The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. - Wikidata - awgldk - TriplyDB

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

http://www.wikidata.org/entity/Q42113493

about

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach A brief review of recent Charcot-Marie-Tooth research and priorities Structural variation mutagenesis of the human genome: Impact on disease and evolution.Chaperonopathies: Spotlight on Hereditary Motor Neuropathies Collaboration for rare disease drug discovery research Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Protein Mis-Termination Initiates Genetic Diseases, Cancers, and Restricts Bacterial Genome Expansion.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.Molecular diagnostic experience of whole-exome sequencing in adult patients Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Genetic heterogeneity of motor neuropathies Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Promoting peripheral myelin repair.FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci.Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.Cell transplantation strategies for acquired and inherited disorders of peripheral myelin.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

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The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

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The allelic spectrum of Charco ...... 0 individuals with neuropathy.

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Adam C Medeiros

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Carol A Hoffman

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Christina DiVincenzo

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Christopher D Elzinga

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Corey D Braastad

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Izabela Karbassi

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Human genome sequencing in health and disease

A large genome center's improvements to the Illumina sequencing system.

Fast and accurate long-read alignment with Burrows-Wheeler transform

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Inherited neuropathies: from gene to disease.

Measurement of locus copy number by hybridisation with amplifiable probes

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.

Charcot-Marie-Tooth disease and related peripheral neuropathies.

Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture.

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodia

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