Claudio Bruno

Summary

Affiliation: G. Gaslini Institute
Country: Italy

Publications

  1. ncbi request reprint Congenital myopathies
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G Gaslini 5, I 16147 Genova, Italy
    Curr Neurol Neurosci Rep 4:68-73. 2004
  2. pmc Neuromuscular forms of glycogen branching enzyme deficiency
    C Bruno
    Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto Giannina Gaslini, Genova, Italy
    Acta Myol 26:75-8. 2007
  3. ncbi request reprint McArdle disease: the mutation spectrum of PYGM in a large Italian cohort
    Claudio Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Hum Mutat 27:718. 2006
  4. ncbi request reprint Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G Gaslini 5, I 16147 Genova, Italy
    Neurology 63:1053-8. 2004
  5. doi request reprint Lipid storage myopathies
    Claudio Bruno
    Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, Genova, Italy
    Curr Opin Neurol 21:601-6. 2008
  6. ncbi request reprint Clinical and molecular findings in patients with giant axonal neuropathy (GAN)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Neurology 62:13-6. 2004
  7. ncbi request reprint Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G Gaslini 5, I 16147, Genova, Italy
    Muscle Nerve 28:508-11. 2003
  8. ncbi request reprint Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene
    Claudio Bruno
    Department of Pediatrics, University of Genova, Italy
    J Child Neurol 18:300-3. 2003
  9. doi request reprint Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene
    Claudio Bruno
    Unit of Muscular and Neurodegenerative Disease, IRCCS G Gaslini Institute, Genova, Italy
    Biochem Biophys Res Commun 412:518-21. 2011
  10. ncbi request reprint A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
    J Child Neurol 17:233-6. 2002

Detail Information

Publications47

  1. ncbi request reprint Congenital myopathies
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G Gaslini 5, I 16147 Genova, Italy
    Curr Neurol Neurosci Rep 4:68-73. 2004
    ..This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses...
  2. pmc Neuromuscular forms of glycogen branching enzyme deficiency
    C Bruno
    Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto Giannina Gaslini, Genova, Italy
    Acta Myol 26:75-8. 2007
    ..This review will addresses the neuromuscular clinical variants, focusing on the molecular genetics aspects of this disorder...
  3. ncbi request reprint McArdle disease: the mutation spectrum of PYGM in a large Italian cohort
    Claudio Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Hum Mutat 27:718. 2006
    ..R50X) accounted for about 43% of alleles in our cohort and that no population-related mutations are clearly identified in Italian patients...
  4. ncbi request reprint Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G Gaslini 5, I 16147 Genova, Italy
    Neurology 63:1053-8. 2004
    ..The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or adult) and severity...
  5. doi request reprint Lipid storage myopathies
    Claudio Bruno
    Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, Genova, Italy
    Curr Opin Neurol 21:601-6. 2008
    ..The aim of this review is to provide an update on disorders of lipid metabolism affecting skeletal muscle exclusively or predominantly and to summarize recent clinical, genetic, and therapeutic studies in this field...
  6. ncbi request reprint Clinical and molecular findings in patients with giant axonal neuropathy (GAN)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Neurology 62:13-6. 2004
    ..This study shows the allelic heterogeneity of GAN and expands the spectrum of mutations in the GAN gene. The frequent occurrence of private mutations stresses the importance of a complete gene analysis...
  7. ncbi request reprint Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G Gaslini 5, I 16147, Genova, Italy
    Muscle Nerve 28:508-11. 2003
    ..Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis...
  8. ncbi request reprint Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene
    Claudio Bruno
    Department of Pediatrics, University of Genova, Italy
    J Child Neurol 18:300-3. 2003
    ....
  9. doi request reprint Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene
    Claudio Bruno
    Unit of Muscular and Neurodegenerative Disease, IRCCS G Gaslini Institute, Genova, Italy
    Biochem Biophys Res Commun 412:518-21. 2011
    ..Mt-tRNA(Asn) steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children...
  10. ncbi request reprint A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
    J Child Neurol 17:233-6. 2002
    ....
  11. ncbi request reprint Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, Giannina Gaslini Institute, University of Genova, Genova, Italy
    Neuromuscul Disord 12:498-500. 2002
    ..Our data further expand the genetic heterogeneity in patients with McArdle's disease, suggesting that the possibility of novel mutations has to be taken into account when performing genetic analysis in distinct ethnic groups...
  12. ncbi request reprint Phenotypic characterization of hypomyelination and congenital cataract
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
    Ann Neurol 62:121-7. 2007
    ..3-p15.3...
  13. doi request reprint Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro
    Monica Traverso
    Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Paediatric Institute, Genoa, Italy
    Lab Invest 88:275-83. 2008
    ..In conclusion, CAV3 T78M and T78K mutations lead to distinct disorders showing different clinical features and inheritance, and displaying distinct phenotypes in vitro...
  14. ncbi request reprint Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, Department of Pediatrics of University of Genova, Department of Neuroscience and Rehabilitation, G Gaslini Institute, Genoa, Italy
    Cell Cycle 7:2199-207. 2008
    ..In conclusion, AQP4 expression and membrane localization are markedly reduced in LGMD 2B-2F. The role of AQP4 in the degenerative mechanism occurring in these diseases will be the object of our future research...
  15. pmc Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies
    Elisabetta Gazzerro
    University of Genoa, G Gaslini Institute, Largo G Gaslini 5, I 16147 Genoa, Italy
    Am J Pathol 176:1863-77. 2010
    ....
  16. ncbi request reprint POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy
    Arch Neurol 63:1491-5. 2006
    ..Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations...
  17. ncbi request reprint POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy
    Biochem Biophys Res Commun 363:1033-7. 2007
    ..Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N...
  18. ncbi request reprint Null mutations and lethal congenital form of glycogen storage disease type IV
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G Gaslini 5, I 16147 Genova, Italy
    Biochem Biophys Res Commun 361:445-50. 2007
    ..W548X). These data underscore that in GSD-IV a severe phenotype correlates with null mutations, and indicate that RNA analysis is necessary to characterize functional consequences of intronic mutations...
  19. ncbi request reprint Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene
    Monica Traverso
    Unit of Muscular and Neurodegenerative Disease, University of Genova and Institute G Gaslini, Genoa, Italy
    Biochem Biophys Res Commun 339:145-50. 2006
    ..Q-PCR is a valuable tool for independent confirmation of EPFA screening, particularly when deletions/duplications of single exons occur or for rapid identification of known mutations in at risk carriers...
  20. ncbi request reprint Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    AJNR Am J Neuroradiol 24:1188-91. 2003
    ..MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations...
  21. doi request reprint Clinical and genetic characterization of Chanarin-Dorfman syndrome
    Claudio Bruno
    Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy
    Biochem Biophys Res Commun 369:1125-8. 2008
    ..Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease...
  22. ncbi request reprint Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
    Denise Cassandrini
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Italy
    J Child Neurol 21:983-5. 2006
    ..This deletion was absent in the blood DNA of his mother and brother. This case further expands and confirms the wide clinical spectrum of mitochondrial disorders associated with single large-scale mitochondrial DNA deletions...
  23. doi request reprint The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
    Marina Grandis
    Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via De Toni 5, 16132, Genoa, Italy
    Neurol Sci 31:377-80. 2010
    ..The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression...
  24. ncbi request reprint Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Pediatric Institute, Genoa, Italy
    Am J Physiol Cell Physiol 290:C577-82. 2006
    ..Am J Pathol 163: 1663-1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans...
  25. doi request reprint Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
    Roberta Biancheri
    Child Neurology and Psychiatry Unit, G Gaslini Pediatric Institute, Genova, Italy
    J Inherit Metab Dis 34:1225-7. 2011
    ....
  26. ncbi request reprint Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
    Federico Zara
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Italy
    Nat Genet 38:1111-3. 2006
    ..We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination...
  27. pmc Caveolinopathies: from the biology of caveolin-3 to human diseases
    Elisabetta Gazzerro
    Department of Paediatrics, Muscular and Neurodegenerative Disease Unit, University of Genova, G Gaslini Institute, Genova, Italy
    Eur J Hum Genet 18:137-45. 2010
    ..This review will address caveolin-3 biological functions in muscle cells and will describe the muscle and heart disease phenotypes associated with caveolin-3 mutations...
  28. ncbi request reprint Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis
    Carlo Minetti
    Neuromuscular Disease Unit, University of Genova and G Gaslini Institute, Genoa, Italy
    Biochem Biophys Res Commun 333:540-3. 2005
    ..The selective expression of CCR7 in JDM may open new perspectives in the understanding of the pathogenesis of inflammatory myopathies, offering a new tool for the differential diagnosis of these disorders...
  29. ncbi request reprint Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genoa, Genoa, Italy
    Epilepsy Behav 10:187-91. 2007
    ..Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling...
  30. ncbi request reprint Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia
    M Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genoa, Italy
    Am J Med Genet A 118:362-8. 2003
    ..An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities...
  31. ncbi request reprint Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder
    A Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 29:301-5. 2008
    ..We aimed to describe the neuroimaging features of this novel entity...
  32. pmc Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation
    Monica Bandettini di Poggio
    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCSS Azienda Opedaliera Universitaria San Martino IST, Largo Daneo 3 16132, Genova, Italy
    BMC Med Genet 14:105. 2013
    ..Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production...
  33. pmc Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
    Carlo Minetti
    Servizio Malattie Neuro Muscolari, Dipartimento di Pediatria, Universita di Genova, Istituto G Gaslini, Genova, Italy
    Am J Pathol 160:265-70. 2002
    ..These observations provide new perspectives in our understanding of the role of caveolin-3 in muscle and of the pathogenesis of muscle weakness in caveolin-3 deficient muscle...
  34. ncbi request reprint Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria
    C Minetti
    Department of Paediatrics, University of Genova, Italy
    Neuromuscul Disord 8:3-6. 1998
    ..The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen...
  35. ncbi request reprint Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    C Minetti
    Servizio Malattie Neuro Muscolari, Universita di Genova, Istituto Giannina Gaslini, Genoa, Italy
    Nat Genet 18:365-8. 1998
    ..These mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane...
  36. pmc Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
    L Merlini
    Neuromuscular Disease Unit, Istituto Ortopedico Rizzoli, Bologna, Italy
    J Neurol Neurosurg Psychiatry 73:65-7. 2002
    ..It expands the genetic heterogeneity in patients with caveolin-3 deficiency and confirms that caveolin-3 deficiency should be considered in the differential diagnosis of isolated hyperCKaemia...
  37. pmc Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation
    William Schubert
    Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, New York, USA
    Am J Pathol 170:316-33. 2007
    ..Consistent with this hypothesis, skeletal muscle isolated from male Cav-3(-/-) mice did not show any of these abnormalities. As such, this is the first study linking stem cells with the genesis of these intriguing muscle defects...
  38. pmc Respiratory complex III is required to maintain complex I in mammalian mitochondria
    Rebeca Acín-Pérez
    Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Miguel Servet, 177, Zaragoza 50013, Spain
    Mol Cell 13:805-15. 2004
    ..Conversely, complex III stability was not influenced by the absence of complex I. This structural dependence among complexes I and III was confirmed in a muscle biopsy of a patient harboring a nonsense cytochrome b mutation...
  39. pmc Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
    Benedikt Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Mol Genet Metab 95:52-8. 2008
    ..Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease...
  40. ncbi request reprint Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    Hum Mutat 23:632. 2004
    ..Interestingly, in two of our families distinct mutations affected nucleotide c.616 in exon 3 (c.616delG and c.616G>A). The possibility of specific portions of the gene being more prone to mutations remains to be elucidated...
  41. doi request reprint Peroxisomal acyl-CoA-oxidase deficiency: two new cases
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Am J Med Genet A 146:1676-81. 2008
    ..Mutation analysis in the second patient revealed compound heterozygosity for two mutations, including: (1) a c.692 G > T (p.G231V) mutation and (2) skipping of exon 13 (c.1729_1935del (p.G577_E645del)...
  42. ncbi request reprint The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy
    Vittoria Petruzzella
    Department of Medical Biochemistry, Medical Biology and Medical Physics, University of Bari, Piazza G Cesare 11, 70124 Bari, Italy
    Biochem Biophys Res Commun 355:181-7. 2007
    ..Also, the gene was not affected in 11 children with a severe encephalopathy associated with decreased complex I activity in skeletal muscle...
  43. ncbi request reprint Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean
    Natalia Cannelli
    Molecular Medicine IRCCS Children Hospital Bambino Gesù Piazza S Onofrio, 4 00165, Rome, Italy
    Neurogenetics 7:111-7. 2006
    ..The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population...
  44. ncbi request reprint Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene
    Roberto Massa
    Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy
    Muscle Nerve 37:530-6. 2008
    ....
  45. ncbi request reprint Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
    Mario Pescatori
    Institute of Neurology, Catholic University, L go A Gemelli 8, 0018, Rome, Italy
    FASEB J 21:1210-26. 2007
    ....
  46. ncbi request reprint A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
    Denise Cassandrini
    Unit of Muscular and Neurodegenerative Diseases, University of Genoa, Genoa, Italy
    Biochem Biophys Res Commun 342:387-93. 2006
    ....
  47. ncbi request reprint Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase
    Hasan O Akman
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA, and Department of Cardiology, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
    Pediatr Res 62:499-504. 2007
    ..Our studies confirm that mutations in PRKAG2 can cause fatal infantile cardiomyopathy, often associated with apparent PHK deficiency...