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Update on Charcot–Marie–Tooth disease [PDF]

open access: yesCurrent Opinion in Neurology, 2015
Charcot-Marie-Tooth disease (CMT) is the common terminology used to describe the hereditary neuropathies. This update reviews advances in the past year in our understanding of these diseases, including some important earlier references.In the past year, advances in next-generation sequencing continued to increase the number of genes associated with CMT.
Laurie Gutmann, Michael E. Shy
openaire   +4 more sources

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A

open access: yesNature Communications, 2021
Charcot-Marie-Tooth disease 1 A (CMT1A) results from a duplication of the PMP22 gene in Schwann cells and a deficit of myelination in peripheral nerves.
Benoît Gautier   +18 more
semanticscholar   +1 more source

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

open access: yesBrain : a journal of neurology, 2020
Pipis et al. describe the characteristics and longitudinal follow-up of 225 patients with Charcot-Marie-Tooth disease type 2A, caused by mutations in MFN2.
M. Pipis   +59 more
semanticscholar   +1 more source

Satisfaction with ankle foot orthoses in individuals with Charcot‐Marie‐Tooth disease

open access: yesMuscle and Nerve, 2020
Ankle foot orthoses (AFOs) are commonly prescribed to individuals with Charcot‐Marie‐Tooth disease (CMT). The aim of this study was to evaluate patient reported satisfaction with orthotic devices and services in individuals with CMT to provide ...
R. Zuccarino   +3 more
semanticscholar   +1 more source

miR-140-3p enhanced the osteo/odontogenic differentiation of DPSCs via inhibiting KMT5B under hypoxia condition

open access: yesInternational Journal of Oral Science, 2021
Human dental pulp stem cells (DPSCs) have emerged as an important source of stem cells in the tissue engineering, and hypoxia will change various innate characteristics of DPSCs and then affect dental tissue regeneration.
Han Zheng   +5 more
doaj   +1 more source

The Alteration of Salivary Immunoglobulin A in Autism Spectrum Disorders

open access: yesFrontiers in Psychiatry, 2021
Objectives: Autism spectrum disorders (ASD) are neurodevelopmental disorders with changes in the gut and oral microbiota. Based on the intimate relationship between the oral microbiota and oral mucosal immunity, this study aimed to investigate changes in
Wuyi Gong   +7 more
doaj   +1 more source

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

open access: yesAnnals of Clinical and Translational Neurology, 2020
ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy.
Julius Rönkkö   +16 more
semanticscholar   +1 more source

Risk of having myocardial infarction in periodontal disease patients: A systematic review

open access: yesJournal of Indian Association of Public Health Dentistry, 2019
Introduction: Periodontal disease is a common inflammatory disease of the teeth. There is mounting evidence that poor dental health, especially the occurrence of periodontal disease, increases the probability of the occurrence of cardiovascular disease ...
Monika Kumari   +5 more
doaj   +1 more source

Treatment for Charcot-Marie-Tooth disease [PDF]

open access: yesCochrane Database of Systematic Reviews, 2006
Charcot-Marie-Tooth disease (CMT) comprises a large variety of different forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) and axonal forms (CMT2). The molecular basis of several CMT forms has been clarified during the last 15 years.
Young, P.   +3 more
openaire   +3 more sources

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