Bruno C - Search Results

1

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.

Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E. Mercuri E, et al. Among authors: bruno c. Neuromuscul Disord. 2006 Feb;16(2):93-8. doi: 10.1016/j.nmd.2005.11.010. Epub 2006 Jan 20. Neuromuscul Disord. 2006. PMID: 16427782

2

[Early myoclonic encephalopathy and spinal muscular atrophy type I].

Bado M, Bruno C, Morreale G, Parisi F, Minetti C, Cordone G. Bado M, et al. Among authors: bruno c. Minerva Pediatr. 1995 Jun;47(6):233-8. Minerva Pediatr. 1995. PMID: 7476749 Italian.

3

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, Pons R, Taroni F, Cordone G. Minetti C, et al. Among authors: bruno c. Neuromuscul Disord. 1998 Feb;8(1):3-6. doi: 10.1016/s0960-8966(97)00121-1. Neuromuscul Disord. 1998. PMID: 9565984

4

Forearm semi-ischemic exercise test in pediatric patients.

Bruno C, Bado M, Minetti C, Cordone G. Bruno C, et al. J Child Neurol. 1998 Jun;13(6):288-90. doi: 10.1177/088307389801300610. J Child Neurol. 1998. PMID: 9660514 No abstract available.

5

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

Bruno C, DiRocco M, Lamba LD, Bado M, Marino C, Tsujino S, Shanske S, Stella G, Minetti C, van Diggelen OP, DiMauro S. Bruno C, et al. Neuromuscul Disord. 1999 Oct;9(6-7):403-7. doi: 10.1016/s0960-8966(99)00040-1. Neuromuscul Disord. 1999. PMID: 10545044

6

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S. Bruno C, et al. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

7

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.

Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L. Bruno C, et al. Neuromuscul Disord. 2002 Jun;12(5):498-500. doi: 10.1016/s0960-8966(01)00320-0. Neuromuscul Disord. 2002. PMID: 12031624

8

Congenital myopathies.

Bruno C, Minetti C. Bruno C, et al. Curr Neurol Neurosci Rep. 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. Curr Neurol Neurosci Rep. 2004. PMID: 14683632 Review.

9

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M. Broccolini A, et al. Among authors: bruno c. Hum Mutat. 2004 Jun;23(6):632. doi: 10.1002/humu.9252. Hum Mutat. 2004. PMID: 15146476

10

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C. Bertini E, et al. Among authors: bruno c. Neuropediatrics. 2005 Oct;36(5):309-13. doi: 10.1055/s-2005-872844. Neuropediatrics. 2005. PMID: 16217705

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