Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

C6 pyridinium ceramide influences alternative pre-mRNA splicing by inhibiting protein phosphatase-1

(2012) Chiranthani Sumanasekera et al.   NUCLEIC ACIDS RESEARCH

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

(2012) Andreas Herzog et al.   Orphanet Journal of Rare Diseases

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

(2012) M. Prudencio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Amiloride Modulates Alternative Splicing in Leukemic Cells and ResensitizesBcr-AblT315I Mutant Cells to Imatinib

(2011) Wen-Hsin Chang et al.   CANCER RESEARCH

Resveratrol, by Modulating RNA Processing Factor Levels, Can Influence the Alternative Splicing of Pre-mRNAs

(2011) M. Andrea Markus et al.   PLoS One

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

(2009) Yang Bian et al.   HUMAN MOLECULAR GENETICS

Cellular effects of resveratrol in skeletal muscle

(2009) Amie J. Dirks Naylor   LIFE SCIENCES

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

(2008) P. R. Joshi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

(2008) L. Wan et al.   JOURNAL OF NEUROLOGY