Results 21 to 30 of about 12,639 (247)

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

PLOS ONE, 2016
The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness.Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included ...
Mohamed‐Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Béhin, Raquel Guimarães‐Costa, François Salachas, Vincent Meininger, Gaëlle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre‐François Pradat   +12 more
openalex   +5 more sources

SMN1 dosage analysis in spinal muscular atrophy from India [PDF]

BMC Medical Genetics, 2005
Background Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India ...
Leonard Debra GB, Rennert Hanna, Kesari Akanchha, Mittal Balraj   +3 more
doaj   +3 more sources

Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]

Iranian Journal of Neonatology, 2022
Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe, Mohammed Radouani, Ilham Elouardighi, Asmaa Dibi, Amina Barkat   +4 more
doaj   +1 more source

Spinal muscular atrophy - onasemnogene abeparvovec and other therapeutic options [PDF]

Farmacja Polska, 2020
Spinal muscular atrophy (SMA) is a neuromuscular disorder that results in the loss of motor neurons. SMA is caused by mutations in the SMN1 gene, leading to the decreased synthesis of the SMN protein, necessary for motor neuron survival. In the past, SMA
Aleksandra Alicja Majchrzak-Celińska, Anna Warych, Mikołaj Szoszkiewicz   +2 more
doaj   +1 more source

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies [PDF]

Brain, 2014
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13.
Koen Peeters, Teodora Chamova, Albena Jordanova   +2 more
openalex   +4 more sources

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript

Frontiers in Neurology, 2023
IntroductionSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the SMN1 gene. The majority of SMA patients harbor a homozygous deletion of SMN1 exon 7 (95%).
Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, Anthi Georghiou, Paschalis Nicolaou, George Tanteles, Kyproula Christodoulou   +6 more
doaj   +1 more source

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy. [PDF]

Neurol Genet
Rimoldi M, Magri F, Meneri M, Gagliardi D, Ada Sansone V, Albamonte E, Ottoboni L, Comi GP, Mercuri E, Tiziano FD, Ronchi D, Corti S.   +11 more
europepmc   +2 more sources

SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data [PDF]

Human Mutation, 2020
AbstractSpinal Muscular Atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion ofSMN1, while the vast majority of SMA carriers present only a singleSMN1copy. The sequence similarity betweenSMN1andSMN2, and the complexity of the SMN locus makes the estimation of ...
Daniel López-López, Carlos Loucera, Rosario Carmona, Virginia Aquino, Josefa Salgado, Sara Pasalodos, Clara Sá-Miranda, Ángel Alonso, Joaquı́n Dopazo   +8 more
openalex   +5 more sources

Characteristics of genetic changes in the SMN1 gene in spinal muscular atrophy 5q

Нервно-мышечные болезни, 2022
Background. Proximal spinal muscular atrophy 5q (5q‑SMA) is one of the most common neuromuscular diseases, which is caused by mutations of the SMN1 gene. Despite the fact that most studies consider SMN1 “deletion” as the most common cause of 5q‑SMA, gene
A. V. Dil, V. D. Nazarov, D. V. Sidorenko, S. V. Lapin, V. L. Emanuel   +4 more
doaj   +1 more source

SMN1 gene duplications are associated with sporadic ALS [PDF]

Neurology, 2012
To investigate the role of SMN1 and SMN2 copy number variation and point mutations in amyotrophic lateral sclerosis (ALS) pathogenesis in a large population.We conducted a genetic association study including 847 patients with ALS and 984 controls. We used multiplexed ligation-dependent probe amplification (MLPA) assays to determine SMN1 and SMN2 copy ...
H. M. Blauw, C. P. Barnes, P. W. J. van Vught, W. van Rheenen, M. Verheul, E. Cuppen, J. H. Veldink, L. H. van den Berg   +7 more
openaire   +3 more sources