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PY - 2007 DA - 2007// TI - Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation JO - Neuromuscul Disord VL - 17 UR - https://doi.org/10.1016/j.nmd.2006.12.014 DO - 10.1016/j.nmd.2006.12.014 ID - Aquaron2007 ER - TY - JOUR AU - Delaney, N. F. AU - Sharma, R. AU - Tadvalkar, L. AU - Clish, C. B. AU - Haller, R. G. AU - Mootha, V. K. PY - 2017 DA - 2017// TI - Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy JO - Proc Natl Acad Sci U S A VL - 114 UR - https://doi.org/10.1073/pnas.1703338114 DO - 10.1073/pnas.1703338114 ID - Delaney2017 ER - TY - JOUR AU - Gurgel-Giannetti, J. AU - Nogales-Gadea, G. AU - Linden, H. AU - Bellard, T. M. AU - Brasileiro Filho, G. AU - Giannetti, A. V. 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PY - 2015 DA - 2015// TI - Report on the EUROMAC McArdle exercise testing workshop, Madrid, Spain, 11-12 July 2014 JO - Neuromuscul Disord VL - 25 UR - https://doi.org/10.1016/j.nmd.2015.05.009 DO - 10.1016/j.nmd.2015.05.009 ID - Quinlivan2015 ER - TY - JOUR AU - Quinlivan, R. AU - Andreu, A. L. AU - Marti, R. PY - 2017 DA - 2017// TI - 211th ENMC international workshop: development of diagnostic criteria and management strategies for McArdle disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands JO - Neuromuscul Disord VL - 27 UR - https://doi.org/10.1016/j.nmd.2017.09.002 DO - 10.1016/j.nmd.2017.09.002 ID - Quinlivan2017 ER - TY - JOUR AU - Madsen, K. L. AU - Laforet, P. AU - Buch, A. E. AU - Stemmerik, M. G. AU - Ottolenghi, C. AU - Hatem, S. N. PY - 2019 DA - 2019// TI - No effect of triheptanoin on exercise performance in McArdle disease JO - Ann Clin Transl Neurol VL - 6 UR - https://doi.org/10.1002/acn3.50863 DO - 10.1002/acn3.50863 ID - Madsen2019 ER -