Works matching IS 13646745 AND DT 2021 AND VI 22 AND IP 1
Results: 12
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
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- Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y
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- Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
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- Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
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- Article
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
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- Neurogenetics, 2021, v. 22, n. 1, p. 33, doi. 10.1007/s10048-020-00632-3
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- Article
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
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- Neurogenetics, 2021, v. 22, n. 1, p. 95, doi. 10.1007/s10048-020-00631-4
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Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
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- Neurogenetics, 2021, v. 22, n. 1, p. 53, doi. 10.1007/s10048-020-00630-5
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- Article
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
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- Neurogenetics, 2021, v. 22, n. 1, p. 65, doi. 10.1007/s10048-021-00634-9
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- Article
Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
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- Neurogenetics, 2021, v. 22, n. 1, p. 27, doi. 10.1007/s10048-020-00628-z
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- Article
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
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- Neurogenetics, 2021, v. 22, n. 1, p. 11, doi. 10.1007/s10048-020-00626-1
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- Article
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.
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- Neurogenetics, 2021, v. 22, n. 1, p. 81, doi. 10.1007/s10048-020-00624-3
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- Article
Distal myopathy due to TCAP variants in four unrelated Chinese patients.
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- Neurogenetics, 2021, v. 22, n. 1, p. 1, doi. 10.1007/s10048-020-00623-4
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- Article
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
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- Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5
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- Article
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
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- Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2
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- Article