Enfermedad de Charcot Marie Tooth en un niño Charcot-Marie-Tooth disease in a child
Se presenta el caso clínico de un niño de 7 años de edad con enfermedad de Charcot Marie Tooth, atendido en el Servicio de Rehabilitación del Hospital Infantil Norte Docente "Dr.
Teresa Vidal Pérez+4 more
doaj
The Regentime stem cell procedure, successful treatment for a Charcot–Marie–Tooth disease case
Key Clinical Message This report highlights the successful treatment of a Charcot–Marie–Tooth disease case using the Regentime stem cell procedure, suggesting its potential as a promising therapeutic approach for patients suffering from this challenging ...
Nassim H. Abi Chahine+5 more
doaj +1 more source
Paddy Disease Detection and Classification Using Computer Vision Techniques: A Mobile Application to Detect Paddy Disease [PDF]
Plant diseases significantly impact our food supply, causing problems for farmers, economies reliant on agriculture, and global food security. Accurate and timely plant disease diagnosis is crucial for effective treatment and minimizing yield losses.
arxiv
Charcot-Marie-Tooth disease and posterior scleritis: a case report [PDF]
Elisabeth Nogueira Martins+5 more
openalex +1 more source
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells [PDF]
Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease.
Baumann, Reto+12 more
core
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease [PDF]
A. Guilbot
openalex +1 more source
GDAP1-related autosomal dominant Charcot-Marie-Tooth disease : phenotypical and MRI features [PDF]
El present estudi es basa en la descripció de quatre famílies portadores d'una mateixa mutació puntual (p.R120W) en el gen GDAP1 que segreguen d'una manera autosòmica dominant.
Sevilla Mantecón, Maria Teresa+4 more
core
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease [PDF]
Olivier Dubourg
openalex +1 more source
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A [PDF]
Javier Perea
openalex +1 more source
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
Benjamin B. Roa+6 more
openalex +1 more source