Results 131 to 140 of about 47,101 (300)

Meta-analysis of Gene Expression in Neurodegenerative Diseases Reveals Patterns in GABA Synthesis and Heat Stress Pathways [PDF]

arXiv, 2019
Neurodegenerative diseases are characterized as the progressive loss of neural cells, e.g. neurons, glial cells. Ageing, monogenic variations, viral infections, and many other factors are determined and speculated as causes for them. While many individual genes, such as APP for Alzheimer disease and HTT for Huntington disease, and biological pathways ...
arxiv  

Neuroarthropathy in Charcot-Marie-Tooth disease. [PDF]

, 1969
F E Bruckner, B. E. Kendall
openalex   +1 more source

Reduced Palmitoylation of SQSTM1/p62 in Huntington Disease Is Associated With Impaired Autophagy

The FASEB Journal, Volume 39, Issue 9, 15 May 2025.
Sequestosome 1 (SQSTM1)/p62 is a receptor for autophagy required to deliver damaged organelles and aggregated proteins to the lysosome for degradation. SQSTM1 undergoes palmitoylation, the reversible addition of the saturated fatty acid palmitate to cysteines.
F. Abrar, M. C. Davies, Y. Alshehabi, A. Kumar, A. Dang, Y. T. N. Nguyen, J. Collins, N. S. Caron, J. S. Choudhary, S. S. Sanders, M. O. Collins, M. R. Hayden, D. D. O. Martin   +12 more
wiley   +1 more source

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

Nature Communications, 2018
Charcot–Marie–Tooth disease 1A (CMT1A) is a peripheral demyelinating disease. Here, the authors demonstrate in a rodent model of CMT1A that Schwann cells have impairments in lipid biosynthesis, and that restoring lipids via diet can reverse the ...
R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda   +24 more
doaj   +1 more source

Fly model causes neurological rethink

eLife, 2013
A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.
Madhumala K Sadanandappa, Mani Ramaswami
doaj   +1 more source

Familial jaw cysts in Charcot-Marie-Tooth disease. [PDF]

, 1969
Michael Swift, Sidney L. Horowitz
openalex   +1 more source

Snap and Diagnose: An Advanced Multimodal Retrieval System for Identifying Plant Diseases in the Wild [PDF]

arXiv
Plant disease recognition is a critical task that ensures crop health and mitigates the damage caused by diseases. A handy tool that enables farmers to receive a diagnosis based on query pictures or the text description of suspicious plants is in high demand for initiating treatment before potential diseases spread further.
arxiv  

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

Charcot-Marie-Tooth Disease and Respiratory Failure [PDF]

, 1987
Eric L. Dyer, Alfred Callahan
openalex   +1 more source

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. [PDF]

, 1992
Alexis Brice, N Ravise, Giovanni Stévanin, Michel Gugenheim, P. Bouché, Christiane Penet, Y. Agid   +6 more
openalex   +1 more source