Disorders, 2014, v. 29, p. 921, doi. 10.1002/mds.25791
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- Publication type:
- Article
Genetics of dystonia: What's known? What's new? What's next?
- Published in:
- Movement Disorders, 2013, v. 28, n. 7, p. 899, doi. 10.1002/mds.25536
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- Publication type:
- Article
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
- Published in:
- Movement Disorders, 2013, v. 28, n. 5, p. 675, doi. 10.1002/mds.25369
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- Publication type:
- Article
Exome sequencing in a family with restless legs syndrome.
- Published in:
- Movement Disorders, 2012, v. 27, n. 13, p. 1686, doi. 10.1002/mds.25191
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- Publication type:
- Article
Familial idiopathic basal ganglia calcification: Unraveling the first genetic cause.
- Published in:
- Movement Disorders, 2012, v. 27, n. 8, p. 963, doi. 10.1002/mds.25110
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- Publication type:
- Article
Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 6, p. 754, doi. 10.1002/mds.24999
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- Publication type:
- Article
Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal.
- Published in:
- Movement Disorders, 2011, v. 26, n. 13, p. 2404, doi. 10.1002/mds.23866
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- Publication type:
- Article
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
- Published in:
- Movement Disorders, 2011, v. 26, n. 12, p. 2279, doi. 10.1002/mds.23860
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- Publication type:
- Article
No evidence for THAP1/ DYT6 variants as disease modifiers in DYT1 dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2136, doi. 10.1002/mds.23777
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- Publication type:
- Article
Truncating mutations in THAP1 define the nuclear localization signal.
- Published in:
- Movement Disorders, 2011, v. 26, n. 8, p. 1565, doi. 10.1002/mds.23611
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- Publication type:
- Article
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 5, p. 858, doi. 10.1002/mds.23561
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- Publication type:
- Article
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.
- Published in:
- Movement Disorders, 2010, v. 25, n. 15, p. 2665, doi. 10.1002/mds.23272
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- Publication type:
- Article
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
- Published in:
- Movement Disorders, 2010, v. 25, n. 14, p. 2405, doi. 10.1002/mds.23279
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- 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
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- Publication type:
- Article
Clinical and demographic characteristics of PINK1 mutation carriers-A meta-analysis.
- Published in:
- Movement Disorders, 2010, v. 25, n. 7, p. 952, doi. 10.1002/mds.23031
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- 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
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- 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
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- Publication type:
- Article
Childhood-onset restless legs syndrome: Clinical and genetic features of 22 families.
- Published in:
- Movement Disorders, 2008, v. 23, n. 8, p. 1113, doi. 10.1002/mds.22016
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- 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
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- Publication type:
- Article
Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 341, doi. 10.3233/JND-200598
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- Publication type:
- Article
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 141, doi. 10.1007/s10048-024-00752-0
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- Publication type:
- Article
The many faces of TUBB4A mutations.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3124, doi. 10.1093/hmg/ddq215
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- Publication type:
- Article
Emotionale Ansteckung & Self-Service-Technologies.
- Published in:
- Marketing Review St. Gallen, 2018, n. 1, p. 20
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- Publication type:
- Article
The Promise and Limitations of Genome-wide Association Studies.
- Published in:
- 2012
- By:
- Publication type:
- Opinion
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1334, doi. 10.1038/ejhg.2014.292
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- Publication type:
- Article
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 2, p. 131, doi. 10.1515/medgen-2022-2126
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- Publication type:
- Article
Update on the Genetics of Dystonia.
- Published in:
- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 3, p. 1, doi. 10.1007/s11910-017-0735-0
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- Publication type:
- Article
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Integrity and Collaboration in Dynamic Sensor Networks.
- Published in:
- Sensors (14248220), 2018, v. 18, n. 7, p. 2400, doi. 10.3390/s18072400
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- Publication type:
- Article
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 6, p. 1173, doi. 10.1002/ana.26917
- By:
- Publication type:
- Article
Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 625, doi. 10.1002/ana.25990
- By:
- Publication type:
- Article
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 1, p. 158, doi. 10.1002/ana.25942
- By:
- Publication type:
- Article
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
- Published in:
- 2019
- By:
- Publication type:
- journal article