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List of works by Andrew Douglas

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

scientific article published on 20 April 2016

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

scientific article

Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly

scientific article published on 01 January 2010

Modern genetics. No blind alleys in the clinic

scientific article published on 25 May 2010

Oligonucleotide therapies: the future of amyotrophic lateral sclerosis treatment?

scientific article published on January 2015

Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective

scientific article

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

scientific article published on 22 November 2020

Persistent Fetal Vasculature and Severe Protein C Deficiency.

scientific article

RNA splicing: disease and therapy ⬇️

scientific article published on May 1, 2011

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

Splicing therapy for neuromuscular disease ⬇️

scientific article published on April 28, 2013

Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.

scientific article published on 20 May 2015

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