Natalie R Barnett,1 Amanda M Bunnell,1 Matthew A Dow2 1Department of Anesthesiology and Perioperative Medicine, Medical University of South Carolina, Charleston, SC, USA; 2Department of Orthopaedics and Physical Medicine, Medical University of South ...
Barnett NR, Bunnell AM, Dow MA
doaj
Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12 [PDF]
A. Vandenberghe+11 more
openalex +1 more source
Diagnóstico diferencial entre “Enfermedad articular neuropática de Charcot y Enfermedad de Charcot Marie Tooth” [PDF]
Treball Final de Grau de Podologia, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, curs: 2016-2017, Tutor: Carolina Padrós SánchezLa Neuroartropatia de Charcot y el Charcot Marie Tooth fueron descritas por Jean Marie Charcot en ...
Alberola Serna, Noemí
core
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]
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+15 more
core
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val) [PDF]
K Misu
openalex +1 more source
Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene [PDF]
Valérie Delague+9 more
openalex +1 more source
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease [PDF]
Tsuyoshi Yoshihara+8 more
openalex +1 more source
Flatfish Disease Detection Based on Part Segmentation Approach and Disease Image Generation [PDF]
The flatfish is a major farmed species consumed globally in large quantities. However, due to the densely populated farming environment, flatfish are susceptible to injuries and diseases, making early disease detection crucial. Traditionally, diseases were detected through visual inspection, but observing large numbers of fish is challenging. Automated
arxiv
NERVE CONDUCTION STUDIES IN CHARCOT-MARIE-TOOTH DISEASE
P. M. Humberstone
openalex +1 more source
Arrhythmia and Charcot-Marie-Tooth disease during anesthesia [PDF]
John E. Tetzlaff, Ivan Schwendt
openalex +1 more source