Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

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

Hydroxyurea enhances SMN2 gene expression through nitric oxide release

(2010) Cheng Xu et al.   NEUROGENETICS

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

(2010) T.- H. Chen et al.   NEUROLOGY

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

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

(2009) Lutz Garbes et al.   HUMAN MOLECULAR GENETICS

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

(2009) Kathryn J. Swoboda et al.   PLoS One

Valproic Acid–Induced Deregulation In Vitro of Genes Associated In Vivo with Neural Tube Defects

(2009) Måns Jergil et al.   TOXICOLOGICAL SCIENCES

A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?

(2008) Didem Dayangaç-Erden et al.   ADVANCES IN THERAPY

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

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

The effect of hydroxyurea in spinal muscular atrophy cells and patients

(2008) Wen-Chen Liang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

(2005) Susanna M. Grzeschik et al.   ANNALS OF NEUROLOGY