Results 141 to 150 of about 14,543 (225)

Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in <i>C9ORF72</i>-related neurodegeneration. [PDF]

Front Aging Neurosci
Hu Z, Wan JJ, Yan QQ, Fan Y, Liu J.
europepmc   +1 more source

Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary. [PDF]

Mol Med
Nagy ZF, Géresi A, Grosz Z, Trombitás B, Pál M, Nagy D, Salamon A, Balicza P, Dézsi L, Klivényi P, Széll M, Molnár MJ.   +11 more
europepmc   +1 more source

Acamprosate for C9orf72 Frontotemporal Dementia

C9orf72 hexanucleotide repeat expansions cause frontotemporal dementia and ALS through glutamate excitotoxicity and RNA toxicity. Acamprosate modulates glutamate signaling through NMDA receptor antagonism and GABA enhancement, potentially reducing excitotoxic neuronal death in C9orf72-related disease.
openaire   +1 more source

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion. [PDF]

Acta Neuropathol
Miki T, De Bertier S, Amador MD, Nicolas M, Guissart C, Deret M, Teyssou E, Muratet F, Bohl D, Lobsiger CS, Boillée S, Esselin F, Salachas F, Millecamps S, Seilhean D.   +14 more
europepmc   +1 more source

Innate immune crosstalk in ALS/FTD pathogenesis. [PDF]

Cell Insight
Shu X, Yu X, Xu P, Wang A.
europepmc   +1 more source

From Mutation to Manifestation: Penetrance in Amyotrophic Lateral Sclerosis. [PDF]

Genes (Basel)
Richard E, Al-Hajj Vourc'h S, Marouillat S, Beltran S, Blasco H, Corcia P, Vourc'h P.   +6 more
europepmc   +1 more source

Disrupted sleep-wake cycles and circadian rhythms in a <i>Drosophila</i> model of <i>C9orf72</i>-FTD. [PDF]

Front Neurosci
Eby KE, Shields BR, DelNegro I, Morley S, Snodgrass-Belt PA, Tipping M.   +5 more
europepmc   +1 more source

Hyperoside protects against poly-GR-mediated neurodegeneration via regulation of mitochondrial fission and oxidative stress in C9orf72-associated ALS. [PDF]

Chin Med
Hsieh WC, Lin CY, Wu HC, Weng EF, Wang SM.   +4 more
europepmc   +1 more source

Diagnostic value of genetic testing in chorea: a retrospective monocentric study. [PDF]

J Neurol
Fodor TA, Milenkovic I, Zimprich A, Brücke C.   +3 more
europepmc   +1 more source

Linking primary cilia defects to the "Big 3" neurodegenerative diseases - causal, consequential, or correlative? [PDF]

EXCLI J
Hor CHH, Tang BL.
europepmc   +1 more source