Muntoni F - Search Results

1

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.

Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Jan;13(1):55-9. doi: 10.1016/s0960-8966(02)00194-3. Neuromuscul Disord. 2003. PMID: 12467733

2

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.

Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, Dubowitz V, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Neuromuscul Disord. 1996 Dec;6(6):425-9. doi: 10.1016/s0960-8966(96)00383-5. Neuromuscul Disord. 1996. PMID: 9027850

3

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.

Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, Taylor J, Morris GE, Dubowitz V. Muntoni F, et al. Neuromuscul Disord. 1998 Apr;8(2):72-6. doi: 10.1016/s0960-8966(98)00006-6. Neuromuscul Disord. 1998. PMID: 9608559

4

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: muntoni f. Neuromuscul Disord. 1998 Oct;8(7):467-73. doi: 10.1016/s0960-8966(98)00064-9. Neuromuscul Disord. 1998. PMID: 9829276

5

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: muntoni f. Neuromuscul Disord. 1998 Oct;8(7):495-501. doi: 10.1016/s0960-8966(98)00065-0. Neuromuscul Disord. 1998. PMID: 9829280

6

X-linked dilated cardiomyopathy and the dystrophin gene.

Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. Ferlini A, et al. Among authors: muntoni f. Neuromuscul Disord. 1999 Jul;9(5):339-46. doi: 10.1016/s0960-8966(99)00015-2. Neuromuscul Disord. 1999. PMID: 10407857 Review.

7

Generalized calcification in a case of dermatomyositis.

Jungbluth H, Manzur AY, Bydder G, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2000 Feb;10(2):150. doi: 10.1016/s0960-8966(99)00067-x. Neuromuscul Disord. 2000. PMID: 10714592 No abstract available.

8

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

9

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: muntoni f. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

10

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F. Sewry CA, et al. Among authors: muntoni f. Neuromuscul Disord. 2001 Mar;11(2):146-53. doi: 10.1016/s0960-8966(00)00172-3. Neuromuscul Disord. 2001. PMID: 11257470

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