Results 111 to 120 of about 87,063 (285)
La Terre et La Vie, Revue d'Histoire naturelle, 1937 Germain L. Jean Charcot. In: La Terre et La Vie, Revue d'Histoire naturelle, tome 7, n°1, 1937. pp. 1-5.
openaire +3 more sources
Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan
Annals of Clinical and Translational Neurology, 2019 Charcot‐Marie‐Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited neuropathies. Mutations in more than 90 genes have been implicated in CMT; however, the mutational spectrum of CMT in Chinese population remains obscure ...
Yun‐Hsin Hsu +5 more
semanticscholar +1 more source
A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.
Iro Boura +4 more
wiley +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 +9 more
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Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
, 2019 The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F. +4 more
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Charcot Foot and the Osteoclast: More Than Just Cytokines
Foot & Ankle Orthopaedics, 2019 Category: Basic Sciences/Biologics Introduction/Purpose: Charcot foot is a serious complication of diabetes present in up to 13% carrying with high morbidity (dislocations, fractures, deformities) and up to 14% mortality.
Sébastien Stephens MD, PhD +1 more
doaj +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +3 more sources
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Augustine: Charcot’s Bunny [PDF]
Teksty Drugie, 2015 The article provides a critical reflection on the Iconography of Salpêtrière from the perspective of relationships between photographs from Charcot's clinic and the nude. The author discusses how the images supposed to provide medical documentation became an erotic object elevated by the Surrealists. It seems that art history and the history of medical
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Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
Journal of Neurology Neurosurgery & Psychiatry, 2018 Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in ...
M. Juneja +3 more
semanticscholar +1 more source