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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: banwell b. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: banwell b. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
MRI in the diagnosis of pediatric multiple sclerosis.
Callen DJ, Shroff MM, Branson HM, Lotze T, Li DK, Stephens D, Banwell BL. Callen DJ, et al. Among authors: banwell bl. Neurology. 2009 Mar 17;72(11):961-7. doi: 10.1212/01.wnl.0000338629.01627.54. Epub 2008 Nov 26. Neurology. 2009. PMID: 19038852
Abnormal effector and regulatory T cell subsets in paediatric-onset multiple sclerosis.
Mexhitaj I, Nyirenda MH, Li R, O'Mahony J, Rezk A, Rozenberg A, Moore CS, Johnson T, Sadovnick D, Collins DL, Arnold DL, Gran B, Yeh EA, Marrie RA, Banwell B, Bar-Or A. Mexhitaj I, et al. Among authors: banwell b. Brain. 2019 Mar 1;142(3):617-632. doi: 10.1093/brain/awz017. Brain. 2019. PMID: 30759186 Free PMC article.
365 results