NeurOmics
NeurOmics
Menu
Project welcome
About the project
Coordination office
Project board
Project ethics council
Innovation council
Scientific advisory board
Close
News & events
News & events
Concerns over EU data protection regulation
News
Newsletter
Submit a newsletter article
Events
Past project meetings
Heidelberg 2014
Heidelberg Programme
Close
Diseases
Overview
Ataxia
Congenital muscular dystrophy
Congenital myasthenic syndrome
Fronto-temporal lobe dementia
Hereditary motor neuropathies – Charcot-Marie-Tooth disease
Hereditary spastic paraplegias
Huntington’s disease
Muscular channelopathy
Muscular dystrophy
Spinal muscular atrophy – Lower motor neuron disease
Close
Partners
Project partners
Agilent Technologies
Ariadne Diagnostics, LLC
Bio-Prodict
Cambridge University
deCODE genetics
German Center for Neurodegenerative Diseases (DZNE)
Institut National de la Santé et de la Recherche Médicale
Leiden University Medical Center – LUMC
Newcastle University
Profilomic
Universitätsklinikum Freiburg
Universite d’Aix Marseille
University College London – ICH
University College London – IoN
University College London – MRC
University Hospital Cologne
University of Antwerp – CDE
University of Ferrara
University of Milan
University of Tübingen
University of Western Australia
Partner resources
Reports due
Project deadlines
Update mailing lists
Update partner information
Update profile details
Website update
Intranet
Close
Workpackages
Workpackages
1 – Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
2 – Identification of novel disease genes in NDD/NMD patients
3 – Identification of modifying factors in cohorts enriched by deep phenotyping
4 – Identification of hypothesis-driven biomarkers for disease progression
5 – Development and implementation of disease group overlapping NGS-based diagnostic panels
6 – Diagnostic read outs for predicting disease modification
7 – Omics-based biomarkers for progression and therapy monitoring related to disease pathways
8 – Bioinformatic tools for diagnostic prediction
9 – Omics-assisted therapy development
10 – Elucidation of pathogenesis and monitoring of treatment
11 – Modifier gene identification, prioritization and study
12 – Impact and communication
13 – Research infrastructure
14 – Project Management
Close
Publications
Below are the ten most recently published papers that we think will be of interest to those connected with the project.
View the full list of relevant publications
Publications
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Banwarth S, Ait-El-Mkadem S, Chaussenot A, Genin E.C, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D.G, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H,Pouget J, Paquis-Flucklinger V.
Antisense-Mediated Exon Skipping: Networking to Meet Opportunities and to Overcome Challenges
Annemieke Aartsma-Rus
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle
Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E.
Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring DMD Mutations
Emily Dick, Spandan Kalra, David Anderson, Vinoj George, Morten Ritso, Steven H. Laval, Rita Barresi, Annemieke Aartsma-Rus, Hanns Lochmüller, and Chris Denning
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon
Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.
DMD transcript imbalance determines dystrophin levels
Spitali P, van den Bergen JC, IEC, Wokke B, Janson AAM, van den Eijnde R, den Dunnen JT, Laros JFJ, Verschuuren JJGM, ’t Hoen PAC and Aartsma-Rus A
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimon, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev and Albena Jordanova
Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice
van Putten M, Hulsker M, Young C, Nadarajah VD, Heemskerk H, van der Weerd L, 't Hoen PA, van Ommen GJ, Aartsma-Rus AM
Dose-dependent pharmacokinetic profiles of 2′-O-methyl phosphorothioate antisense oligonucleotidesin mdx mice
Verhaart IE, Tanganyika-de Winter CL, Karnaoukh TG, Kolfschoten IG, de Kimpe SJ, van Deutekom JC, Aartsma-Rus A.
Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy
van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB
Close
Contact us
Find Events
Event Views Navigation
View As
List
Month
Day
Events From
Upcoming Events
Events List Navigation
«
Previous Events
May 2015
VI Meeting on Molecular Mechanisms of Neurodegeneration
May 28 @ 8:00 am
-
May 30 @ 5:00 pm
Salone Pio XII
,
Casa Cardinale Ildefonso Schuster, Via San Antonio 5
,
Milan
,
20122
Italy
+ Google Map
Find out more »
+ Export Listed Events
This site uses cookies
No problem
More info
