Muntoni F - Search Results

1

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM. Pogue R, et al. Among authors: muntoni f. Neuromuscul Disord. 2001 Jan;11(1):80-7. doi: 10.1016/s0960-8966(00)00154-1. Neuromuscul Disord. 2001. PMID: 11166169

2

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: muntoni f. Neuromuscul Disord. 1996 Dec;6(6):467-74. doi: 10.1016/s0960-8966(96)00389-6. Neuromuscul Disord. 1996. PMID: 9027857 Clinical Trial.

3

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

4

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: muntoni f. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502

5

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

6

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V. Tan E, et al. Among authors: muntoni f. Neuromuscul Disord. 1997 Mar;7(2):85-9. doi: 10.1016/s0960-8966(96)00421-x. Neuromuscul Disord. 1997. PMID: 9131648

7

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.

Manilal S, Sewry CA, Man N, Muntoni F, Morris GE. Manilal S, et al. Among authors: muntoni f. Neuromuscul Disord. 1997 Jan;7(1):63-6. doi: 10.1016/s0960-8966(96)00405-1. Neuromuscul Disord. 1997. PMID: 9132142

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: muntoni f. Neuromuscul Disord. 1997 May;7(3):169-75. doi: 10.1016/s0960-8966(97)00425-2. Neuromuscul Disord. 1997. PMID: 9185180

9

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.

Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. Naom I, et al. Among authors: muntoni f. Neuromuscul Disord. 1997 May;7(3):176-9. doi: 10.1016/s0960-8966(97)00448-3. Neuromuscul Disord. 1997. PMID: 9185181

10

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry C. Taylor J, et al. Among authors: muntoni f. Neuromuscul Disord. 1997 Jun;7(4):211-6. doi: 10.1016/s0960-8966(97)00461-6. Neuromuscul Disord. 1997. PMID: 9196901

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