Found: 14
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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 582, doi. 10.1002/mdc3.14023
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- Publication type:
- Article
NOTCH2NLC GGC Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 704, doi. 10.1002/mdc3.13677
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- Publication type:
- Article
Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 240, doi. 10.1002/mdc3.13384
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- Publication type:
- Article
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04337-x
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- Article
Toll-Like Receptor-4 Inhibitor TAK-242 Attenuates Motor Dysfunction and Spinal Cord Pathology in an Amyotrophic Lateral Sclerosis Mouse Model.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1666, doi. 10.3390/ijms18081666
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- Publication type:
- Article
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
- Published in:
- Cerebellum, 2024, v. 23, n. 1, p. 268, doi. 10.1007/s12311-023-01522-8
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- Publication type:
- Article
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1923
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- Publication type:
- Article
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 901, doi. 10.1002/ajmg.a.62026
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- Publication type:
- Article
Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 713, doi. 10.1111/cge.13929
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- Article
Ordering genetic testing by neurologists: points to consider.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3714, doi. 10.1007/s00415-023-11758-3
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- Publication type:
- Article
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 4, p. 1174, doi. 10.1111/ene.15218
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- Publication type:
- Article
Harnessing Transcriptomics to Decipher Dystonia Pathogenesis.
- Published in:
- 2022
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- Publication type:
- journal article
Neurologic complications of immune checkpoint inhibitors.
- Published in:
- Journal of Neuro-Oncology, 2018, v. 137, n. 3, p. 601, doi. 10.1007/s11060-018-2752-5
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- Publication type:
- Article
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 471, doi. 10.3390/genes13030471
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- Publication type:
- Article