Results 121 to 130 of about 9,658 (171)

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

<i>NEK1</i> variants and reduced protein levels in Chinese ALS patients: a descriptive study. [PDF]

Front Aging Neurosci
Chen X, Mo Y, Jiang H.
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

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

<i>C9orf72</i> poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia. [PDF]

Brain Commun
Milioto C, Carcolé M, Zanovello M, Ahmed M, Nirujogi RS, Biggs D, Roberts MJ, Schweers K, Cammack AJ, Marchi PM, Katona E, Glaria I, Santos A, Devoy A, Fratta P, Alessi DR, Davies B, Greensmith L, Fisher EMC, Isaacs AM.   +19 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

Integrative Multi-Omics Mendelian Randomization Highlights Causal Autophagy-Related Genes for Amyotrophic Lateral Sclerosis. [PDF]

Brain Behav
Jiang Z, Ren YL, Gu XJ, Su WM, Duan QQ, Yin KF, Cao B, Li JY, Yan B, Chen YP.   +9 more
europepmc   +1 more source

Amyotrophic lateral sclerosis and chronic inflammatory demyelinating polyneuropathy coexistence in a patient with a C9orf72 variant: case report. [PDF]

Front Dement
File C, Price AM, Ahmad R, Shanina E, Sun RL.   +4 more
europepmc   +1 more source

Cumulative Incidence in Monogenic Alzheimer's Disease and Frontotemporal Dementia: Gene-Gene Interaction Effect. [PDF]

Int J Mol Sci
Geviti A, Pagano L, Grassi M, Saraceno C, Facconi A, Fostinelli S, Laganà V, Giacomucci G, Cotelli MS, Cantoni V, Ingannato A, Bagnoli S, Bessi V, Longobardi A, Russotto A, Bellini S, Lagrotteria D, Paparazzo E, Binetti G, Montesanto A, Nacmias B, Maletta R, Borroni B, Ghidoni R.   +23 more
europepmc   +1 more source

Poly-GR promotes ferroptosis-associated vulnerability in C9orf72-ALS. [PDF]

Cell Biosci
Lin CY, Hsieh WC, Wang SM.
europepmc   +1 more source