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Susan Treves
Universität Basel - Basel / Switzerland
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AD Scientific Index ID: 1082411
University of Basel
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Susan Treves's MOST POPULAR ARTICLES
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RYR1 mutations are a common cause of congenital myopathies with central nucleiJM Wilmshurst, S Lillis, H Zhou, K Pillay, H Henderson, W Kress, ...Annals of neurology 68 (5), 717-726, 20102632010
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Congenital myopathies: disorders of excitation–contraction coupling and muscle contractionH Jungbluth, S Treves, F Zorzato, A Sarkozy, J Ochala, C Sewry, ...Nature Reviews Neurology 14 (3), 151-167, 20181802018
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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysisN Dlamini, NC Voermans, S Lillis, K Stewart, EJ Kamsteeg, G Drost, ...Neuromuscular Disorders 23 (7), 540-548, 20131792013
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesH Zhou, H Jungbluth, CA Sewry, L Feng, E Bertini, K Bushby, V Straub, ...Brain 130 (8), 2024-2036, 20072012007
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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium …N Tilgen, F Zorzato, B Halliger-Keller, F Muntoni, C Sewry, LM Palmucci, ...Human molecular genetics 10 (25), 2879-2887, 20011882001
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