Results 171 to 180 of about 9,755 (237)

A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1

Tsuyoshi Aihara, Yuichi Abe, Atsushi Nishioka, Itaru Hayakawa   +3 more
openalex   +1 more source

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis [PDF]

, 2006
M. J. Barceló, Laura Alías, Lídia Caselles, Yolanda Robles, Montserrat Baiget, Eduardo F. Tizzano   +5 more
openalex   +1 more source

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational study. [PDF]

EClinicalMedicine
Cicala G, Capasso A, Villa M, Coratti G, Arpaia C, Agosto C, Corti S, Ricci F, Bruno C, Matesanz S, Gross B, Mendoza DG, Kuntz N, Kirschner J, Ziegler A, Servais L, Asselman FL, van der Pol L, Castiglioni C, Nascimiento A, Tizzano EF, Mendonça RH, Zanoteli E, Munot P, Scoto M, Finkel R, Pane M, Tiziano FD, Mercuri E, ITASMAc group, International SMA group.   +30 more
europepmc   +1 more source

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High-Resolution Ultrasonographic Study. [PDF]

Brain Behav
Wurster J, West E, Meier S, Bürke NP, Jansen L, Broser PJ.   +5 more
europepmc   +1 more source

Régulation transcriptionnelle des gènes SMN1 et SMN2 durant la différenciation cellulaire

, 2001
Desprez, Delphine
openalex   +1 more source

Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support. [PDF]

Clin Case Rep
Camelo-Filho AE, Jovino RM, Tomaz BS, Nóbrega PR, Holanda MA.   +4 more
europepmc   +1 more source

Assessment of Genetics Mutation of SMN1, SMA And SMN2 Genes In Spinal Atrophy-Muscle

, 2017
Somayeh Asadi
openalex   +1 more source

Versatile CRISPR-Cas Tools for Gene Regulation in Zebrafish via an Enhanced Q Binary System. [PDF]

Adv Sci (Weinh)
Shi M, Ge W, Li C, Liu B, Deng X, Liu C, Zheng M, Zhang P, Li L, Guo Y, Han Y, Yang Y, Yu YV, Jin YN.   +13 more
europepmc   +1 more source

Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in Smn^2B/- spinal muscular atrophy mice. [PDF]

Sci Rep
Sutton ER, McCallion E, Hoolachan JM, Çetin Ö, Pacheco-Torres P, Rashid S, Bouhmidi S, Haynes K, Churchill L, Scaife T, Chaytow H, Huang YT, Duguez S, Schneider BL, Gillingwater TH, Dimitriadi M, Bowerman M.   +16 more
europepmc   +1 more source

Integrative analysis of transcriptomics and drug-target networks identifies SMN1 as a novel biomarker and therapeutic target for amyotrophic lateral sclerosis. [PDF]

J Genet Eng Biotechnol
Eshak D, Arumugam M.
europepmc   +1 more source