Bruno C - Search Results

1

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P. Rossi A, et al. Among authors: bruno c. AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. doi: 10.3174/ajnr.A0792. Epub 2007 Nov 1. AJNR Am J Neuroradiol. 2008. PMID: 17974614 Free PMC article.

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

[Muscle phosphorylase deficiency in childhood. A case report].

Bruno C, Iester A, Bado M, Morreale G, Broda P, Minetti C, Cordone A, Cordone G. Bruno C, et al. Minerva Pediatr. 1994 Oct;46(10):459-62. Minerva Pediatr. 1994. PMID: 7808367 Italian.

4

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Minetti C, et al. Among authors: bruno c. Nat Genet. 1998 Apr;18(4):365-8. doi: 10.1038/ng0498-365. Nat Genet. 1998. PMID: 9537420

5

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.

6

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Carbone I, et al. Among authors: bruno c. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. Neurology. 2000. PMID: 10746614

7

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

8

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, Volonte D, Lucania G, Pavan A, Bonilla E, Lisanti MP, Cordone G. Minetti C, et al. Among authors: bruno c. Am J Pathol. 2002 Jan;160(1):265-70. doi: 10.1016/S0002-9440(10)64370-2. Am J Pathol. 2002. PMID: 11786420 Free PMC article.

9

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C. Bruno C, et al. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

10

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

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