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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.208-215

2018

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

International journal of molecular sciences, 2022-07, Vol.23 (15), p.8289

2022

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Synaptic defects in type I spinal muscular atrophy in human development

The Journal of pathology, 2013-01, Vol.229 (1), p.49-61

2013

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High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

International journal of molecular sciences, 2021-09, Vol.22 (18), p.9705

2021

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Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Frontiers in genetics, 2022-10, Vol.13

2022

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The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

Journal of neuropathology and experimental neurology, 2009-05, Vol.68 (5), p.474-481

2009

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Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1554-1557

2018

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Human mutation, 2021-06, Vol.42 (6), p.787-795

2021

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Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

Genetic testing and molecular biomarkers, 2011-09, Vol.15 (9), p.587

2011

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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

BMC medical genetics, 2018-05, Vol.19 (1), p.77-77, Article 77

2018

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Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

Scientific reports, 2015-06, Vol.5 (1), p.11696-11696, Article 11696

2015

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Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

Neurology. Genetics, 2020-12, Vol.6 (6), p.e530-e530

2020

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Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

Journal of neuropathology and experimental neurology, 2014-06, Vol.73 (6), p.559-567

2014

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Genotype-Phenotype correlation of SMN locus genes in Spinal Muscular Atrophy children from Argentina

European journal of paediatric neurology, 2016-11, Vol.20 (6), p.910-917

2016

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Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.413-419

2011

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

Muscle & nerve, 2019-01, Vol.59 (1), p.137-141

2019

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Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1059-1065

2011

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Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

Journal of neuromuscular diseases, 2023-01, Vol.10 (4), p.653-665

2023

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Analysis of the C9orf72 gene in spinal muscular atrophy patients

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2014-12, Vol.15 (7-8), p.563-568

2014

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Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy

Journal of rehabilitation medicine, 2010-03, Vol.42 (3), p.228-231

2010

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Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

Neuromuscular disorders : NMD, 2011-02, Vol.21 (2), p.97-101

2011

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Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number

The journal of maternal-fetal & neonatal medicine, 2012-08, Vol.25 (8), p.1246-1249

2012

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Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy

European journal of human genetics : EJHG, 2007-10, Vol.15 (10), p.1090-1093

2007

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Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

Clinical neurology and neurosurgery, 2007-12, Vol.109 (10), p.844-848

2007

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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Synaptic defects in type I spinal muscular atrophy in human development

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

Genotype-Phenotype correlation of SMN locus genes in Spinal Muscular Atrophy children from Argentina

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

Analysis of the C9orf72 gene in spinal muscular atrophy patients

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

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