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PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease.
- Published in:
- 2017
- By:
- Publication type:
- letter
TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.
- Published in:
- 2017
- By:
- Publication type:
- case study
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
- Published in:
- 2016
- By:
- Publication type:
- case study
Genetics of movement disorders in the next-generation sequencing era.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes.
- Published in:
- Movement Disorders, 2015, v. 30, n. 7, p. 996, doi. 10.1002/mds.26202
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- Publication type:
- Article
Primary familial brain calcification: Genetic analysis and clinical spectrum.
- Published in:
- Movement Disorders, 2014, v. 29, n. 13, p. 1691, doi. 10.1002/mds.26053
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- Publication type:
- Article
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
- Published in:
- Movement Disorders, 2013, v. 28, n. 5, p. 685, doi. 10.1002/mds.25390
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- Publication type:
- Article
The genetics of Parkinson's disease: Progress and therapeutic implications.
- Published in:
- Movement Disorders, 2013, v. 28, n. 1, p. 14, doi. 10.1002/mds.25249
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- Publication type:
- Article
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1732, doi. 10.1002/mds.23735
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- Publication type:
- Article
ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation.
- Published in:
- Movement Disorders, 2011, v. 26, n. 7, p. 1364, doi. 10.1002/mds.23514
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- Publication type:
- Article
Olfactory heterogeneity in LRRK2 related Parkinsonism.
- Published in:
- Movement Disorders, 2010, v. 25, n. 16, p. 2879, doi. 10.1002/mds.23325
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- Publication type:
- Article
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
- Published in:
- Movement Disorders, 2010, v. 25, n. 11, p. 1715, doi. 10.1002/mds.23248
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- Publication type:
- Article
Pallidopyramidal disease: A misnomer?
- Published in:
- Movement Disorders, 2010, v. 25, n. 9, p. 1109, doi. 10.1002/mds.23118
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- Publication type:
- Article
Pseudo-orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation.
- Published in:
- Movement Disorders, 2009, v. 24, n. 1, p. 144, doi. 10.1002/mds.22349
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- Publication type:
- 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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- Publication type:
- Article
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.
- Published in:
- Movement Disorders, 2006, v. 21, n. 8, p. 1144, doi. 10.1002/mds.20909
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- Publication type:
- Article
Case-control study of multiple system atrophy.
- Published in:
- Movement Disorders, 2005, v. 20, n. 2, p. 158, doi. 10.1002/mds.20303
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- Publication type:
- Article
Does parkin play a role in the peripheral nervous system? A family report.
- Published in:
- Movement Disorders, 2004, v. 19, n. 8, p. 978, doi. 10.1002/mds.20113
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- Publication type:
- Article
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2003, v. 18, n. 11, p. 1240, doi. 10.1002/mds.10534
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- Publication type:
- Article
Clinical features and neuroimaging of PARK7-linked parkinsonism.
- Published in:
- 2003
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- Publication type:
- journal article
Familial influence on parkinsonism in a rural area of Turkey (Kızılcaboluk-Denizli): A community-based case-control study.
- Published in:
- Movement Disorders, 2003, v. 18, n. 7, p. 799, doi. 10.1002/mds.10440
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- Publication type:
- Article
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7
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- Publication type:
- Article
Correcting Differential Gene Expression Analysis for Cyto—Architectural Alterations in Substantia Nigra of Parkinson's Disease Patients Reveals Known and Potential Novel Disease—Associated Genes and Pathways.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 2, p. 198, doi. 10.3390/cells11020198
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- Publication type:
- Article
Parkinson's disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 6, p. N.PAG, doi. 10.1038/s41419-019-1679-x
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- Publication type:
- Article
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-018-0410-7
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- Publication type:
- Article
Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 183, doi. 10.1007/s10048-014-0406-0
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- Publication type:
- Article
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
- Published in:
- Neurogenetics, 2011, v. 12, n. 4, p. 263, doi. 10.1007/s10048-011-0302-9
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- Publication type:
- Article
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 203, doi. 10.1007/s10048-011-0288-3
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- Publication type:
- Article
Novel ATP13A2 ( PARK9) homozygous mutation in a family with marked phenotype variability.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 33, doi. 10.1007/s10048-010-0259-0
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- Publication type:
- Article
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
- Published in:
- Neurogenetics, 2010, v. 11, n. 4, p. 417, doi. 10.1007/s10048-010-0244-7
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- Publication type:
- Article
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population.
- Published in:
- Neurogenetics, 2008, v. 9, n. 4, p. 271, doi. 10.1007/s10048-008-0140-6
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- Publication type:
- Article
Worsening of Parkinsonism with Fluvoxamine--Two Cases.
- Published in:
- Human Psychopharmacology: Clinical & Experimental, 1994, v. 9, n. 6, p. 439, doi. 10.1002/hup.470090607
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- Publication type:
- Article
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2807, doi. 10.1093/hmg/ddg304
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- Publication type:
- Article
Is GIGYF2 the defective gene at the PARK11 locus?
- Published in:
- Current Neurology & Neuroscience Reports, 2009, v. 9, n. 3, p. 185, doi. 10.1007/s11910-009-0028-3
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- Publication type:
- Article
Recent advances in the genetics of dementia with Lewy bodies.
- Published in:
- Current Neurology & Neuroscience Reports, 2008, v. 8, n. 3, p. 187, doi. 10.1007/s11910-008-0030-1
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- Publication type:
- Article
Common neurodegenerative diseases: Dissection by genome-wide association.
- Published in:
- Current Neurology & Neuroscience Reports, 2007, v. 7, n. 5, p. 425, doi. 10.1007/s11910-007-0065-8
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- Publication type:
- Article
The pleomorphic pathology of inherited parkinson’s disease: Lessons from LRRK2.
- Published in:
- Current Neurology & Neuroscience Reports, 2006, v. 6, n. 5, p. 355, doi. 10.1007/s11910-996-0013-z
- By:
- Publication type:
- Article
Progress in the genetics of progressive supranuclear palsy: Tau gene and beyond.
- Published in:
- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 6, p. 419, doi. 10.1007/s11910-005-0027-y
- By:
- Publication type:
- Article
Reply.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 103, doi. 10.1007/s10048-006-0072-y
- By:
- Publication type:
- Article
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 133, doi. 10.1007/s10048-006-0041-5
- By:
- Publication type:
- Article
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
- Published in:
- Neurogenetics, 2006, v. 7, n. 1, p. 13, doi. 10.1007/s10048-005-0017-x
- By:
- Publication type:
- Article
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 2, p. 1344, doi. 10.1007/s12035-018-1090-0
- By:
- Publication type:
- Article
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 1, p. 117, doi. 10.1007/s00401-021-02313-3
- By:
- Publication type:
- Article
Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 886, doi. 10.1002/mdc3.13516
- By:
- Publication type:
- Article