Clinical implications of genetic advances in Charcot-Marie-Tooth disease. - Wikidata - wikimedia - TriplyDB

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q38135690

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Ascorbic acid for the treatment of Charcot-Marie-Tooth disease The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management Regulation of the Epigenome by Vitamin C What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.New insights on Schwann cell development Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot-Marie-Tooth Disease Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy.Copy number variations in a population-based study of Charcot-Marie-Tooth disease Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.Distal Symmetric Polyneuropathy: A Review.Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.Mitochondria: impaired mitochondrial translation in human disease Charcot-Marie-Tooth disease and pathways to molecular based therapies.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Chaperoning heat shock proteins: proteomic analysis and relevance for normal and dystrophin-deficient muscle.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Ultrasound in the diagnosis of peripheral neuropathy: structure meets function in the neuromuscular clinic.

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

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NRNEUROL.2013.179

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Nature Reviews Neurology

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

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Henry Houlden

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James M Polke

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Mary M Reilly

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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nrneurol.2013.179

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562-571

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10.1038/NRNEUROL.2013.179

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10

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Alexander M Rossor

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1015330104

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24018473

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