Associated Papers
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Stringer BW et al.
Embo Molecular Medicine, 2026
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
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
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies.
Morse R et al.
Neuromolecular Medicine, 2011
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
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
Targeting of SMN to Cajal bodies is mediated by self-association.
Morse R et al.
Human Molecular Genetics, 2007
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E et al.
Neuromuscular Disorders : Nmd, 2007
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
Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.
Hua Y et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.
Zou J et al.
The Journal of Biological Chemistry, 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
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
Lefebvre S et al.
Human Molecular Genetics, 2002
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
Young PJ et al.
Human Molecular Genetics, 2000
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B et al.
American Journal of Human Genetics, 1999
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
Parsons DW et al.
American Journal of Human Genetics, 1998
The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.
Lorson CL et al.
Human Molecular Genetics, 1998
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
Parsons DW et al.
Journal of Medical Genetics, 1998
SMN oligomerization defect correlates with spinal muscular atrophy severity.
Lorson CL et al.
Nature Genetics, 1998
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Rochette CF et al.
Neurogenetics, 1997
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Hahnen E et al.
Human Molecular Genetics, 1997