Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data

(2018) Francisco C. Ceballos et al.   BMC GENOMICS

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

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

AMYCNE: Confident copy number assessment using whole genome sequencing data

(2018) Jesper Eisfeldt et al.   PLoS One

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

(2018) Teresa Gidaro et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

(2017) Xingxing Wu et al.   HUMAN MOLECULAR GENETICS

Longitudinal assessments in discordant twins with SMA

(2017) Marika Pane et al.   NEUROMUSCULAR DISORDERS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

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

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

(2015) Vicki L. McGovern et al.   PLoS One

Methylation Levels of SLC23A2 and NCOR2 Genes Correlate with Spinal Muscular Atrophy Severity

(2015) Galina Yu. Zheleznyakova et al.   PLoS One

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

(2014) W. David Arnold et al.   MUSCLE & NERVE

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection

(2014) David M. Alvarado et al.   NUCLEIC ACIDS RESEARCH

Spinal muscular atrophy: Development and implementation of potential treatments

(2013) W. David Arnold et al.   ANNALS OF NEUROLOGY

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

(2013) Galina Y Zheleznyakova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A common gene variant in PLS3 predicts colon cancer recurrence in women

(2013) Joanna Szkandera et al.   TUMOR BIOLOGY

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR 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

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene

(2011) Le T Hao et al.   Molecular Neurodegeneration

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

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

(2011) Sara Bernal et al.   NEUROMUSCULAR DISORDERS

Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis

(2010) Chun-Chi Wang et al.   ELECTROPHORESIS

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

(2010) S. Bernal et al.   JOURNAL OF MEDICAL GENETICS

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Unaffected patients with a homozygous absence of the SMN1 gene

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

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

(2008) Jan Hauke et al.   HUMAN MOLECULAR GENETICS

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2008) G. E. Oprea et al.   SCIENCE