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A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. Mitsuhashi S, et al. Among authors: topaloglu h. Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010. Am J Hum Genet. 2011. PMID: 21665002 Free PMC article.
Occidental type cerebromuscular dystrophy: a report of eleven cases.
Topaloğlu H, Yalaz K, Renda Y, Cağlar M, Göğüs S, Kale G, Gücüyener K, Nurlu G. Topaloğlu H, et al. J Neurol Neurosurg Psychiatry. 1991 Mar;54(3):226-9. doi: 10.1136/jnnp.54.3.226. J Neurol Neurosurg Psychiatry. 1991. PMID: 2030350 Free PMC article.
Classification of congenital muscular dystrophy.
Topaloğlu H, Renda Y, Yalaz K, Gücuyener K, Cağlar M, Göğüş G, Kale G. Topaloğlu H, et al. J Pediatr. 1990 Jul;117(1 Pt 1):166-7. doi: 10.1016/s0022-3476(05)82466-7. J Pediatr. 1990. PMID: 2370606 No abstract available.
Muscular dystrophy or spinal muscular atrophy?
Topaloglu H, Renda Y, Kale G, Gucuyener K. Topaloglu H, et al. Lancet. 1989 Apr 29;1(8644):960-1. doi: 10.1016/s0140-6736(89)92541-5. Lancet. 1989. PMID: 2565450 No abstract available.
336 results