Bruno C - Search Results

1

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pini A, Villanova M, Vita G, Locatelli M, Mercuri E, Brahe C. Tiziano FD, et al. Among authors: bruno c. Neuromuscul Disord. 2007 May;17(5):400-3. doi: 10.1016/j.nmd.2007.02.006. Epub 2007 Apr 12. Neuromuscul Disord. 2007. PMID: 17433677

2

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

3

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.

4

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

5

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.

Bruno C, Bado M, Minetti C, Cordone G, DiMauro S. Bruno C, et al. J Child Neurol. 2000 Jun;15(6):390-3. doi: 10.1177/088307380001500607. J Child Neurol. 2000. PMID: 10868782

6

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

7

SPG3A: An additional family carrying a new atlastin mutation.

Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM. Tessa A, et al. Among authors: bruno c. Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98. Neurology. 2002. PMID: 12499504

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

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689

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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