Demyelinating prenatal and infantile developmental neuropathies. - Test2 - elhamkhani - TriplyDB

Demyelinating prenatal and infantile developmental neuropathies.

Demyelinating prenatal and infantile developmental neuropathies.

http://www.wikidata.org/entity/Q37998518

about

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Etiologic spectrum of biopsy-proven peripheral neuropathies in childhood from a resource-poor setting.Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

P2860

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P2860

Demyelinating prenatal and infantile developmental neuropathies.

http://www.wikidata.org/entity/Q37998518

description

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article scientifique

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artikel ilmiah

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Demyelinating prenatal and infantile developmental neuropathies.

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Demyelinating prenatal and infantile developmental neuropathies.

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type

label

Demyelinating prenatal and infantile developmental neuropathies.

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Demyelinating prenatal and infantile developmental neuropathies.

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prefLabel

Demyelinating prenatal and infantile developmental neuropathies.

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Demyelinating prenatal and infantile developmental neuropathies.

@nl

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P356

J.1529-8027.2012.00379.X

P1433

Journal of the Peripheral Nervous System

P1476

Demyelinating prenatal and infantile developmental neuropathies.

@en

P2093

Eppie M Yiu

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P2860

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

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

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

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

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

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32-52

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10.1111/J.1529-8027.2012.00379.X

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