Clinical, histological, and genetic characterization of PYROXD1-related myopathy
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E. Malfatti | N. Romero | A. Echaniz-Laguna | V. Biancalana | R. Quinlivan | J. Böhm | J. Laporte | V. Schartner | M. Fardeau | C. Sewry | T. Willis | X. Lornage | B. Lannes | S. Scheidecker | Inès Balbueno
[1] V. Dubowitz,et al. Muscle Biopsy: A Practical Approach , 2020 .
[2] A. Paetau,et al. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy , 2018, Journal of Neurology.
[3] D. MacArthur,et al. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. , 2018, Physiological genomics.
[4] D. MacArthur,et al. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. , 2018, Physiological genomics.
[5] J. Dowling,et al. The genetics of congenital myopathies. , 2018, Handbook of clinical neurology.
[6] Beryl B. Cummings,et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. , 2016, American journal of human genetics.
[7] A. Michelucci,et al. Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice , 2015, Skeletal Muscle.
[8] Y. Li,et al. DPAGT1 myasthenia and myopathy , 2014, Neurology.
[9] N. Romero,et al. Congenital myopathies. , 2013, Handbook of clinical neurology.
[10] J. Dowling,et al. Congenital Myopathies: An Update , 2012, Current Neurology and Neuroscience Reports.
[11] N. Laing. Congenital myopathies , 2007, Current opinion in neurology.
[12] C. Wallgren‐Pettersson. Congenital myopathies. , 2005, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[13] L. Maquat. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics , 2004, Nature Reviews Molecular Cell Biology.
[14] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[15] L. Ji,et al. Responses of glutathione system and antioxidant enzymes to exhaustive exercise and hydroperoxide. , 1992, Journal of applied physiology.
[16] K. Davies,et al. HSP70 and other possible heat shock or oxidative stress proteins are induced in skeletal muscle, heart, and liver during exercise. , 1991, Free radical biology & medicine.