Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. - Wikidata - wikimedia - TriplyDB

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

http://www.wikidata.org/entity/Q41104240

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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Recent advances in the genetic neuropathies.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Hereditary Neuropathies.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

http://www.wikidata.org/entity/Q41104240

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P2860

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

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

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

Age associated axonal features in HNPP with 17p11.2 deletion in Japan.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

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