Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

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Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey.Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.

P2860

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Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

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http://www.wikidata.org/entity/Q27312543

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2015 nî lūn-bûn

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2015 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2015 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

@ast

Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

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RecessiveREEP1mutation is asso ...... opathy and diaphragmatic palsy

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type

Item

label

Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

@ast

Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

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RecessiveREEP1mutation is asso ...... opathy and diaphragmatic palsy

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prefLabel

Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

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Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

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RecessiveREEP1mutation is asso ...... opathy and diaphragmatic palsy

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P1476

Recessive REEP1 mutation is as ...... opathy and diaphragmatic palsy

@en

P2093

Arpad von Moers

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Esther Gill

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Franziska Seifert

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Gudrun Schottmann

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Katja von Au

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Markus Schuelke

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Susanne Morales-Gonzalez

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Werner Stenzel

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P2860

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

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

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

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

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

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

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

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e32

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scholarly article

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10.1212/NXG.0000000000000032

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P433

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P478

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Dominik Seelow

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2015-10-22T00:00:00Z

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27066569

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P921

birth defect

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4811389

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Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

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P2860

P2860

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

description

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type

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P1433

P1476

P2093

P2860

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P932