Results 31 to 40 of about 9,755 (237)

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

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts [PDF]

Frontiers in Genetics
IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other.
Sara L. Cook, Christian Stout, Lindsey Kirkeby, Noemi Vidal-Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel Anderson, Nathan P. Staff   +9 more
doaj   +2 more sources

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

neurogenetics, 2021
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutations of survival motor neuron 1 (SMN1) but retention of one or more copies of the paralog SMN2. Within
Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach   +6 more
openaire   +2 more sources

Unaffected patients with a homozygous absence of the SMN1 gene [PDF]

European Journal of Human Genetics, 2008
In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and 3b) and a 25-years-old asymptomatic sister. All of them have four SMN2 copies.
Maria, Jedrzejowska, Janina, Borkowska, Janusz, Zimowski, Anna, Kostera-Pruszczyk, Michał, Milewski, Marta, Jurek, Danuta, Sielska, Ewa, Kostyk, Walenty, Nyka, Jacek, Zaremba, Irena, Hausmanowa-Petrusewicz   +10 more
openaire   +2 more sources

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review. [PDF]

BMC Neurol
Xi H, He W, Jiang H, Xie W, Yang Y, Yang Y, Diao K, Yang W, Li H.   +8 more
europepmc   +2 more sources

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

Frontiers in Cellular Neuroscience, 2023
The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 SMA. The patient
Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan   +8 more
doaj   +1 more source

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

Global Medical Genetics, 2023
This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey.
Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan   +9 more
doaj   +1 more source

Исследование особенностей генетических изменений гена SMN1 при спинальной мышечной атрофии 5q

, 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
А. В. Диль, A. V. Dil, С. В. Лапин, В. Д. Назаров, В. Л. Эмануэль, V. D. Nazarov, S. V. Lapin, D. V. Sidorenko, Д. В. Сидоренко, V. L. Emanuel   +9 more
core   +1 more source

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Frontiers in Neurology, 2021
Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment.
B. Monica Bowen, Rebecca Truty, Swaroop Aradhya, Sara L. Bristow, Britt A. Johnson, Ana Morales, Christopher A. Tan, M. Jody Westbrook, Thomas L. Winder, Juan C. Chavez   +9 more
doaj   +1 more source

Quantitative Analysis ofSMN1Gene and Estimation ofSMN1Deletion Carrier Frequency in Korean Population based on Real-Time PCR [PDF]

Journal of Korean Medical Science, 2004
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection.
Lee, Tae-Mi, Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Koo, Soo Kyung, Jo, Inho, Kang, Seongman, Jung, Sung-Chul   +7 more
openaire   +2 more sources