Results 171 to 180 of about 14,543 (225)

Arrayed dual-gRNA CRISPR screening platform for <i>C9orf72</i> repeat expansion excision in patient iPSCs. [PDF]

Mol Ther Adv
Arogundade OA, Lam KJK, Brown KA, Jain T, Issagholian-Lewin PO, Huang C, Rae-Hudson T, Briseno K, Wyman SK, Krishnappa N, George CA, O'Dare K, Wilson RHC, van Eijk P, Reed SH, Giannikopoulos P, Clelland CD.   +16 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

Psychiatric Symptomatology in Frontotemporal Dementia: Hallucinations and Delusions in C9orf72 versus Non-C9orf72 Patients

Frontotemporale dementie (FTD) omvat een spectrum van neurodegeneratieve aandoeningen, met klinische, pathologische en genetische heterogeniteit. Een mutatie in het C9orf72-gen is de meest voorkomende genetische oorzaak van FTD en wordt geassocieerd met psychiatrische symptomen.
openaire   +1 more source

First Korean Case of <i>C9orf72</i>-Related Amyotrophic Lateral Sclerosis With Progressive Supranuclear Palsy-Like Features. [PDF]

J Clin Neurol
Choi SJ, Park H, Sung JJ.
europepmc   +1 more source

Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina. [PDF]

Brain Pathol
Román KD, Ardohain CA, Surace EI, Mezmezian MB, Levy A, Baez Lovera A, Turizo C, Sorbara MG, Esnaola Y Rojas MM, Graviotto GH, Sevlever G, Allegri RF, Serrano CM, Magrath Guimet N.   +13 more
europepmc   +1 more source

Hypothesis-free evaluation of circulating metabolome provides cell-specific insights regarding the role of energy substrate availability in amyotrophic lateral sclerosis. [PDF]

BMC Med
Alhathli E, Cooper-Knock J, Girach ZU, Julian TH, Bauer C, Timmons HO, Ward BD, Walker H, Azzouz M, Elrayess MA, Al-Khelaifi F, Yousri NA, Gul A, Kelsall A, Moll T, Harvey C, Gornall S, Wong K, Allen SP, Strange A, Shaw PJ.   +20 more
europepmc   +1 more source

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias. [PDF]

Brain Commun
Scriba CK, Folland C, Black M, Baker J, Abromeit D, Saw S, Chiew MT, Gooding R, Laing NG, Davis MR, Ravenscroft G.   +10 more
europepmc   +1 more source

Modeling ALS in a dish: how organoids are transforming research. [PDF]

Front Med (Lausanne)
Galluzzi G, Ruocco G, Fornetti E, Genovese I.   +3 more
europepmc   +1 more source