Associated Papers
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 2025
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Miller CR et al.
Human Mutation, 2023
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L et al.
Human Mutation, 2021
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Wirth B et al.
Annual Review of Genomics and Human Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
Serra-Juhe C et al.
European Journal of Human Genetics : Ejhg, 2019
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
Prior TW et al.
Current Protocols in Human Genetics, 2016
Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.
Boza-Morán MG et al.
Scientific Reports, 2015
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL et al.
Genetics and Molecular Research : Gmr, 2013
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
Also-Rallo E et al.
European Journal of Human Genetics : Ejhg, 2011
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Bernal S et al.
Neuromuscular Disorders : Nmd, 2011
[Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human Genetics, 2009
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.
Kotani T et al.
Journal of Neurology, 2007
Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.
Barceló MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Rodríguez-Soriano J et al.
Pediatric Nephrology (berlin, Germany), 2005
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
Cuscó I et al.
Neurology, 2004
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I et al.
Human Mutation, 2003
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002