Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

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Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

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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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name

Disease-Causing Variants in th ...... raplegia among Czech Patients.

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Disease-Causing Variants in th ...... raplegia among Czech Patients.

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Item

label

Disease-Causing Variants in th ...... raplegia among Czech Patients.

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Disease-Causing Variants in th ...... raplegia among Czech Patients.

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Disease-Causing Variants in th ...... raplegia among Czech Patients.

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Disease-Causing Variants in th ...... raplegia among Czech Patients.

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P1476

Disease-Causing Variants in th ...... araplegia among Czech Patients

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P2093

Dagmar Grečmalová

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Dagmar Vávrová

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David Staněk

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Irena Smetanová

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Marie Čermáková

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Michaela Brázdilová

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Nina Dvořáčková

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Pavel Seeman

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Zdeněk Kalina

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P2860

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

A class of dynamin-like GTPases involved in the generation of the tubular ER network

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia

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

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

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249-257

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scholarly article

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10.1111/AHG.12206

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English

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P478

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Anna Uhrová Mészárosová

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2017-07-23T00:00:00Z

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28736820

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