Results 181 to 190 of about 14,543 (225)

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

Exosome-like nanovesicles from acerola for CRISPR-Cas9 ribonucleoprotein delivery to the central nervous system. [PDF]

Mol Ther Nucleic Acids
Nagamatsu Y, Umezu T, Hong T, Niijima T, Ohno SI, Harada Y, Kanekura K, Ochiya T, Kuroda M.   +8 more
europepmc   +1 more source

Therapeutic frontiers in ALS: iPSC-based drug discovery, cell therapy, and gene therapy-Advances through 2026. [PDF]

Regen Ther
Morimoto S, Kato C, Takahashi S, Okano H.   +3 more
europepmc   +1 more source

Population-scale repeat expansions elucidate disease risk and brain atrophy. [PDF]

Nature
Pounraja VK, Sul JH, Herman J, O'Keeffe S, Rajagopal V, Bai X, Kessler MD, Parikshak N, Landheer K, Zhang X, Yu S, Zhang L, LeBlanc MG, Rico-Varela J, Grau F, Wolf S, Sundaramoorthy S, Sepehrband F, Stahl EA, Huo Y, Ahmed M, Croll S, GHS-RGC DiscovEHR Collaboration, Mayo-RGC Project Generation, Penn Medicine BioBank, Salerno W, Overton JD, Marchini J, Reid J, Lotta LA, Baras A, Regeneron Genetics Center, Abecasis GR, Coppola G, Gelfman S.   +34 more
europepmc   +1 more source

CHI3L1 (YKL-40) and Chit-1 expressing glia in the white matter of ALS, FTLD and AD: correlations to pathology and disease duration. [PDF]

BMJ Neurol Open
Tran CM, Reddy N, Thomas JK, Venugopal V, Bowser R.   +4 more
europepmc   +1 more source

Chronic Inflammatory Demyelinating Polyradiculoneuropathy-Like Neuropathy in Heterozygous <i>C9orf72</i> Mutation: A Case Report. [PDF]

Case Rep Neurol
Loser V, Afanasiev V, Vicino A, Théaudin M.   +3 more
europepmc   +1 more source

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 [PDF]

Acta Neuropathologica, 2015
The loss of chromosome 9 open reading frame 72 (C9ORF72) expression, associated with C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 transcript variants have been described thus far; the GGGGCC repeat is located between two non-coding exons (exon 1a and exon 1b) in the promoter region of transcript variant 2 (NM_018325.4)
Marka van Blitterswijk, Tania F Gendron, Matthew C Baker   +2 more
exaly   +9 more sources

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia [PDF]

Brain, 2017
A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), however, the precise molecular mechanism by which the C9orf72 hexanucleotide ...
Yoshitsugu Aoki, Raquel Manzano, Yi Lee   +2 more
exaly   +3 more sources