Results 21 to 30 of about 121,688 (385)

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

Orphanet Journal of Rare Diseases, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA types. We report
A. Łusakowska, Adrianna Wójcik, A. Frączek, Karolina Aragon-Gawińska, A. Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, K. Milczarek, D. Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, A. Kostera-Pruszczyk   +12 more
semanticscholar   +1 more source

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first ...
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap   +6 more
doaj   +1 more source

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies

International Journal of Molecular Sciences, 2023
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most common neurodegenerative disease in childhood with an incidence of approximately 1 in ...
Ilaria Angilletta, R. Ferrante, Roberta Giansante, L. Lombardi, Alessandra Babore, Anastasia Dell’Elice, Elisa Alessandrelli, Stefania Notarangelo, Marianna Ranaudo, Claudia Palmarini, Vincenzo de Laurenzi, L. Stuppia, C. Rossi   +12 more
semanticscholar   +1 more source

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape

International Journal of Molecular Sciences, 2023
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is characterized by progressive muscle atrophy (degeneration), including skeletal muscles in charge of the ability to move.
Aleksei S. Ponomarev, D. Chulpanova, Lina M. Yanygina, V. Solovyeva, A. Rizvanov   +4 more
semanticscholar   +1 more source

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2023
Background: Spinal muscular atrophy (SMA) results from a loss-of-function mutation in the SMN1 gene. SMA patients suffer progressive motor disability, although no intellectual impairments have been described.
M. Ngawa, Fabian Dal Farra, Andrei-Dan Marinescu, L. Servais   +3 more
semanticscholar   +1 more source

Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta‐analysis

Journal of Paediatrics and Child Health, 2023
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. Our systematic review and meta‐analysis aims to explore the efficacy and safety of onasemnogene abeparvovec in SMA patients.
Dongling Yang, Yiyan Ruan, Yuyi Chen
semanticscholar   +1 more source

Use of Creatine Monohydrate in MDX Mice: Morphometric and Stereological Analysis of the Diaphragm [PDF]

Modern Medicine, 2023
Duchenne muscular dystrophy is a genetic disease that is clinically manifested by progressive muscle atrophy, followed by loss of strength, motor coordination and functional impairment.
Victor Augusto Ramos FERNANDES, Amilton IATECOLA, Marcelo Rodrigues da CUNHA, Giovanna Camarotto PATAH, Dante GUARNIER, João Vitor Monteiro de OLIVEIRA, Maria Carolina DELFORNO, Giovanna Cavalcanti BANOV, Mariana SHMAYEV, Julia Valencio Alves LEANDRO, Kadu Ferreira Gonçalves TEIXEIRA, Eduardo José CALDEIRA   +11 more
doaj   +1 more source

Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples

Biomedicines, 2023
Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations or deletions in SMN1 that lead to progressive death of alpha motor neurons, ultimately leading to severe muscle weakness and atrophy, as well as premature death in the ...
M. Meneri, E. Abati, Delia Gagliardi, I. Faravelli, V. Parente, A. Ratti, F. Verde, N. Ticozzi, G. Comi, L. Ottoboni, Stefania Corti   +10 more
semanticscholar   +1 more source