Charcot-marie-tooth Disease
What's New
Last Posted: Nov 10, 2020
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME .
Senderek Jan et al. Neurology 2020 Nov - Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig Herminia et al. Neurology 2020 Oct - Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá Matilde et al. Current opinion in neurology 2019 32(5) 641-650 - Genetic approaches to the treatment of inherited neuromuscular diseases.
Ravi Bhavya et al. Human molecular genetics 2019 28(R1) R55-R64 - Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61 - Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet Juliette et al. BMJ open 2018 8(10) e021632 - Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Pipis Menelaos et al. Nature reviews. Neurology 2019 Oct - Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Vaeth Signe et al. European journal of medical genetics 2019 Jan 62(1) 1-8 - Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas Melissa R et al. Brain : a journal of neurology 2018 Nov - Neuropathy.
Pisciotta Chiara et al. Handbook of clinical neurology 2018 148653-665 - Precision Medicine for Charcot-Marie-Tooth Disease.
Pleasure David et al. JAMA neurology 2016 73(6) 623-4 - CLINGEN Actionability Report for DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - DNM2
ClinGen Actionability Working Group - CLINGEN Actionability Report for Charcot - Marie - Tooth Disease, Type 1 - PMP22, MPZ, LITAF, EGR2, NEFL
ClinGen Actionability Working Group - Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families.
Hartley Taila et al. Clinical genetics 2017 Jul - Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew Alexander P et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54
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- Page last updated:Dec 29, 2020
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