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Article

SPG7 mutations are a common cause of undiagnosed ataxia.

Neurology - 17 Mar 2015

Pfeffer Gerald, Pyle Angela, Griffin Helen, Miller Jack, Wilson Valerie, Turnbull Lisa, Fawcett Katherine, Sims David, Eglon Gail, Hadjivassiliou Marios, Horvath Rita, Németh Andrea, Chinnery Patrick F

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25681447
DOI: 10.1212/WNL.0000000000001369
PMCID: PMC4371411

Genes

SPG7

Provenance

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Related research

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SPG7 mutations are a common cause of undiagnosed ataxia.PMID 25681447Read ↗

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Semantic proximity Read ↗

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegiaSemantic proximity Read ↗

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.Semantic proximity Read ↗

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.Semantic proximity Read ↗

Genetic ataxias: update on classification and diagnostic approaches.Semantic proximity Read ↗

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.Semantic proximity Read ↗

Ataxia with vitamin E deficiency: update of molecular diagnosisSemantic proximity Read ↗

NGS in Hereditary Ataxia: When Rare Becomes Frequent.Semantic proximity Read ↗

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportSemantic proximity Read ↗

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3ASemantic proximity Read ↗

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Semantic proximity Read ↗

Inherited ataxias.Semantic proximity Read ↗

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