Results 111 to 120 of about 30,367 (239)

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]

, 2018
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp, Niemann, Axel, Suter, Ueli   +2 more
core  

Prevalence and orthopedic management of foot and ankle deformities in Charcot Marie Tooth disease [PDF]

, 2006
Introduction/Aims: We aimed to determine whether specific severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) vaccines may be associated with acute-onset polyradiculoneuropathy and if they may result in particular clinical presentations. Methods:
Aagaard, Abbot, Allen, Babault, Behm, Behm, Behm, Belanger, Bigland-Ritchie, Blimkie, Carolan, Deschenes, Gandevia, Gossen, Guissard, Herbert, Jewell, Kellis, Kent-Braun, Klein, Krevolin, Kubo, Lipold, Loring, Maganaris, Martin, Merton, Muraoka, Newman, Onambele, Pearson, Pearson, Reeves, Reeves, Todd, Yehuda   +35 more
core   +4 more sources

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project [PDF]

, 2020
Menelaos Pipis, Henry Houlden, Mary M. Reilly   +2 more
openalex   +1 more source

Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J [PDF]

, 2021
John Svaren
openalex   +1 more source

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

Frontiers in Neurology
This report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle
Gao-Hui Cao, Mei-Fang Zhao, Yi Dong, Liang-Liang Fan, Yi-Hui Liu, Yao Deng, Lu-Lu Tang   +6 more
doaj   +1 more source

The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]

, 2017
Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte, Feltri, M. Laura, Halfter, Hartmut, Horn, Michael, Huber, Nina, Lebrun-Julien, Frédéric, Niemann, Axel, Pereira, Jorge A., Somandin, Christian, Suter, Ueli, Toyka, Klaus V., Wagner, Konstanze M., Welzl, Hans, Wessig, Carsten, Wrabetz, Lawrence, Young, Peter   +15 more
core  

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease [PDF]

, 2009
Marian A. J. Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P.A. Samijn, W. Ludo van der Pol, Farid Meggouh, Frank Baas   +7 more
openalex   +1 more source

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Case Reports in Cardiology, 2015
We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI.
Sherif Ali Eltawansy, Andrea Bakos, John Checton   +2 more
doaj   +1 more source