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ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  661 results

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-len...
https://doi.org/10.1136/jnnp-2021-327186
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...

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insigh...
https://doi.org/10.1007/s00234-021-02730-x 10.1093/brain/103.2.259 10.1007/BF00186458 10.1126/science.8266101 10.1523/JNEUROSCI.15-12-08281.1995 10.1136/jnnp.61.1.43 10.1136/jnnp.66.2.202 10.1002/ana.24824 10.1002/brb3.580 10.1002/ana.10305 10.1136/jnnp-2018-319014 10.1016/j.nurt.2007.05.011 10.1007/s00234-003-1114-x 10.1097/WCO.0b013e328306f2c5 10.1016/j.pnpbp.2012.07.004 10.1007/s00429-013-0641-4 10.1016/j.pnpbp.2012.01.011 10.1007/s00234-018-2138-6 10.1016/j.braindev.2006.07.002 10.1016/j.jneumeth.2008.04.012 10.1007/s10072-018-3401-7 10.1111/ene.14540 10.1016/j.neuroimage.2010.06.025 10.1212/WNL.0b013e3181f11c1d 10.1016/j.neuroimage.2007.09.066 10.1371/journal.pone.0140945 10.1016/s1053-8119(03)00169-1 10.1016/j.neuroimage.2003.09.032 10.1006/nimg.2001.0978 10.1002/hbm.10062 10.1016/j.neuroimage.2006.02.024 10.1016/j.neuroimage.2004.07.051 10.1089/brain.2012.0073 10.1002/mrm.1910340409 10.1016/j.jns.2012.01.017 10.1016/j.pediatrneurol.2007.12.003 10.1177/0883073809352378 10.1177/0883073812474343 10.1016/j.pjnns.2017.10.016 10.1111/j.1469-8749.2010.03674.x 10.1212/WNL.0b013e31822f046e 10.1017/s0317167100008994 10.1212/01.wnl.0000186032.06791.94 10.1212/01.wnl.0000095960.48964.25 10.1016/j.crad.2010.11.009 10.1212/WNL.0b013e3182661eca 10.1007/s00381-002-0604-1 10.1017/S1355617719001188 10.1523/JNEUROSCI.5923-10.2011 10.1016/j.schres.2007.01.029 10.1016/j.biopsych.2017.09.022 10.3174/ajnr.A5691 10.1523/JNEUROSCI.1435-18.2018 10.1073/pnas.1119828109 10.1016/s0896-6273(02)00830-9 10.1007/s11682-018-9924-y 10.1523/JNEUROSCI.3706-09.2009 10.1007/s12311-010-0168-7 10.1038/2245 10.1007/s12311-013-0511-x 10.1016/j.neuroimage.2008.08.039 10.1152/jn.00339.2011 10.7554/eLife.36652 10.1016/j.neuron.2013.10.044 10.1007/s12264-016-0016-y 10.1007/s10072-019-04142-5 10.1146/annurev.ph.31.030169.002315 10.11138/fneur/2016.31.4.229 10.1016/j.neurad.2018.07.004 10.1590/0004-282x20180021 10.1016/s0003-9993(98)90421-x 10.1016/j.neubiorev.2016.04.001 10.1002/hbm.24834 10.3389/fneur.2020.00795
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...

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth...
https://doi.org/10.1212/WNL.0000000000012725
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...

A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hered...
https://doi.org/10.1093/labmed/lmab060
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...

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase...
https://doi.org/10.1093/hmg/ddab228
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...

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News  13 results

Theatrics, Hypnosis, and the Roots of Modern Neurology
https://www.medscape.com/viewarticle/947504

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...

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/internalmedicine/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light?channel=53
Tara Haelle

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.

Patients with Charcot-Marie-Tooth disease describe wide range of care
https://www.mdedge.com/jcomjournal/article/210443/neuromuscular-disorders/patients-charcot-marie-tooth-disease-describe?channel=302
Jake Remaly

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.

Fast Five Quiz: Chronic Inflammatory Demyelinating Polyradiculoneuropathy Presentation and Diagnosis
https://reference.medscape.com/viewarticle/910272_5

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...

Painful autoimmune neuropathy may mimic Guillain-Barré syndrome
https://www.mdedge.com/neurology/article/143060/neuromuscular-disorders/painful-autoimmune-neuropathy-may-mimic-guillain
Lori Laubach

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.

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Patient Education  1 results see all →