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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA. Logan CV, et al. Among authors: manzur ay. Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995. Nat Genet. 2011. PMID: 22101682
Generalized calcification in a case of dermatomyositis.
Jungbluth H, Manzur AY, Bydder G, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neuromuscul Disord. 2000 Feb;10(2):150. doi: 10.1016/s0960-8966(99)00067-x. Neuromuscul Disord. 2000. PMID: 10714592 No abstract available.
An unusual case of hyperekplexia.
Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: manzur ay. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074
109 results