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Showing 1–7 of 7 results

Advanced filters: Author: Willeke M. C. van Roon-Mom Clear advanced filters

Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

Anastasios Mastrokolias
Yavuz Ariyurek
Willeke MC van Roon-Mom
ResearchOpen Access28 Jan 2015
European Journal of Human Genetics

Volume: 23, P: 1349-1356
Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

Lodewijk J. A. Toonen
Iris Schmidt
Willeke M. C. van Roon-Mom
ResearchOpen Access12 Oct 2016
Scientific Reports

Volume: 6, P: 1-11
Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

Davina J. Hensman Moss
Michael D. Flower
Sarah J. Tabrizi
ResearchOpen Access21 Mar 2017
Scientific Reports

Volume: 7, P: 1-12
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux
Mathieu Barbier
Nicholas Wood
Research27 Jul 2020
Genetics in Medicine

Volume: 22, P: 1851-1862
Huntingtin gene repeat size variations affect risk of lifetime depression

Sarah L. Gardiner
Martine J. van Belzen
N. Ahmad Aziz
ReviewsOpen Access11 Dec 2017
Translational Psychiatry

Volume: 7, P: 1-8
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux
Mathieu Barbier
Nicholas Wood
Amendments and Corrections22 Dec 2020
Genetics in Medicine

Volume: 23, P: 2021
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders

Lauffer et al. discuss the possibilities that antisense oligonucleotide (ASO) approaches can bring to treating rare genetic diseases. The authors outline considerations and barriers to their implementation, and how these might be overcome.

Marlen C. Lauffer
Willeke van Roon-Mom
Annemieke Aartsma-Rus
ReviewsOpen Access05 Jan 2024
Communications Medicine

Volume: 4, P: 1-11