Related references
Note: Only part of the references are listed.Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Sarah E. Flanagan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Cell Penetrating Peptide Delivery of Splice Directing Oligonucleotides as a Treatment for Duchenne Muscular Dystrophy
Corinne A. Betts et al.
CURRENT PHARMACEUTICAL DESIGN (2013)
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
Simona Cavalieri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II
Claire Rosnoblet et al.
HUMAN MOLECULAR GENETICS (2013)
Newly characterized Golgi- localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
Didier Demaegd et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeting RNA splicing for disease therapy
Mallory A. Havens et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
Francois Foulquier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial
Maartje E. Visser et al.
EUROPEAN HEART JOURNAL (2012)
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb et al.
HUMAN MOLECULAR GENETICS (2012)
Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging
Fernando G. Osorio et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Congenital disorders of glycosylation
Jaak Jaeken
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
Present and future of antisense therapy for splicing modulation in inherited metabolic disease
Belen Perez et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial
Frederick J. Raal et al.
LANCET (2010)
Glycosylation diseases: Quo vadis?
Harry Schachter et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
CDG nomenclature: Time for a change!
Jaak Jaeken et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
Ellen Reynders et al.
HUMAN MOLECULAR GENETICS (2009)
A Deep Intronic Mutation in FGB Creates a Consensus Exonic Splicing Enhancer Motif That Results in Afibrinogenemia Caused by Aberrant mRNA Splicing, Which Can Be Corrected In Vitro With Antisense Oligonucleotide Treatment
Ryan L. Davis et al.
HUMAN MUTATION (2009)
Pseudoexon Exclusion by Antisense Therapy in Methylmalonic Aciduria (MMAuria)
B. Perez et al.
HUMAN MUTATION (2009)
Functional Analysis of Three Splicing Mutations Identified in the PMM2 Gene: Toward a New Therapy for Congenital Disorder of Glycosylation type IA
Ana I. Vega et al.
HUMAN MUTATION (2009)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Uwe Kornak et al.
NATURE GENETICS (2008)
Defective splicing, disease and therapy: searching for master checkpoints in exon definition
Emanuele Buratti et al.
NUCLEIC ACIDS RESEARCH (2006)
Use of minigene systems to dissect alternative splicing elements
TA Cooper
METHODS (2005)
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
LE Maquat
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
XH Wu et al.
NATURE MEDICINE (2004)
Genomic variants in exons and introns: identifying the splicing spoilers
F Pagani et al.
NATURE REVIEWS GENETICS (2004)
Share Paper
