Charcot-Marie-Tooth diseases: an update and some new proposals for the classification. - Wikidata - awgldk - TriplyDB

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

http://www.wikidata.org/entity/Q38561514

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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.Too many numbers and complexity: time to update the classifications of neurogenetic disorders?Transcriptome Analysis of Chemically-Induced Sensory Neuron Ablation in Zebrafish.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.Promoting peripheral myelin repair.Towards a functional pathology of hereditary neuropathies.Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?Schwann cell development, maturation and regeneration: a focus on classic and emerging intracellular signaling pathways Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Locomotor and skeletal muscle abnormalities in trembler J neuropathic mice.Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

http://www.wikidata.org/entity/Q38561514

description

2015 nî lūn-bûn

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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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2015年论文

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2015年论文

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

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JMEDGENET-2015-103272

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Journal of Medical Genetics

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

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Anne-Sophie Lia

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Corinne Magdelaine

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Cyril Goizet

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Jean-Michel Vallat

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Meriem Tazir

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Stéphane Mathis

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P2860

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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10.1136/JMEDGENET-2015-103272

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