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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 23, 2024
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Records 1 - 19 (of 19 Records)
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Charcot-marie-tooth Disease[original query]>>Original Studies[Product Type]
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
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Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Alessandro Geroldi et al. Pediatr Neurol 2024 1544-8
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Relationship between care pathway features and use or non-use of orthotic devices by individuals with Charcot-Marie-Tooth disease: a cross-sectional, exploratory study.
Cédric Blouin et al. Disabil Rehabil 2023 1-11
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Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4
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Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.
Andries Aristomo et al. Journal of neuromuscular diseases 2022
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig Herminia et al. Annals of clinical and translational neurology 2021
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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME .
Senderek Jan et al. Neurology 2020 Nov
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Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig Herminia et al. Neurology 2020 Oct
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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet Juliette et al. BMJ open 2018 8(10) e021632
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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
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Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas Melissa R et al. Brain : a journal of neurology 2018 Nov
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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
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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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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.
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Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
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Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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