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Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1862, doi. 10.1002/acn3.51169
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- Article
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.
- Published in:
- National Science Review, 2020, v. 7, n. 1, p. 92, doi. 10.1093/nsr/nwz131
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- Article
Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.570227
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- Article
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
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- 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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- Article
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
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
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- Journal of Molecular Neuroscience, 2018, v. 65, n. 2, p. 196, doi. 10.1007/s12031-018-1079-1
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- Article
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
- Published in:
- Human Mutation, 2019, v. 40, n. 4, p. 392, doi. 10.1002/humu.23703
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- Article