![]() Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni,Ĭristina Al‐Khalili‐Szigyarto, Marleen J.A. Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van den Bergen, Zaïda Koeks, Hermien E. Volker Straub, Alexander Murphy, Bjarne Udd Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies Leiden University Medical Center – LUMCĢ29th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands.Institut National de la Santé et de la Recherche Médicale.German Center for Neurodegenerative Diseases (DZNE). ![]() 11 – Modifier gene identification, prioritization and study.10 – Elucidation of pathogenesis and monitoring of treatment.8 – Bioinformatic tools for diagnostic prediction.7 – Omics-based biomarkers for progression and therapy monitoring related to disease pathways.6 – Diagnostic read outs for predicting disease modification.5 – Development and implementation of disease group overlapping NGS-based diagnostic panels.4 – Identification of hypothesis-driven biomarkers for disease progression.3 – Identification of modifying factors in cohorts enriched by deep phenotyping.2 – Identification of novel disease genes in NDD/NMD patients.1 – Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients.Spinal muscular atrophy – Lower motor neuron disease.Hereditary motor neuropathies – Charcot-Marie-Tooth disease.
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