Subtle Mutation Detection of SMN1 Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for SMN1 Gene Mutations

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

(2013) Jin He et al.   GENE

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China

(2013) W.L. Liu et al.   GENETICS AND MOLECULAR RESEARCH

A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

(2012) Natalia N. Singh et al.   PLoS One

Spinal Muscular Atrophy

(2011) Stephen J. Kolb   ARCHIVES OF NEUROLOGY

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy

(2011) Jian Zeng et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2010) Chun-Chi Wang et al.   ELECTROPHORESIS

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

(2009) Francesco Danilo Tiziano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

(2008) Lars Brichta et al.   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

A natural history study of late onset spinal muscular atrophy types 3b and 4

(2008) S. Piepers et al.   JOURNAL OF NEUROLOGY

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET