Claudio Bruno

发表

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

S. Dimauro, A. Andreu, J. Gámez, 1999, Muscle & nerve.

In Vivo Regulation of Oxidative Phosphorylation in Cells Harboring a Stop-codon Mutation in Mitochondrial DNA-encoded Cytochrome c Oxidase Subunit I*

M. Beal, A. Barrientos, G. Manfredi, 2001, The Journal of Biological Chemistry.

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion

S. Dimauro, P. Magalhães, C. Bruno, 1998, Journal of Inherited Metabolic Disease.

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

S. Dimauro, M. Zeviani, C. Bruno, 1999, The Journal of pediatrics.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

S. Dimauro, F. Zara, F. Mosca, 2004, Neurology.

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

S. Dimauro, I. Nishino, C. Bruno, 1999, Neurology.

Polyglucosan body disease simulating amyotrophic lateral sclerosis

S. Dimauro, C. Bruno, J. Goldman, 1993, Neurology.

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

S. Dimauro, C. Bruno, C. Sue, 1999, Annals of neurology.

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

S. Dimauro, S. Tsujino, C. Bruno, 1999, Neuromuscular Disorders.

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

F. Zara, F. Sotgia, M. Lisanti, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Sudden infant death syndrome (SIDS) in a family with myosphosphorylase deficiency

S. Dimauro, S. Tsujino, C. Bruno, 1997, Neuromuscular Disorders.

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

S. Dimauro, C. Bruno, L. Hayward, 1998, Neurology.

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

S. Dimauro, C. Bruno, E. Bonilla, 1999, Annals of neurology.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

M. Lisanti, P. Sabatelli, I. Carbone, 2002, Journal of neurology, neurosurgery, and psychiatry.