Results 31 to 40 of about 49,167 (262)

Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]

, 2012
Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah, Jean, Steve, Kiger, Amy, Robinson, Fred L, Schmidt, Eric J   +4 more
core   +1 more source

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]

, 2007
Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core   +2 more sources

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Hereditas, 2023
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern.
Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu   +6 more
doaj   +1 more source

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +1 more source

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Brain : a journal of neurology, 2020
Pipis et al. describe the characteristics and longitudinal follow-up of 225 patients with Charcot-Marie-Tooth disease type 2A, caused by mutations in MFN2.
M. Pipis, S. Feely, J. Polke, M. Skorupinska, Laura Perez, R. Shy, M. Laurá, J. Morrow, I. Moroni, C. Pisciotta, F. Taroni, Dragan Vujovic, T. Lloyd, G. Acsadi, S. Yum, R. Lewis, R. Finkel, D. Herrmann, J. Day, Jun Li, M. Saporta, R. Sadjadi, D. Walk, J. Burns, F. Muntoni, S. Ramchandren, R. Horvath, N. Johnson, S. Züchner, D. Pareyson, S. Scherer, A. Rossor, M. Shy, M. Reilly, S. Baratta, P. Bray, D. Calabrese, Kayla M. D. Cornett, Gabrielle A. Donlevy, K. Eichinger, M. Foscan, S. Genitrini, Natalie R. Grant, Tara Jones, Diana C Lee, Brett A. McCray, S. Magri, M. Menezes, Krista Mullen, Tina Nanji, Sarah Nuzzo, E. Pagliano, R. Poh, Eun Park, S. Sadaf, P. Saveri, C. Siskind, J. Sowden, C. Sumner, Simone Thomas   +59 more
semanticscholar   +1 more source

From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]

, 2012
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman, A. G. Hendricks, A. G. Hendricks, A. J. Roberts, A. Kunwar, A. P. Carter, A. V. Kuznetsov, A. V. Kuznetsov, Anotida Madzvamuse, C. Korn, C. L. Brown, Caroline A. Garrett, D. A. Smith, D. Tsygankov, E. Bananis, J. L. Ross, J. Munárriz, J. W. Driver, J. W. Murray, J. W. Wojcieszyn, K. Imamula, K. M. Ori-McKenney, K. S. Zadeh, L. W. Duchen, Laurie Crossley, M. A. Gee, M. B. Harms, M. Bier, M. H. Willemsen, M. Hafezparast, M. N. Weedon, M. Schliwa, M. Schuster, M. Schuster, Majid Hafezparast, O. J. Driskell, P. Ashwin, R. D. Vale, S. A. Burgess, S. Ally, S. C. Schaffner, S. Hoepfner, S. Lubery, S. Mitragotri, S. Mukherji, T. D. Pollard, T. Kon, V. Soppina, W. Deng, X. J. Chen, Y. Gao, Y. Imafuku, Y. Zhang, Y. Zhang   +53 more
core   +1 more source

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients. [PDF]

PLoS ONE, 2017
The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A).
Wenjia Wang, Mickaël Guedj, Viviane Bertrand, Julie Foucquier, Elisabeth Jouve, Daniel Commenges, Cécile Proust-Lima, Niall P Murphy, Olivier Blin, Laurent Magy, Daniel Cohen, Shahram Attarian   +11 more
doaj   +1 more source

Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. [PDF]

, 2016
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged
Bannerman, Peter, Burns, Travis, Miers, Laird, Pleasure, David, Xu, Jie   +4 more
core   +4 more sources

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +4 more sources

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

Cell Reports, 2017
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction.
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess   +6 more
doaj   +1 more source