Dubowitz V - Search Results

1

Fifty year follow-up of a patient with central core disease shows slow but definite progression.

Lamont PJ, Dubowitz V, Landon DN, Davis M, Morgan-Hughes JA. Lamont PJ, et al. Among authors: dubowitz v. Neuromuscul Disord. 1998 Aug;8(6):385-91. doi: 10.1016/s0960-8966(98)00043-1. Neuromuscul Disord. 1998. PMID: 9713855

2

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H. Cullup T, et al. Among authors: dubowitz v. Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10. Neuromuscul Disord. 2012. PMID: 22784669

3

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.

Manzur AY, Sewry CA, Ziprin J, Dubowitz V, Muntoni F. Manzur AY, et al. Among authors: dubowitz v. Neuromuscul Disord. 1998 Oct;8(7):467-73. doi: 10.1016/s0960-8966(98)00064-9. Neuromuscul Disord. 1998. PMID: 9829276

4

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: dubowitz v. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074

5

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: dubowitz v. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253

6

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: dubowitz v. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

7

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.

Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: dubowitz v. Neuromuscul Disord. 1996 Dec;6(6):467-74. doi: 10.1016/s0960-8966(96)00389-6. Neuromuscul Disord. 1996. PMID: 9027857 Clinical Trial.

8

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: dubowitz v. Neuromuscul Disord. 1997 May;7(3):169-75. doi: 10.1016/s0960-8966(97)00425-2. Neuromuscul Disord. 1997. PMID: 9185180

9

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.

Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F. Naom I, et al. Among authors: dubowitz v. Neuromuscul Disord. 1998 Oct;8(7):495-501. doi: 10.1016/s0960-8966(98)00065-0. Neuromuscul Disord. 1998. PMID: 9829280

10

Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy.

Dubowitz V. Dubowitz V. Neuromuscul Disord. 2006 Dec;16(12):865-6. doi: 10.1016/j.nmd.2006.09.003. Epub 2006 Nov 21. Neuromuscul Disord. 2006. PMID: 17118656 No abstract available.

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