Results 141 to 150 of about 121,613 (384)

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy [PDF]

, 2002
S. Lefebvre
openalex   +1 more source

Onasemnogene Abeparvovec-xioi: World’s most expensive and approved therapy for spinal muscular atrophy

, 2021
Aslam Pathan, Vinod Bairagi
openalex   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Нервно-мышечные болезни, 2019
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology.
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova   +8 more
doaj   +1 more source

STING deficiency promotes motor recovery in mice following brachial plexus root avulsion

Animal Models and Experimental Medicine, EarlyView.
STING deficiency can increase the body weight, promote motor recovery, decrease MN death, inhibit pyroptosis and neuroinflammation, increase remyelination, and reduce the atrophy of the biceps brachii in mice with BPRA. Abstract Background Brachial plexus root avulsion (BPRA), a well‐known form of peripheral nerve injury, results in motor function loss
Yu Peng, Ying Zhang, Shenhui Yang, Lu He, Shuangxi Chen   +4 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis [PDF]

, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source

379. CNS Delivery of Human SMN1 by Adeno-Associated Virus Is Highly Efficacious in a Mouse Model of Spinal Muscular Atrophy Type I [PDF]

, 2009

openalex   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

The Influence of Trunk Muscle Strength on Walking Velocity in Elderly People with Sarcopenia [PDF]

, 2020
鈴鹿医療科学大
加藤 康太
core   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source