Results 81 to 90 of about 9,755 (237)

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

SMN1 Deletions Among Singaporean Patients With Spinal Muscular Atrophy

Annals of the Academy of Medicine, Singapore, 2005
Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a ...
A H M, Lai, E S, Tan, H Y, Law, C S, Yoon, I S L, Ng   +4 more
openaire   +2 more sources

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Molecular and Cellular Probes, 2010
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused in about 95% of SMA patients by homozygous deletion of the survival motor neuron 1 (SMN1) gene or its conversion to the highly homologous SMN2 gene. In the majority of cases, disease severity correlates inversely with increased SMN2 copy number.
PASSON N, DUBSKY DE WITTENAU G, JURMAN I, RADOVIC S, BREGANT E, MOLINIS C, DAMANTE, Giuseppe, LONIGRO, Incoronata   +7 more
openaire   +3 more sources

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Perioperative Management for Patients With Spinal Muscular Atrophy Undergoing Scoliosis Surgery: A Single‐Center Retrospective Study

Orthopaedic Surgery, EarlyView.
This largest Asian case series confirms that posterior spinal fusion for SMA scoliosis is safe and effective despite severe deformity and markedly impaired pulmonary function. Meticulous multidisciplinary care, including advanced airway planning, hemodynamic support, blood management, and proactive electrolyte correction, is critical to optimizing ...
Ai Hu, Xiuhua Zhang, Lulu Ma, Haisong Lu, Yulei Dong, Weiyun Chen, Yuguang Huang, Jianxiong Shen   +7 more
wiley   +1 more source

SMN1 genotyping and haplotype analysis in SZ-SMA5 HESCs.

, 2015
Homozygous loss of SMN1 was assessed by (A) PCR amplification of exon 7 with a mismatch forward primer that creates a DraI restriction site in SMN2, but not in SMN1.
Yaara Cohen-Hadad (815064), Sharon Zeligson (287853), Paul Renbaum (778512), Ephrat Levy-Lahad (778517), Oshrat Schonberger (815066), Talia Eldar-Geva (791998), Gheona Altarescu (539), Rachel Eiges (216104), Silvina Epsztejn-Litman (815063), Shira Aharoni (815065)   +9 more
core   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source