Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SMA subtype concordance in siblings: Findings from the cure SMA cohort

(2016) C. Jones et al.   NEUROMUSCULAR DISORDERS

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

(2015) Jessica L. Larson et al.   BMC Medical Genetics

The Israeli national population program of genetic carrier screening for reproductive purposes

(2015) Joël Zlotogora et al.   GENETICS IN MEDICINE

Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy

(2015) Kai Chen Wang et al.   JOURNAL OF NEUROGENETICS

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

(2015) Richard Finkel et al.   NEUROMUSCULAR DISORDERS

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

(2014) Modibo Sangaré et al.   ANNALS OF NEUROLOGY

Carrier screening for spinal muscular atrophy in Italian population

(2014) FRANCESCO CALÌ et al.   JOURNAL OF GENETICS

Observational study of spinal muscular atrophy type I and implications for clinical trials

(2014) R. S. Finkel et al.   NEUROLOGY

SMA carrier testing: a meta-analysis of differences in test performance by ethnic group

(2014) William Kim MacDonald et al.   PRENATAL DIAGNOSIS

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetic testing of sperm donors for cystic fibrosis and spinal muscular atrophy: evaluation of clinical utility

(2013) I. Landaburu et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

(2013) Jin He et al.   GENE

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

(2013) Minjie Luo et al.   GENETICS IN MEDICINE

SMN1 gene duplications are more frequent in patients with progressive muscular atrophy

(2013) Magdalena Kuźma-Kozakiewicz et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

(2012) Philippe Corcia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

(2011) Jessica X Chong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

(2011) Abdelbasset Amara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy

(2011) Miguel Gonçalves-Rocha et al.   Genetic Testing and Molecular Biomarkers

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

(2011) Jaber Lyahyai et al.   Genetic Testing and Molecular Biomarkers

Technical standards and guidelines for spinal muscular atrophy testing

(2011) Thomas W Prior et al.   GENETICS IN MEDICINE

Large-scale population screening for spinal muscular atrophy: Clinical implications

(2011) Shay Ben-Shachar et al.   GENETICS IN MEDICINE

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

(2011) Tai-Heng Chen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

(2011) K.C. Bueno et al.   NEUROEPIDEMIOLOGY

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

(2011) Yi-Ning Su et al.   PLoS One

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Child neuromuscular disease in Southern Norway: Prevalence, age and distribution of diagnosis with special reference to “non-Duchenne muscular dystrophy”

(2010) Svein-Erik Tangsrud et al.   CLINICAL GENETICS

High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel

(2010) K. Fried et al.   CLINICAL GENETICS

Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island

(2010) Marie-Josée P<sc>ascalet-Guidon et al.   CLINICAL GENETICS

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

(2010) Zhu Sheng-Yuan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

(2010) Pamela Callum et al.   FERTILITY AND STERILITY

Large-Scale Population Carrier Screening for Spinal Muscular Atrophy in Israel—Effect of Ethnicity on the False-Negative Rate

(2010) Rivka Sukenik-Halevy et al.   Genetic Testing and Molecular Biomarkers

Determination ofSMN1andSMN2Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification

(2010) Seoyoung Yoon et al.   Korean Journal of Laboratory Medicine

Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

(2010) Maria Jedrzejowska et al.   NEUROEPIDEMIOLOGY

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

(2009) Eva Arkblad et al.   ACTA PAEDIATRICA

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

(2009) M. Hasanzad et al.   EUROPEAN JOURNAL OF NEUROLOGY

Differences in SMN1 allele frequencies among ethnic groups within North America

(2009) B C Hendrickson et al.   JOURNAL OF MEDICAL GENETICS

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

(2008) Mohd Shamshudin Watihayati et al.   BRAIN & DEVELOPMENT

Unaffected patients with a homozygous absence of the SMN1 gene

(2008) Maria Jędrzejowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Laura Alías et al.   HUMAN GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE