Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic Compliance with McDonald criteria and red flag recognition in a general neurology practice in Ireland.

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Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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http://www.wikidata.org/entity/Q58923949

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im Oktober 2006 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 October 2006

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в жовтні 2006

@uk

name

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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type

Item

label

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

@en

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

@en

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

@nl

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Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

@en

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Gianmarco Contino

http://www.w3.org/2001/XMLSchema#string

Giuseppe Novelli

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Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

RTP family members induce functional expression of mammalian odorant receptors

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

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1849-1856

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scholarly article

editorial

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10.1517/14656566.7.14.1849

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English

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http://www.w3.org/2001/XMLSchema#string

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Giuseppe Novelli

Gianmarco Contino

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2006-10-01T00:00:00Z

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17020412

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Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

about

P2860

P2860

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698