Results 131 to 140 of about 9,658 (171)

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

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

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

Blocking RAN translation without altering repeat RNAs rescues <i>C9ORF72</i>-related ALS and FTD phenotypes. [PDF]

Science
Jiang X, Schaeffer L, Patni D, Russo T, Lee CZ, Aguilar C, Marques C, Jansen-West K, Hruska-Plochan M, Ray-Soni A, Lim SM, Held A, Yue M, Castellanos Otero P, Aryal S, Beaussant HDAM, Basu H, Takakuwa H, Daughrity LM, Ramesh N, Da Costa P, A A Quadros AR, Nolan M, Reyes CJF, Wheeler H, Moran LC, Griesman G, Wymann B, Trombetta BA, Lopez-De-Silanes ES, Canori M, Krishnan G, Vieira Souza Da Silva Y, Eriani G, Albers MW, Arnold SE, Song Y, Jain A, Chiu IM, Zhang YJ, Gao FB, Wainger BJ, Polymenidou M, Petrucelli L, Martin F, Lagier-Tourenne C.   +45 more
europepmc   +1 more source

Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration. [PDF]

Nat Genet
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Bae M, Zhao B, Kim J, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne C, Lee EA, Walsh CA.   +23 more
europepmc   +1 more source

Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis. [PDF]

Acta Neuropathol Commun
Harper NS, Sharpe JL, Speranza J, Gulia R, Chen JX, Allen SP, Atwal MS, Pickering-Brown S, Livesey MR, Bennett CL, Prokop A, La Spada AR, West RJH.   +12 more
europepmc   +1 more source

Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in <i>C9orf72</i> Amyotrophic Lateral Sclerosis via ADA. [PDF]

Int J Mol Sci
Hall B, Castelli L, Higginbottom A, He J, Zou LN, Walker H, Yagüe-Capilla M, Wong KE, Burrows DJ, George J, Hamer K, Tanner JM, Kyrgiou-Balli E, Ross R, Garland H, Tonkiss E, George R, Webster CP, Smith EF, Timmons HO, Allsop J, Stefanidis N, Ward BD, Lin YH, Highley JR, Azzouz M, West RJH, Rudd SG, Vos KJ, Shaw PJ, Hautbergue GM, Allen SP.   +31 more
europepmc   +1 more source

Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change. [PDF]

Neurol Genet
Groeneveld J, de Boer SCM, Krudop W, Ozhegov G, Hulsman M, Dols A, Kerssens CJ, Schouws S, Barkhof F, Holstege H, Pijnenburg YAL, Van Der Lee SJ, Duits FH.   +12 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