In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Peripheral Administration of Antisense Oligonucleotides Targeting the Amyloid-β Protein Precursor Reverses AβPP and LRP-1 Overexpression in the Aged SAMP8 Mouse Brain

(2018) Michelle A. Erickson et al.   JOURNAL OF ALZHEIMERS DISEASE

Splice Modulating Therapies for Human Disease

(2012) Pietro Spitali et al.   CELL

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

Genetic testing and screening of individuals at risk of NF2

(2011) DG Evans et al.   CLINICAL GENETICS

Effects of splicing mutations on NF2-transcripts: Transcript analysis and information theoretic predictions

(2011) James R. Ellis et al.   GENES CHROMOSOMES & CANCER

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Targeting RNA to treat neuromuscular disease

(2011) Francesco Muntoni et al.   NATURE REVIEWS DRUG DISCOVERY

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

(2010) Annemieke Aartsma-Rus et al.   Annals of the New York Academy of Sciences

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

Further genotype – phenotype correlations in neurofibromatosis 2

(2009) SK Selvanathan et al.   CLINICAL GENETICS

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

(2009) Eva Pros et al.   HUMAN MUTATION

Neurofibromatosis type 2

(2009) Ashok R Asthagiri et al.   LANCET

Gene Knockdowns in Adult Animals: PPMOs and Vivo-Morpholinos

(2009) Jon Moulton et al.   MOLECULES

Neurofibromatosis type 2 (NF2): A clinical and molecular review

(2009) D Gareth R Evans   Orphanet Journal of Rare Diseases