Found: 36
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ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.
- Published in:
- 2018
- By:
- Publication type:
- Letter
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
- Published in:
- 2006
- By:
- Publication type:
- journal article
CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.
- Published in:
- 2020
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- Publication type:
- journal article
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 637, doi. 10.1038/jhg.2015.69
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- Publication type:
- Article
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 3, p. 448, doi. 10.1002/mus.24263
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- Publication type:
- Article
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation.
- Published in:
- Neurodegenerative Diseases, 2007, v. 4, n. 5, p. 386, doi. 10.1159/000105160
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- Publication type:
- Article
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
- Published in:
- Human Genetics, 2013, v. 132, n. 3, p. 275, doi. 10.1007/s00439-012-1248-1
- By:
- Publication type:
- Article
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
- Published in:
- Human Genetics, 2012, v. 131, n. 3, p. 435, doi. 10.1007/s00439-011-1086-6
- By:
- Publication type:
- Article
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0022-7
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- Publication type:
- Article
Genetic variability at the PARK16 locus.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125
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- Publication type:
- Article
Parkinson's Disease and Low Frequency Alleles Found Together Throughout LRRK2.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 4, p. 391, doi. 10.1111/j.1469-1809.2009.00524.x
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- Publication type:
- Article
SORT1 Mutation Resulting in Sortilin Deficiency and p75<sup>NTR</sup> Upregulation in a Family With Essential Tremor.
- Published in:
- ASN Neuro (Sage Publications, Ltd.), 2015, v. 7, n. 4, p. 1, doi. 10.1177/1759091415598290
- By:
- Publication type:
- Article
ALS Identified: two‐year findings from a sponsored ALS genetic testing program.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 8, p. 2201, doi. 10.1002/acn3.52140
- By:
- Publication type:
- Article
Mutations in γ adducin are associated with inherited cerebral palsy.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mutations in gamma adducin are associated with inherited cerebral palsy.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 6, p. 805, doi. 10.1002/ana.23971
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- Publication type:
- Article
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
- Published in:
- Annals of Neurology, 2010, v. 68, n. 5, p. 611, doi. 10.1002/ana.22122
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- Publication type:
- Article
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 453
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- Publication type:
- Article
Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Molecular characterization of PRKN structural variations identified through whole‐genome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1243, doi. 10.1002/mgg3.482
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- Publication type:
- Article
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7111, doi. 10.1093/hmg/ddv410
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- Publication type:
- Article
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1180, doi. 10.1002/humu.23055
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- Publication type:
- Article
Cover Image, Volume 37, Issue 11.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. i, doi. 10.1002/humu.23133
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- Publication type:
- Article
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1200, doi. 10.1002/humu.22372
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- Publication type:
- Article
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241
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- Publication type:
- Article
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. E1251, doi. 10.1002/humu.21205
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- Publication type:
- Article
LRRK2 gene variation and its contribution to Parkinson disease.
- Published in:
- 2009
- By:
- Publication type:
- Other
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 485, doi. 10.1002/humu.20668
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- Publication type:
- Article
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
- Published in:
- Journal of Molecular Medicine, 2013, v. 91, n. 12, p. 1399, doi. 10.1007/s00109-013-1075-4
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- Publication type:
- Article
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3969, doi. 10.1093/hmg/ddp338
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- Publication type:
- Article
Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 8, p. 6734, doi. 10.1007/s12035-017-0846-2
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- Publication type:
- Article
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
- Published in:
- Movement Disorders, 2012, v. 27, n. 3, p. 393, doi. 10.1002/mds.24045
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- Publication type:
- Article
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
- Published in:
- Movement Disorders, 2010, v. 25, n. 12, p. 1791, doi. 10.1002/mds.23221
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- Publication type:
- Article
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
- Published in:
- Movement Disorders, 2009, v. 24, n. 16, p. 2428, doi. 10.1002/mds.22849
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- Publication type:
- Article
Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.
- Published in:
- Movement Disorders, 2008, v. 23, n. 4, p. 518, doi. 10.1002/mds.21771
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- Publication type:
- Article