Results 181 to 190 of about 21,720 (221)

Loss of Y chromosome and its implications in male amyotrophic lateral sclerosis: insights from the UK Biobank. [PDF]

BMC Med
Su WM, Duan QQ, He SY, Liu RY, Wen XJ, Zhang N, Chen T, Cao B, Chen YP.   +8 more
europepmc   +1 more source

Autoimmune response to C9orf72 protein in amyotrophic lateral sclerosis. [PDF]

Nature
Michaelis T, Lindestam Arlehamn CS, Johansson E, Frazier A, Williams GP, Berry JD, Cudkowicz M, Goyal NA, Fournier C, Snyder A, Kwan JY, Crook J, Phillips EJ, Mallal SA, Ravits J, Marder KS, Sidney J, Sulzer D, Sette A.   +18 more
europepmc   +1 more source

Brain metabolic connectivity in ALS due to C9ORF72 hexanucleotide expansion: a [¹⁸F]FDG-PET study. [PDF]

Eur J Nucl Med Mol Imaging
Canosa A, Callegaro S, Manera U, Vasta R, Cabras S, Di Pede F, De Mattei F, Palumbo F, Iazzolino B, Dei Giudici A, Matteoni E, Zocco G, Minerva E, Maccabeo A, Pellegrino G, Pascariu D, Grassano M, Piombino P, Testa M, Polverari G, Fuda G, Merulla I, Casale F, Gallone S, Moglia C, Calvo A, Pagani M, Chiò A.   +27 more
europepmc   +1 more source

CRISPR/Cas9-mediated generation of a de novo C9ORF72 knock-in isogenic iPSC cell bank to model ALS and FTD

O’Brien NL, Hedges E, Nair RR, Cammack AJ, Carcolé M, Vaizoglu D, Tacconelli S, Sutherland K, Fisher-Ward CL, Awan AR, Topp S, Iacoangeli A, Isaacs AM, Cunningham TJ, Ruepp M, Mizielinska S.   +15 more
europepmc   +1 more source

Genetic and Clinical Insights into ALS/FTD: Profiling a Rare Cohort to Explore Spectrum Heterogeneity. [PDF]

J Pers Med
Marjanovic A, Stefanova E, Viric V, Palibrk A, Mandić Stojmenović G, Stojković T, Stojadinovic L, Basta I, Novakovic I, Stević Z, Jankovic M.   +10 more
europepmc   +1 more source

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis. [PDF]

Brain Commun
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN, Project MinE ALS Sequencing Consortium , Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH.   +19 more
europepmc   +1 more source

Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects. [PDF]

Cell Death Dis
Woo E, Tasnim F, Kawamata H, Manfredi G, Konrad C.   +4 more
europepmc   +1 more source

Correction for Sachdev et al., Reversal of <i>C9orf72</i> mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source