Results 141 to 150 of about 21,720 (221)

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia [PDF]

, 2016
De Belleroche, JS
core   +1 more source

Pleiotropic effects of variants in dementia genes in Parkinson disease [PDF]

, 2018
Benitez, Bruno A, Budde, John, Cooper, Breanna, Cruchaga, Carlos, David, Albert A, Diez-Fairen, Monica, Dube, Umber, Fernandez, Maria V, Ibanez, Laura, Ortega-Cubero, Sara, Pastor, Pau, Perlmutter, Joel S   +11 more
core   +2 more sources

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

C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons. [PDF]

Front Cell Neurosci
Lee JAK, Moutin C, Granger S, Roome K, Shaw A, Allen SP, Ferraiuolo L, Shaw PJ, Mortiboys H.   +8 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

Short tandem repeat expansions in patients with neurodegenerative dementia. [PDF]

EBioMedicine
Zhu Y, Xiao X, Liu Y, Wang Z, Luo T, Xu T, Yang Q, Hao X, Zhang C, Zhang S, Luo S, Zhou Y, Liao X, Tian Y, Weng L, Fang L, Tang B, Jiao B, Li J, Shen L.   +19 more
europepmc   +1 more source

C9orf72 in myeloid cells prevents an inflammatory response to microbial glycogen. [PDF]

Cell Rep
McCourt B, Lemr K, Chakrabarti S, Woidke E, Ramaiah S, Singh V, Sangwan N, Brown JM, Cominelli F, Rodriguez-Palacios A, Burberry A.   +10 more
europepmc   +1 more source

PU.1 restores microglial dysfunction caused by C9ORF72 repeat expansions in neural organoids. [PDF]

Brain
Ljubikj T, Mars MZ, van der Geest AT, Jakobs CE, Bessler N, Donega V, van den Oetelaar XPRM, de Wit M, Pasterkamp RJ.   +8 more
europepmc   +1 more source

MicroRNA profiling in post-mortem spinal cord of C9ORF72-related ALS patients reveals molecular pathways involved in motor neuron degeneration. [PDF]

Front Neurosci
Farinazzo G, Giagnorio E, Marcuzzo M, Cattaneo M, Malacarne C, Cavalcante P, Bonanno S, Maderna E, Pensato V, Gellera C, Marucci G, Mazzetti S, Salvi E, Lauria G, Marcuzzo S.   +14 more
europepmc   +1 more source

Aberrant CDK4/6-driven cell-cycle reentry drives neuronal loss and defines a therapeutic target in C9orf72 ALS/FTD. [PDF]

iScience
Lian L, Robinson H, Daniels N, Prieto GA, Poplawski GHD, Lopez-Gonzalez R.   +5 more
europepmc   +1 more source