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ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  1,897 results

Diabetes coexistent with Charcot-Marie-Tooth disease presenting as a recurrent foot ulc...
https://doi.org/10.1111/jdi.13574
Journal of Diabetes Investigation; Yan Z, Chen D et. al.

May 15th, 2021 - Both diabetes mellitus (DM) and Charcot-Marie-Tooth disease (CMT) can lead to severe peripheral neuropathy. The differential diagnosis of peripheral neuropathy is difficult due to the similar clinical features. There are still some clues, such as ...

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8092585
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105037
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060274
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...

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Clinicaltrials.gov  1,913 results

Diabetes coexistent with Charcot-Marie-Tooth disease presenting as a recurrent foot ulc...
https://doi.org/10.1111/jdi.13574
Journal of Diabetes Investigation; Yan Z, Chen D et. al.

May 15th, 2021 - Both diabetes mellitus (DM) and Charcot-Marie-Tooth disease (CMT) can lead to severe peripheral neuropathy. The differential diagnosis of peripheral neuropathy is difficult due to the similar clinical features. There are still some clues, such as ...

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8092585
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105037
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060274
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...

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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 →