Results 71 to 80 of about 9,755 (237)

Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

Stem Cell Research, 2023
Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death.
Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu   +7 more
doaj   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Mutation scheme for SMN1 exon 7 library.

, 2019
The SMN1 mini-gene construct consists of exon 6, exon 7, and exon 8 with shortened introns 6 and 7. All possible silent mutations in exon 7 were created within the context of a sliding hexamer window.
Derrick J. Reynolds (2811250), Klemens J. Hertel (7460564)   +1 more
core   +1 more source

CLINICAL CASE OF KUGELBERG – WELANDER DISEASE (SPINAL MUSCULAR ATROPHY TYPE III)

Байкальский медицинский журнал
Background. Differential diagnosis of neuromuscular diseases is one of the most difficult areas in neurology. Molecular genetic research in these patients is of particular importance.
Yu. N. Bykov, Yu. N. Vasyliev, T. N. Zagvozkina, I. V. Anikina, T. A. Tarasova, S. V. Vasilkova, Yu. S. Plekhanova   +6 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

Molecular Genetics & Genomic Medicine, 2022
Background Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of
Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenarius   +3 more
doaj   +1 more source

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

Frontiers in Neurology, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness.
Katarzyna Kotulska, Aviva Fattal-Valevski, Jana Haberlova   +2 more
doaj   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, EarlyView.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva   +31 more
wiley   +1 more source

Figure 5D SC SMN1 suppression of mutant 5'SS by U1 snRNAs with SL3 mutations

, 2021
Quantitative data for levels of SMN1 exon 7 inclusion, used for ...
Ian Eperon (11020953), Frederic H.-T. Allain (2624308)   +1 more
core   +1 more source