Results 51 to 60 of about 9,755 (237)

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

Chinese Medical Journal, 2018
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.
Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin, Hong Wang, Fang Song   +6 more
doaj   +1 more source

A new line method; A direct test in spinal muscular atrophy screening for DBS

Molecular Genetics & Genomic Medicine, 2023
Background Nucleic acid‐based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high‐throughputs in SMA to detect a
Ayhan Kubar, Sehime Gülsüm Temel, Serdar Beken, Gizem Onder, Ozden Hatirnaz, Ayse Korkmaz, Yasemin Alanay, Ugur Ozbek, Sebnem Ozemri Sag, Mahmut Cerkez Ergoren, Elif Kubar, Candan Zeynep Sonmezalp, Ozlem Doğan   +12 more
doaj   +1 more source

Detection of SMN1 loss with PCR-based screening test

Bulletin of Russian State Medical University, 2023
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive skeletal muscular weakness and atrophy. The newborn screening for spinal muscular atrophy should define all molecular forms of SMA. The aim of this study is to compare a PCR-based test for detection of homozygous SMN1 loss with multiple ligation probe ...
VD Nazarov, CC Cherebillo, SV Lapin, DV Sidorenko, YA Devyatkina, AC Musonova, TV Petrova, AI Nikiforova, AV Ivanova   +8 more
openaire   +1 more source

Protein replacement of endogenous SMN1 protein using advanced snoMEN.

, 2016
(a)-(c) Structures are shown for targeted endogenous SMN1 protein replacement plasmid, using either U47snoMEN (a: pGFP-SMN1 U47snoMEN-PR), or SMN1 protein replacement plasmid using HBII-180C snoMEN (b: pGFP-SMN1 HBCsnoMENv1-PR, c: pGFP-SMN1 HBCsnoMENv2 ...
Motoharu Ono (259551), Sonia Rocha (231588), Brian Ortmann (681260), Michelle S. Scott (259543), Kayo Yamada (407407), Vackar Afzal (800170), Angus I. Lamond (13065), John Biddlestone (681258), Dalila Bensaddek (800171), Sharon Mudie (231581), Vincent Boivin (2634514)   +10 more
core   +1 more source

SMN1 and SMN2 copy numbers in samples with and without SMN1/2Δ7–8.

, 2019
SMN1 and SMN2 copy numbers in samples with and without SMN1/2Δ7–8.
Amanda G. Mason (482141), Syamiroh Sulchan (7037498), Reinier Snetselaar (4720644), Raymon Vijzelaar (7037471), Marrit Rinsma (7037477), Rizkat Yilmaz (7037489), Marinka Zegers (7037480), Sylvia Lens (7037495), Martijn Clausen (7037474), Romy Kuilboer (7037492), Jan Schouten (21389), Naomi Molleman (7037483), Renske Boschloo (7037486)   +12 more
core   +1 more source

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

BMC Medical Genetics, 2020
Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been
Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zhao   +3 more
doaj   +1 more source

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Molecular Genetics & Genomic Medicine, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik   +7 more
doaj   +1 more source

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International Journal of Neonatal Screening, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman   +13 more
doaj   +1 more source

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene [PDF]

European Journal of Human Genetics, 2004
Infantile spinal muscular atrophy (SMA) is a common autosomal recessive disease with a high demand for carrier testing. The disease is caused by homozygous deletions of the survival motor neuron (SMN)1 gene on chromosome 5q13 in more than 90% of cases. Meanwhile, several reliable quantitative methods for carrier detection in the general population have
Thomas, Eggermann, Klaus, Zerres, Dirk, Anhuf, Dieter, Kotzot, Christine, Fauth, Sabine, Rudnik-Schöneborn   +5 more
openaire   +2 more sources

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis [PDF]

, 2021
ObjectiveTo assess the association between copy number (CN) variation in the survival motor neuron (SMN) locus and multifocal motor neuropathy (MMN), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS) susceptibility and to determine ...
Molleman, Naomi N., Snetselaar, Reinier, Van Den Berg, Leonard H., Bos, Jeroen W., Wadman, Renske I., Zegers, Marinka, Groen, Ewout J.N., Curial, Chantall A.D., Van Der Pol, W. Ludo, Van Vught, Paul W.J., Vijzelaar, Raymon   +10 more
core