Early-onset optic neuropathy as initial clinical presentation in SPG7.

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Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

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Early-onset optic neuropathy as initial clinical presentation in SPG7.

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http://www.wikidata.org/entity/Q48654711

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2014 nî lūn-bûn

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2014年学术文章

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name

Early-onset optic neuropathy as initial clinical presentation in SPG7.

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Early-onset optic neuropathy as initial clinical presentation in SPG7.

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Item

label

Early-onset optic neuropathy as initial clinical presentation in SPG7.

@en

Early-onset optic neuropathy as initial clinical presentation in SPG7.

@nl

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Early-onset optic neuropathy as initial clinical presentation in SPG7.

@en

Early-onset optic neuropathy as initial clinical presentation in SPG7.

@nl

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Early-onset optic neuropathy as initial clinical presentation in SPG7.

@en

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Alberto Pierallini

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Anna Maria De Negris

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Carlo Casali

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Christian Marcotulli

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Francesco Pierelli

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Luca Leonardi

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Shalom Haggiag

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P2860

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

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

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s00415-014-7432-6

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1820-1821

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scholarly article

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10.1007/S00415-014-7432-6

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261

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Filippo M Santorelli

Riccardo Cornia

Alessandra Tessa

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2014-07-18T00:00:00Z

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25034272

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Early-onset optic neuropathy as initial clinical presentation in SPG7.

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P2860

P2860

Early-onset optic neuropathy as initial clinical presentation in SPG7.

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P1433

P1476

P2093

P2860

P2888

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P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698