Technical standards and guidelines for spinal muscular atrophy testing

ACOG Committee Opinion No. 432: Spinal Muscular Atrophy

(2014)   OBSTETRICS AND GYNECOLOGY

Perspectives and diagnostic considerations in spinal muscular atrophy

(2010) Thomas W Prior   GENETICS IN MEDICINE

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

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

Differences in SMN1 allele frequencies among ethnic groups within North America

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

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

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

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

(2008) G. E. Oprea et al.   SCIENCE

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

(2007) Thomas Eggermann et al.   NEUROMUSCULAR DISORDERS