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Identification of SLC20A2 deletions in patients with primary familial brain calcification.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 53, doi. 10.1111/cge.13540
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- Article
Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 2, p. 244, doi. 10.1002/ana.26501
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- Article
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
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- Annals of Neurology, 2022, v. 92, n. 3, p. 512, doi. 10.1002/ana.26436
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- Article
Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant.
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- Movement Disorders, 2024, v. 39, n. 10, p. 1894, doi. 10.1002/mds.29913
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- Article
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
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- Movement Disorders, 2024, v. 39, n. 1, p. 152, doi. 10.1002/mds.29664
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- Article
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene.
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- Movement Disorders, 2022, v. 37, n. 3, p. 641, doi. 10.1002/mds.28904
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- Article
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
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- Acta Neuropathologica, 2022, v. 143, n. 6, p. 733, doi. 10.1007/s00401-022-02422-7
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- Article
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732389
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- Article
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732389
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- Publication type:
- Article
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
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- Cell Discovery, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41421-022-00475-2
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- Article
Knockdown of myorg leads to brain calcification in zebrafish.
- Published in:
- Molecular Brain, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13041-022-00953-4
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- Article