Found: 12
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Mutations in CIZ1 are not a major cause for dystonia in Germany.
- Published in:
- Movement Disorders, 2015, v. 30, n. 5, p. 740, doi. 10.1002/mds.26198
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- Publication type:
- Article
Screening of mutations in GNAL in sporadic dystonia patients.
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- Movement Disorders, 2014, v. 29, n. 9, p. 1193, doi. 10.1002/mds.25794
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- Publication type:
- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
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- Publication type:
- Article
Next-generation sequencing in X-linked intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
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- Publication type:
- Article
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
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- Journal of Neurology, 2024, v. 271, n. 5, p. 2886, doi. 10.1007/s00415-024-12229-z
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- Publication type:
- Article
Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.
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- Journal of Neurology, 2023, v. 270, n. 8, p. 4112, doi. 10.1007/s00415-023-11745-8
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- Article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
- Published in:
- 2013
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- Publication type:
- journal article
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49196-y
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- Publication type:
- Article
Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178503
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- Publication type:
- Article
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia.
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- Movement Disorders, 2023, v. 38, n. 4, p. 654, doi. 10.1002/mds.29324
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- Publication type:
- Article
A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
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- Movement Disorders, 2021, v. 36, n. 3, p. 729, doi. 10.1002/mds.28385
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- Publication type:
- Article
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 2156, doi. 10.1111/ene.15310
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- Publication type:
- Article