Results 11 to 20 of about 49,167 (262)

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]

Journal of Clinical Investigation, 2019
Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad, Antonietta Franco, Bergamin, Bin Lu, Burté, Cartoni, Cathleen M. Lutz, Chung, El Fissi, Gerald W. Dorn, Guyenet, Jesse Landeros, Lee, Michael Vazquez, Ritchie Ho, Robert H. Baloh, Rouzier, Santel, Santel, Shaomei Wang, Sharon Carmona, Shaughn Bell, Verhoeven, Yueqin Zhou   +23 more
core   +3 more sources

Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025). [PDF]

Health Sci Rep
ABSTRACT Background and Aims The Charcot–Marie–Tooth disease (CMT) comprises genetically diverse motor and sensory neuropathies. This study aims to conduct a comprehensive investigation into the current academic and clinical status of CMT, thereby providing researchers with an extensive understanding of the research landscape and analysis of prevailing
Cao L, Liu Y, Li J, Xia X, Zhao G.
europepmc   +2 more sources

The Current State of Charcot–Marie–Tooth Disease Treatment

Genes, 2023
Charcot–Marie–Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which
Y. Okamoto, H. Takashima
semanticscholar   +1 more source

Recent advances in the treatment of Charcot‐Marie‐Tooth neuropathies

Journal of the peripheral nervous system, 2023
Charcot‐Marie‐Tooth (CMT) neuropathies are one of the most common neuromuscular disorders. However, despite the identification of more than 100 causative genes, therapeutic options are still missing.
A. Bolino, M. D’Antonio
semanticscholar   +1 more source

Misregulation of mitochondria–lysosome contact dynamics in Charcot–Marie–Tooth Type 2B disease Rab7 mutant sensory peripheral neurons

Proceedings of the National Academy of Sciences of the United States of America, 2023
Significance Charcot–Marie–Tooth disease is the most common genetic peripheral neuropathy, with autosomal dominant mutations in Rab7 causing Charcot–Marie–Tooth type 2B disease, which is characterized by the axonal degeneration of peripheral sensory ...
Y. Wong, Nirupa D. Jayaraj, Tayler B. Belton, George C Shum, Hannah E Ball, D. Ren, A. Tadenev, D. Krainc, R. W. Burgess, D. Menichella   +9 more
semanticscholar   +1 more source

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

Nature 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, Helene Hajjar, S. Soares, J. Berthelot, M. Deck, Scarlette Abbou, G. Campbell, M. Ceprián, Sergio Gonzalez, Claire-Maelle Fovet, Vlad Schütza, Antoine Jouvenel, C. Rivat, M. Zerah, V. François, Caroline Le Guiner, P. Aubourg, R. Fledrich, N. Tricaud   +18 more
semanticscholar   +1 more source

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies

International Journal of Molecular Sciences, 2021
Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically heterogeneous disorders affecting the peripheral nerves, causing significant and slowly progressive disability over the lifespan.
M. Stavrou, I. Sargiannidou, E. Georgiou, A. Kagiava, K. Kleopa   +4 more
semanticscholar   +1 more source

Human Peripheral Myelin Protein 2 and Charcot-Marie-Tooth Disease or Structural Missense Variants Show Different Binding to Myelin-Like Lipid Monolayers. [PDF]

Chembiochem
We compare the membrane affinity of the P2 myelin protein and its Charcot–Marie–Tooth disease variants on a myelin‐like lipid monolayer. Epifluorescence microscopy reveals different two‐dimensional (2D) clustering and pressure‐dependent binding. Single‐point mutations in the P2 β‐barrel and α‐helix affect affinity.
Schöffmann FA, Imran MAS, Schwieger C, Hetland Ø, Jerschabek V, Raasakka A, Kursula P, Hinderberger D.   +7 more
europepmc   +2 more sources

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

Orphanet Journal of Rare Diseases, 2021
Background Charcot–Marie–Tooth disease type 1A (CMT1A) is a rare, orphan, hereditary neuromuscular disorder with no cure and for which only symptomatic treatment is currently available.
S. Attarian, P. Young, T. Brannagan, David John Adams, P. van Damme, F. Thomas, Carlos Casanovas, C. Tard, M. Walter, Y. Péréon, D. Walk, A. Stino, M. de Visser, C. Verhamme, A. Amato, Gregory Carter, L. Magy, J. Statland, Kevin Felice   +18 more
semanticscholar   +1 more source

Comparison of the effect of existential therapy and acceptance and commitment therapy on death anxiety, peak experiences and mental health of patients with charcot marie tooth [PDF]

مجله علوم روانشناختی, 2023
Background: Charcot Marie Tooth (CMT) is a genetic disease in which peripheral nerves are damaged, also known as hereditary sensory and motor neuropathy.
seyedeh asghar faghani tolon, morteza golestani pour, seyedeh zahra sadati   +2 more
doaj