[Ataxias and hereditary spastic paraplegias].

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[Genetics of tremor].

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[Ataxias and hereditary spastic paraplegias].

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

[Ataxias and hereditary spastic paraplegias].

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[Ataxias and hereditary spastic paraplegias].

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[Ataxias and hereditary spastic paraplegias].

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[Ataxias and hereditary spastic paraplegias].

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Ataxien und hereditäre spastische Spinalparalysen

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[Ataxias and hereditary spastic paraplegias].

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[Ataxias and hereditary spastic paraplegias].

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[Ataxias and hereditary spastic paraplegias].

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R Schüle

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Clinical and genetic abnormalities in patients with Friedreich's ataxia

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

Sporadic ataxia with adult onset: classification and diagnostic criteria.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

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Af-Jarmal

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[Ataxias and hereditary spastic paraplegias].

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