Diagnosis of Charcot-Marie-Tooth disease. - Wikidata - awgldk - TriplyDB

Diagnosis of Charcot-Marie-Tooth disease.

Diagnosis of Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q37383716

about

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach Charcot-Marie-Tooth disease and intracellular traffic Saturation of the human phenome The myotubularin family of lipid phosphatases in disease and in spermatogenesis Misunderstanding of foot drop in a patient with charcot-marie-tooth disease and lumbar disk herniation The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Amount and intensity of daily living activities in Charcot-Marie-Tooth 1A patients Pes cavus and hereditary neuropathies: when a relationship should be suspected.Intermediate Charcot-Marie-Tooth disease.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.The role of tRNA synthetases in neurological and neuromuscular disorders.Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.Risk of fracture in patients with Charcot-Marie-Tooth disease An anterior ankle-foot orthosis improves walking economy in Charcot–Marie–Tooth type 1A patients

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P2860

Diagnosis of Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q37383716

description

article científic

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on 08 October 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Diagnosis of Charcot-Marie-Tooth disease.

@en

Diagnosis of Charcot-Marie-Tooth disease.

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type

label

Diagnosis of Charcot-Marie-Tooth disease.

@en

Diagnosis of Charcot-Marie-Tooth disease.

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Diagnosis of Charcot-Marie-Tooth disease.

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Diagnosis of Charcot-Marie-Tooth disease.

@nl

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Journal of Biomedicine and Biotechnology

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Diagnosis of Charcot-Marie-Tooth disease

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P2093

Antonia Albertí

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Isabel Banchs

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Jordi Montero

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Juan Antonio Martínez-Matos

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Laura De Jorge

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Mónica Povedano

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Victor Volpini

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P2860

Connexin mutations in X-linked Charcot-Marie-Tooth disease

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

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

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

Population frequencies of inherited neuromuscular diseases--a world survey

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

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985415

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scholarly article

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10.1155/2009/985415

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2009

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Carlos Casasnovas

Carlos Casasnovas

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2009-10-08T00:00:00Z

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26892086

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19826499

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Charcot–Marie–Tooth disease

hereditary sensory and autonomic neuropathy type 2

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2760395

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