A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy [PDF]
, 2003 Umrao R. Monani +11 more
openalex +1 more source
Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy
CNS Drugs, 2022 Hannah A. Blair
semanticscholar +1 more source
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 +10 more
wiley +1 more source
PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)
Мать и дитя в Кузбассе, 2020 Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова +6 more
doaj
ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets [PDF]
, 2014 Emmanuelle Coque +2 more
openalex +1 more source
General issues of spinal muscular atrophy (scientific review). Etiology, clinical features, approaches in rehabilitation and orthopedic treatment [PDF]
, 2022 Gennady N. Ponomarenko +2 more
openalex +1 more source
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 +3 more
wiley +1 more source
Defining Meaningful Outcomes for Patients with Spinal Muscular Atrophy in the Era of Gene Therapy [PDF]
, 2023 Jana Haberlová +3 more
openalex +1 more source
Annals of Neurology, EarlyView.Objective We aimed to evaluate the clinical utility of serum neurofilament light chain (sNfL) and cardiac troponin T (cTnT) in amyotrophic lateral sclerosis (ALS) and assess whether their combination improves diagnostic accuracy. Methods We retrospectively analyzed 293 ALS patients, 85 neurodegenerative disease controls, and 29 healthy controls.
Paula Lindenborn +6 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