Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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prefLabel

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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P1476

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

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P2093

Adolfo López de Munain

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Ana Camacho

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Ana Lara Pelayo-Negro

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Andrés Nascimento

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Anna Lia Frongia

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Antonio Guerrero

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Carlos Casasnovas

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Carlos Ortez

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Carmen Díaz

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Isabel Illa

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P2860

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

P2888

s41598-017-06894-6

P304

6677

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P31

scholarly article

P356

10.1038/S41598-017-06894-6

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P407

English

P433

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P478

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Samuel Ignacio Pascual

Celedonio Márquez-Infante

R Rojas-García

T Sevilla

P577

2017-07-27T00:00:00Z

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P6179

1090859706

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P698

28751717

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P932

5532232

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