Found: 16
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Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 845, doi. 10.1002/mdc3.13725
- By:
- Publication type:
- Article
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
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- Publication type:
- Article
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
- Published in:
- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00239-0
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- Publication type:
- Article
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006379
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- Publication type:
- Article
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 251, doi. 10.1111/cge.13798
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- Publication type:
- Article
Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 2, p. 330, doi. 10.1002/ana.26544
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- Publication type:
- Article
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 2078, doi. 10.1007/s00415-024-12182-x
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- Publication type:
- Article
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 5, p. 1927, doi. 10.1007/s00415-020-10348-x
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- Publication type:
- Article
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 897, doi. 10.1002/mds.29752
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- Publication type:
- Article
Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B).
- Published in:
- Movement Disorders, 2023, v. 38, n. 10, p. 1950, doi. 10.1002/mds.29560
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- Publication type:
- Article
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.762047
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- Publication type:
- Article
The in vivo mitochondrial two-step maturation of human frataxin.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 22, p. 3521, doi. 10.1093/hmg/ddn244
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- Publication type:
- Article
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
- Published in:
- 2021
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- Publication type:
- Case Study