ALLMedicine™ Charcot-Marie-Tooth Disease Center
Research & Reviews 661 results
Journal of Neurology, Neurosurgery, and Psychiatry; Pipis M, Cortese A et. al.
Sep 15th, 2021 - Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). In this large observational study, we present phenoty...
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Neuroradiology Karavasilis E, Christidi F et. al.
Sep 10th, 2021 - Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CN...
Neurology Donlevy GA, Garnett SP et. al.
Sep 9th, 2021 - This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT). We conducted a cross-sectional analysis of 477 patients with CMT aged 3-20 years from the Inherited Neuropathy Con...
Laboratory Medicine; Tsamis KI, Xiromerisiou G et. al.
Sep 5th, 2021 - The advent of next generation sequencing has revolutionized diagnostic approaches to hereditary polyneuropathies. Recently, mutations on the membrane metallo-endopeptidase (MME) gene, encoding neprilysin, have been related to the development of la...
Human Molecular Genetics; Narayanan RK, Brewer MH et. al.
Aug 14th, 2021 - Charcot-Marie-Tooth (CMT) is a commonly inherited, non-fatal neurodegenerative disorder that affects sensory and motor neurons in patients. More than 90 genes are known to cause axonal and demyelinating forms of CMT. The p.R158H mutation in the py...
News 13 results
Mar 15th, 2021 - "Symptoms, then, are in reality nothing but a cry from suffering organs" – Jean-Martin Charcot Nearly 130 years after his death, Jean-Martin Charcot's name still resonates with modern neurologists. The famed 19th century French physician made myri...
Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.
Oct 19th, 2019 - AUSTIN, TEX. – Patients with Charcot-Marie-Tooth disease (CMT) receive a range of supportive care that includes physical therapy, surgery, medications, orthoses, and walking aids, according to patient-reported data presented at the annual meeting.
Aug 30th, 2019 - When CIDP is suspected, CSF can be tested. A significantly increased protein level is found in 80% of patients, usually between 50 and 200 mg/dL, although it can be higher with a normal white blood cell count in the CSF. In addition, 10% of patien...
Jul 24th, 2017 - Patients with an acute transient immune response that is directed against small nerve fibers can display features similar to those of Guillain-Barré syndrome, according to Nobuhiro Yuki, PhD, and associates. The investigators described three Chine.