Results 31 to 40 of about 29,182 (218)

Pathological classification of equine recurrent laryngeal neuropathy [PDF]

, 2018
Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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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

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
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Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders [PDF]

, 2023
BACKGROUND: Charcot–Marie–Tooth disease is the most common inherited peripheral neuropathy and many patients with Charcot–Marie–Tooth are women of childbearing age. Guidelines for managing pregnancy in Charcot–Marie–Tooth are lacking. AIMS: To assess the
Byrne, Bridgette, Laura, Matilde, Ramdharry, Gita, Reilly, Mary M, Skorupinska, Mariola   +4 more
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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

Case Reports in Medicine, 2022
This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical ...
Nivedita U. Jerath
doaj   +1 more source

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
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GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

Communications Biology, 2022
GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf, Alireza Pouya, Sara Bitar, Annika Pfeiffer, Diones Bueno, Liliana Rojas-Charry, Sabine Arndt, David Gomez-Zepeda, Stefan Tenzer, Federica Dal Bello, Caterina Vianello, Sandra Ritz, Jonas Schwirz, Kristina Dobrindt, Michael Peitz, Eva-Maria Hanschmann, Pauline Mencke, Ibrahim Boussaad, Marion Silies, Oliver Brüstle, Marta Giacomello, Rejko Krüger, Axel Methner   +22 more
doaj   +1 more source

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

Communications Biology, 2022
The Rab7V162M mutation associated with Charcot Marie Tooth 2B peripheral neuropathy causes mitochondrial fragmentation in patient-derived fibroblasts and primary cultured dorsal root ganglion sensory neurons from E18 mouse embryos.
Yingli Gu, Flora Guerra, Mingzheng Hu, Alexander Pope, Kijung Sung, Wanlin Yang, Simone Jetha, Thomas A. Shoff, Tessanya Gunatilake, Owen Dahlkamp, Linda Zhixia Shi, Fiore Manganelli, Maria Nolano, Yue Zhou, Jianqing Ding, Cecilia Bucci, Chengbiao Wu   +16 more
doaj   +1 more source

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]

, 2017
Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas, Kuner, Rohini, Meijer, Dies, Miehe, Michaela, Niemann, Axel, Oertli, Carole I., Sidiropoulos, Páris N. M., Suter, Ueli, Tinelli, Elisa, Wollscheid, Bernd   +9 more
core  

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]

, 2017
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong, Connolly, Anne M, Grider, Tiffany, Kamholz, John, Lupski, James R, Shy, Michael E, Wang, David S, Wu, Xingyao, Zaidman, Craig   +8 more
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