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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Toussaint A, et al. Among authors: yis u. Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. Acta Neuropathol. 2011. PMID: 20927630
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: yis u. 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
Primary lymphedema in a four year old boy.
Yis U, Dirik E. Yis U, et al. Indian Pediatr. 2005 Jul;42(7):726-7. Indian Pediatr. 2005. PMID: 16085981 Free article. No abstract available.
Aorta coarctation presenting with intracranial aneurysm rupture.
Hüdaoğlu O, Kurul S, Cakmakci H, Men S, Yiş U, Dirik E. Hüdaoğlu O, et al. Among authors: yis u. J Paediatr Child Health. 2006 Jul-Aug;42(7-8):477-9. doi: 10.1111/j.1440-1754.2006.00903.x. J Paediatr Child Health. 2006. PMID: 16898890
Spinocerebellar ataxia type 2 in a Turkish family.
Dirik E, Yiş U, Başak N, Soydan E, Hüdaoğlu O, Ozgönül F. Dirik E, et al. Among authors: yis u. J Child Neurol. 2007 Jul;22(7):891-4. doi: 10.1177/0883073807304702. J Child Neurol. 2007. PMID: 17715286
204 results