The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

(2020) Xiao Chen et al.   GENETICS IN MEDICINE

Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

(2020) Tim Hagenacker et al.   LANCET NEUROLOGY

Amyotrophic lateral sclerosis: a clinical review

(2020) P. Masrori et al.   EUROPEAN JOURNAL OF NEUROLOGY

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

(2019) Daniel M. Ramos et al.   JOURNAL OF CLINICAL INVESTIGATION

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

(2017) Melissa Bowerman et al.   European Journal of Medical Genetics

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

(2017) Yanming Feng et al.   GENETICS IN MEDICINE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

(2017) Christian M. Simon et al.   Cell Reports

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

(2017) Natalia Rodriguez-Muela et al.   Cell Reports

Association of a Locus in theCAMTA1Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

(2016) Isabella Fogh et al.   JAMA Neurology

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

(2015) Ping Fang et al.   BMC MUSCULOSKELETAL DISORDERS

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls

(2015) Christian Czech et al.   PLoS One

Long-term survival in amyotrophic lateral sclerosis: A population-based study

(2014) Elisabetta Pupillo et al.   ANNALS OF NEUROLOGY

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: Evidence from a meta-analysis

(2014) Xue-Bin Wang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

SMN1 gene duplications are associated with sporadic ALS

(2012) H. M. Blauw et al.   NEUROLOGY

HomozygousSMN2Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients

(2011) Jun-Beom Lee et al.   YONSEI MEDICAL JOURNAL

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

The importance of theSMNgenes in the genetics of sporadic ALS

(2009) Philippe Corcia et al.   Amyotrophic Lateral Sclerosis