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About 3,822 results

ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  1,895 results

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal C...
https://doi.org/10.1016/j.nmd.2021.03.005
Neuromuscular Disorders : NMD; Figueiredo FB, Silva WA et. al.

Apr 27th, 2021 - Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) are associated with several subtypes of Charcot-Marie-Tooth (CMT) disease, including autosomal recessive and demyelinating (CMT4A); autosomal recessive and axonal (AR-CM...

Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in ...
https://doi.org/10.1073/pnas.2015331118 10.1021/acs.analchem.0c04948
Proceedings of the National Academy of Sciences of the Un... Fantin SM, Parson KF et. al.

Apr 24th, 2021 - Peripheral myelin protein (PMP22) is an integral membrane protein that traffics inefficiently even in wild-type (WT) form, with only 20% of the WT protein reaching its final plasma membrane destination in myelinating Schwann cells. Misfolding of P...

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
https://doi.org/10.1093/brain/awab019
Brain : a Journal of Neurology; Rebelo AP, Cortese A et. al.

Apr 23rd, 2021 - The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is ess...

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in...
https://doi.org/10.1038/s41467-021-22593-3 10.1002/glia.20750 10.1016/j.neulet.2015.01.059 10.1016/j.pmrj.2013.08.611 10.1097/WCO.0000000000000474 10.1038/s41582-019-0254-5 10.1007/s12035-012-8370-x 10.1016/j.nbd.2017.01.006 10.5607/en.2019.28.2.279 10.1172/JCI96499 10.1038/s41467-018-05420-0 10.1002/jgm.3015 10.1073/pnas.1522202113 10.1093/brain/awz064 10.1126/science.aan4672 10.1016/j.neuron.2019.02.017 10.1056/NEJMoa1706198 10.1016/j.nmd.2014.06.431 10.1111/j.1529-8027.2011.00350.x 10.1111/jns.12084 10.1136/jnnp-2017-315721 10.1038/gt.2011.7 10.1038/gt.2015.47 10.1038/nprot.2014.073 10.1002/jbio.201800186 10.1016/S0896-6273(00)80128-2 10.1038/nm.3664 10.1093/brain/awr322 10.1038/s41467-019-09385-6 10.1093/brain/awp274 10.1093/brain/123.7.1516 10.1016/S1474-4422(11)70025-4 10.1016/S1474-4422(11)70042-4 10.1093/brain/awp251 10.1038/nm.3684 10.1002/brb3.1118 10.1016/j.nbd.2016.07.017 10.1038/mt.2013.250 10.1038/s41434-018-0009-8 10.1186/s40478-019-0740-4 10.1371/journal.pone.0188830 10.1038/gt.2017.18 10.1089/hum.2011.200 10.1007/s11916-019-0782-0 10.1093/bmb/lds010 10.1016/j.tcb.2006.12.007 10.3390/ijms20143419 10.1182/blood-2013-01-306647 10.1089/hum.2017.150 10.1038/s41573-019-0012-9 10.1089/hgtb.2012.009 10.1038/mt.2012.261 10.1111/1440-1681.12453 10.1038/mtm.2016.60 10.4161/tisb.24956 10.1089/hum.2009.182 10.1136/jnnp.2005.081547 10.1002/ana.23572 10.2174/156652310793797685 10.1002/jnr.490320103 10.1016/j.ab.2020.113608 10.1097/00000542-200202000-00025 10.1007/978-1-61779-370-7_15
Nature Communications; Gautier B, Hajjar H et. al.

Apr 22nd, 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. Patients with CMT1A have reduced nerve conduction velocity, muscle wasting, hand and foot defo...

Management of gait impairments in people with Charcot Marie Tooths disease: A treatment...
https://doi.org/10.2340/16501977-2831
Journal of Rehabilitation Medicine; Nonnekes J, Hofstad C et. al.

Apr 21st, 2021 - Gait impairments in people with hereditary motor and sensory neuropathy (also known as Charcot-Marie-Tooth disease) are the combined result of ankle-foot deformities, muscle weakness, and somatosensory impairments. People with hereditary neuropath...

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Clinicaltrials.gov  1,911 results

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal C...
https://doi.org/10.1016/j.nmd.2021.03.005
Neuromuscular Disorders : NMD; Figueiredo FB, Silva WA et. al.

Apr 27th, 2021 - Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) are associated with several subtypes of Charcot-Marie-Tooth (CMT) disease, including autosomal recessive and demyelinating (CMT4A); autosomal recessive and axonal (AR-CM...

Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in ...
https://doi.org/10.1073/pnas.2015331118 10.1021/acs.analchem.0c04948
Proceedings of the National Academy of Sciences of the Un... Fantin SM, Parson KF et. al.

Apr 24th, 2021 - Peripheral myelin protein (PMP22) is an integral membrane protein that traffics inefficiently even in wild-type (WT) form, with only 20% of the WT protein reaching its final plasma membrane destination in myelinating Schwann cells. Misfolding of P...

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
https://doi.org/10.1093/brain/awab019
Brain : a Journal of Neurology; Rebelo AP, Cortese A et. al.

Apr 23rd, 2021 - The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is ess...

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in...
https://doi.org/10.1038/s41467-021-22593-3 10.1002/glia.20750 10.1016/j.neulet.2015.01.059 10.1016/j.pmrj.2013.08.611 10.1097/WCO.0000000000000474 10.1038/s41582-019-0254-5 10.1007/s12035-012-8370-x 10.1016/j.nbd.2017.01.006 10.5607/en.2019.28.2.279 10.1172/JCI96499 10.1038/s41467-018-05420-0 10.1002/jgm.3015 10.1073/pnas.1522202113 10.1093/brain/awz064 10.1126/science.aan4672 10.1016/j.neuron.2019.02.017 10.1056/NEJMoa1706198 10.1016/j.nmd.2014.06.431 10.1111/j.1529-8027.2011.00350.x 10.1111/jns.12084 10.1136/jnnp-2017-315721 10.1038/gt.2011.7 10.1038/gt.2015.47 10.1038/nprot.2014.073 10.1002/jbio.201800186 10.1016/S0896-6273(00)80128-2 10.1038/nm.3664 10.1093/brain/awr322 10.1038/s41467-019-09385-6 10.1093/brain/awp274 10.1093/brain/123.7.1516 10.1016/S1474-4422(11)70025-4 10.1016/S1474-4422(11)70042-4 10.1093/brain/awp251 10.1038/nm.3684 10.1002/brb3.1118 10.1016/j.nbd.2016.07.017 10.1038/mt.2013.250 10.1038/s41434-018-0009-8 10.1186/s40478-019-0740-4 10.1371/journal.pone.0188830 10.1038/gt.2017.18 10.1089/hum.2011.200 10.1007/s11916-019-0782-0 10.1093/bmb/lds010 10.1016/j.tcb.2006.12.007 10.3390/ijms20143419 10.1182/blood-2013-01-306647 10.1089/hum.2017.150 10.1038/s41573-019-0012-9 10.1089/hgtb.2012.009 10.1038/mt.2012.261 10.1111/1440-1681.12453 10.1038/mtm.2016.60 10.4161/tisb.24956 10.1089/hum.2009.182 10.1136/jnnp.2005.081547 10.1002/ana.23572 10.2174/156652310793797685 10.1002/jnr.490320103 10.1016/j.ab.2020.113608 10.1097/00000542-200202000-00025 10.1007/978-1-61779-370-7_15
Nature Communications; Gautier B, Hajjar H et. al.

Apr 22nd, 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. Patients with CMT1A have reduced nerve conduction velocity, muscle wasting, hand and foot defo...

Management of gait impairments in people with Charcot Marie Tooths disease: A treatment...
https://doi.org/10.2340/16501977-2831
Journal of Rehabilitation Medicine; Nonnekes J, Hofstad C et. al.

Apr 21st, 2021 - Gait impairments in people with hereditary motor and sensory neuropathy (also known as Charcot-Marie-Tooth disease) are the combined result of ankle-foot deformities, muscle weakness, and somatosensory impairments. People with hereditary neuropath...

see more →

News  11 results

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

Mar 14th, 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...

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.

Hereditary Neuropathy Foundation Announces Newest Center of Excellence
https://www.mdedge.com/clinicianreviews/article/120375/rare-diseases/hereditary-neuropathy-foundation-announces-newest

Dec 9th, 2016 - Hackensack University Medical Center has been designated a center of excellence by the Hereditary Neuropathy Foundation. The designation was made as a result of the medical center’s clinical care, community engagement, research, and educate relate.

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures
https://www.mdedge.com/surgery/article/105624/rheumatology/phenotype-hnpp-hereditary-neuropathy-liability-pressure-palsies?channel=264
Kramer M, Ly A et. al.

Jan 7th, 2016 - PMP22 is a tetra-span membrane protein primarily expressed in myelinating Schwann cells. Heterozygous deletion of the PMP22 gene (1 copy) causes HNPP (hereditary neuropathy with liability to pressure palsies).

Multigene Testing Identifies Charcot-Marie-Tooth Disease and Related Disorders
https://www.mdedge.com/neurology/article/101649/rare-diseases/multigene-testing-identifies-charcot-marie-tooth-disease-and

Aug 3rd, 2015 - WASHINGTON, DC—Inherited neuropathies such as Charcot-Marie-Tooth disease (CMT) can be diagnosed effectively through multigene panels, according to results presented at the 67th Annual Meeting of the American Academy of Neurology. The findings ind.

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Patient Education  5 results see all →