Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. - Test2 - elhamkhani - TriplyDB

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

http://www.wikidata.org/entity/Q38115571

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The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance N-myc downstream-regulated gene 1 (NDRG1) mediates pomegranate juice protection from apoptosis in hypoxic BeWo cells but not in primary human trophoblasts.Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Common and Divergent Mechanisms in Developmental Neuronal Remodeling and Dying Back Neurodegeneration.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease A comparative transcriptomic analysis of astrocytes differentiation from human neural progenitor cells.Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Hereditary Neuropathies.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.New Approaches to Difficult Drug Targets: The Phosphatase Story

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P2860

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

http://www.wikidata.org/entity/Q38115571

description

article científic

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article scientifique

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artikel ilmiah

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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

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Journal of the Peripheral Nervous System

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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

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Jean-Michel Vallat

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Meriem Tazir

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Mounia Bellatache

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Sonia Nouioua

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P2860

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease

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

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

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

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.

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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113-129

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scholarly article

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10.1111/JNS5.12026

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2

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18

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2013-06-01T00:00:00Z

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23781959

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