Results 131 to 140 of about 14,543 (225)

C9orf72 Gene [PDF]

, 2020
openaire   +1 more source

C9ORF72 Is Pivotal to Maintain a Proper Protein Homeostasis in Mouse Skeletal Muscle

Cells
The C9ORF72 gene mutation is a major cause of amyotrophic lateral sclerosis (ALS). Disease mechanisms involve both loss of C9ORF72 protein function and toxic effects from hexanucleotide repeat expansions.
Francesca Sironi, Paola Parlanti, Cassandra Margotta, Jessica Cassarà, Valentina Bonetto, Caterina Bendotti, Massimo Tortarolo, Valentina Cappello   +7 more
doaj   +1 more source

C9ORF72: grabbing a tiger by the tail [PDF]

Acta Neuropathologica, 2014
openaire   +2 more sources

C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds [PDF]

Background and Objectives:A hexanucleotide repeat expansion in the noncoding region of the C9orf72 gene is the most common genetically identifiable cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in populations of European ...
Hengeveld, Jennifer C., McLaughlin, Russell L., Doherty, Mark A., Al Khleifat, Ahmad; id_orcid, Al-Chalabi, Ammar, Ryan, Marie, Costello, Emmet, Heverin, Mark, Hardiman, Orla   +8 more
core   +1 more source

Loss of C9orf72 impacts the peripheral neuromuscular system via immune dysregulation and accelerates the progression of amyotrophic lateral sclerosis in SOD-1 mutant mice

Journal of Neuroinflammation
Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder where neuromuscular health is central to disease progression.
Francesca Sironi, Massimo Tortarolo, Sabrina Mazzucchi, Laura Camporeale, Mattia Freschi, Eliana Arcadipane, Giulia De Giovanetti, Mami Kurosaki, Mineko Terao, Paola Parlanti, Paola Podini, Francesco Gentile, Valentina Bonetto, Valentina Cappello, Nilo Riva, Angelo Quattrini, Caterina Bendotti   +16 more
doaj   +1 more source

C9orf72 wt Allele [PDF]

, 2020
openaire   +1 more source

Global transcriptional changes across multiple isogenic <i>C9orf72</i> patient iPSC-derived neurons. [PDF]

iScience
Sreeram A, Baron DM, Brusati A, Stallworth K, Humphrey J, Landers JE.   +5 more
europepmc   +1 more source

Composite grey matter fingerprints for genetic frontotemporal dementia. [PDF]

J Neurol Neurosurg Psychiatry
Bouzigues A, Campana G, Joulot M, Gensollen N, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Sánchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonca A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Bertoux M, Lebouvier T, Ducharme S, Butler C, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Leber I, Zanusso G, Rohrer JD, Migliaccio R, GENetic Frontotemporal dementia Initiative (GENFI).   +37 more
europepmc   +1 more source

Uncharacterized Protein C9orf72 [PDF]

, 2020
openaire   +1 more source

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients [PDF]

A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known.
Loy, Clement T., Seijo Martínez, Manuel, Hallupp, Marianne, Dobson-Stone, Carol, Sue, Carolyn M., Brooks, William S., Razquin, Cristina, Reñé Ramírez, Ramon, Haan, Eric, Pastor, Pau, Campdelacreu i Fumadó, Jaume, Thompson, Elizabeth M., Schmoll, Birgit, Kwok, John B. J., Schofield, Peter R., Gascón-Bayarri, Jordi, Panegyres, Peter K., Volk, Alexander E.   +17 more
core