Carlo Minetti

Summary

Affiliation: University of Genoa
Country: Italy

Publications

  1. 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
  2. pmc Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants
    Eugenio Baraldi
    SIMRI Società Italiana per le Malattie Respiratorie Infantili, Italy
    Ital J Pediatr 40:65. 2014
  3. ncbi request reprint Early signs of gait deviation in Duchenne muscular dystrophy
    L Doglio
    Department of Neuroscience and Rehabilitation, G Gaslini Institute and University of Genoa, Genoa, Italy
    Eur J Phys Rehabil Med 47:587-94. 2011
  4. 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
  5. 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
  6. 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
  7. 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
  8. doi request reprint Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
    Monica Traverso
    Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
    Eur J Paediatr Neurol 17:108-11. 2013
  9. doi request reprint Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
    Francesca Madia
    Laboratory of Human Genetics, Galliera Hospitals, Genoa, Italy
    Neurogenetics 9:139-42. 2008
  10. 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

Detail Information

Publications71

  1. 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...
  2. pmc Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants
    Eugenio Baraldi
    SIMRI Società Italiana per le Malattie Respiratorie Infantili, Italy
    Ital J Pediatr 40:65. 2014
    ....
  3. ncbi request reprint Early signs of gait deviation in Duchenne muscular dystrophy
    L Doglio
    Department of Neuroscience and Rehabilitation, G Gaslini Institute and University of Genoa, Genoa, Italy
    Eur J Phys Rehabil Med 47:587-94. 2011
    ..There are few studies about DMD gait patterns, most of them concerning small groups of patients, sometimes not homogeneous, in which the clinical manifestations of the next stages of DMD were present...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. doi request reprint Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
    Monica Traverso
    Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
    Eur J Paediatr Neurol 17:108-11. 2013
    ....
  9. doi request reprint Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
    Francesca Madia
    Laboratory of Human Genetics, Galliera Hospitals, Genoa, Italy
    Neurogenetics 9:139-42. 2008
    ..The identification of causative mutations in BAFME requires an extensive and collaborative screening effort...
  10. 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...
  11. ncbi request reprint Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
    Epilepsia 48:1092-6. 2007
    ..To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome)...
  12. doi request reprint Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
    Federico Zara
    Laboratory of Neurogenetics, Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Epilepsia 54:425-36. 2013
    ....
  13. 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...
  14. doi request reprint Hypomyelination and congenital cataract: broadening the clinical phenotype
    Roberta Biancheri
    Department of Neuroscience, G Gaslini Institute, Genova, Italy
    Arch Neurol 68:1191-4. 2011
    ..To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A...
  15. 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...
  16. 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...
  17. doi request reprint Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization
    Pasquale Striano
    Laboratory of Neurogenetics, Department of Neuroscience, Institute G Gaslini, Largo Gaslini 5, Genoa, Italy
    Arch Neurol 69:322-30. 2012
    ..To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy...
  18. 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...
  19. 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...
  20. 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...
  21. doi request reprint Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy
    Riccardo Papa
    Paediatric Neurology and Neuromuscular Disorders Unit, Istituto G Gaslini, Genoa, Italy
    Pediatr Neurol 55:58-63. 2016
    ..Clinical features of DMD carriers during childhood are poorly known...
  22. doi request reprint Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
    Nicola Vanni
    Department of Neuroscience, Institute G Gaslini, Genoa, Italy
    Ann Neurol 76:206-12. 2014
    ..Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders...
  23. doi request reprint EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta Biancheri
    Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
    J Neurol 260:1866-70. 2013
    ..These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia...
  24. 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...
  25. 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
    ....
  26. 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...
  27. doi request reprint Refractory, life-threatening status epilepticus in a 3-year-old girl
    Pasquale Striano
    Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy
    Lancet Neurol 7:278-84. 2008
  28. 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...
  29. 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...
  30. doi request reprint Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis
    Elisabetta Gazzerro
    Unit of Pediatric Neurology and Muscle Disease, Istituto Giannina Gaslini, Genova, Italy
    Am J Pathol 185:3349-60. 2015
    ....
  31. 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...
  32. 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...
  33. ncbi request reprint Inherited neuromyotonia: a clinical and genetic study of a family
    Antonio Falace
    Neuromuscular and Neurodegenerative Disease Unit, University of Genova, G Gaslini Institute, Genova, Italy
    Neuromuscul Disord 17:23-7. 2007
    ..Further studies of familial cases will shed light on the molecular basis of inherited neuromyotonia...
  34. doi request reprint Respiratory pattern in a FSHD pediatric population
    Federica Trucco
    Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy Electronic address
    Respir Med 119:78-80. 2016
    ..Respiratory volumes correlate with clinical severity and expiratory phase is specifically affected in comparison to other muscular dystrophies...
  35. pmc Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein
    Elisabetta Gazzerro
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genoa, Genoa, Italy
    PLoS ONE 7:e32180. 2012
    ..As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination...
  36. doi request reprint Familial benign nonprogressive myoclonic epilepsies
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Epilepsia 50:37-40. 2009
    ....
  37. ncbi request reprint Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    Elena Gennaro
    Laboratory of Muscle Pathology and Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Italy
    Biochem Biophys Res Commun 341:489-93. 2006
    ..The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods...
  38. ncbi request reprint Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy
    Pasquale Striano
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy Neurology Unit, Sant Anna Hospital, Como, Italy and Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
    Clin Neuropharmacol 39:281-287. 2016
    ....
  39. pmc White matter involvement in a family with a novel PDGFB mutation
    Roberta Biancheri
    Dubowitz Neuromuscular Service R B, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom Unit of Neuroradiology M S, Laboratorio di Neurogenetica e Neuroscienze A R, M I, F Z, G Gaslini Institute, Genova, Italy Neurology Unit M D S, E O Galliera Hospital, Genova, Italy Pediatric Neurology and Muscular Diseases Unit C M, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy and Department of Advanced Biomedical Sciences M C, M D B D C, Federico II University, Naples, Italy
    Neurol Genet 2:e77. 2016
    ..1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5). ..
  40. doi request reprint The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
    Stefania Assereto
    Unit of Paediatric Neurology and Muscle Diseases, G Gaslini Institute, Genoa, Italy
    Lab Invest 96:862-71. 2016
    ..This finding highlights TRIM32 as a possible therapeutic target to favor skeletal muscle regeneration in DMD patients. ..
  41. doi request reprint Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation
    Giacomo Brisca
    Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy
    Biochem Biophys Res Commun 458:601-4. 2015
    ..3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies. ..
  42. doi request reprint Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature
    Marianna Pezzella
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, Genova, Italy
    Seizure 19:132-5. 2010
    ..The literature data about the electroclinical features of epilepsy in GMS are also reviewed...
  43. doi request reprint Magnetic resonance imaging "tigroid pattern" in Alexander disease
    Roberta Biancheri
    Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Neuropediatrics 44:174-6. 2013
    ..This pattern has been previously described in only a few different neurologic conditions, including Pelizaeus-Merzbacher disease and some lysosomal disorders. This report expands the spectrum of MRI features in AD...
  44. 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
    ....
  45. pmc TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
    Antonio Falace
    Department of Neuroscience, Institute G Gaslini and University of Genova, Italy
    Am J Hum Genet 87:365-70. 2010
    ....
  46. doi request reprint Safety of Overnight Switch from Brand-Name to Generic Levetiracetam
    Maria Stella Vari
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy
    Clin Drug Investig 36:87-91. 2016
    ..The objective of this study was to evaluate the safety and tolerability of the brand-to-generic levetiracetam switch in patients with focal or generalized epilepsy...
  47. 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
    ....
  48. ncbi request reprint Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families
    Pasquale Striano
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Genova, and Division of Neurology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Epilepsia 47:1029-34. 2006
    ..Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis...
  49. 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...
  50. ncbi request reprint Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
    I Carbone
    Servizio Malattie Neuro Muscolari, Universita di Genova, Istituto G Gaslini, Italy
    Neurology 54:1373-6. 2000
    ..Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia...
  51. 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...
  52. ncbi request reprint Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G Gaslini, Largo G Gaslini 5, Genova, Italy
    Eur J Paediatr Neurol 11:175-7. 2007
    ..The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD...
  53. 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...
  54. 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...
  55. doi request reprint Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
    V Viassolo
    Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy, and Laboratory of Genetics, Galliera Hospital, Genova, Italy
    Clin Genet 74:54-60. 2008
    ..The implications for genetic counselling were also discussed, with regard to the procedures that may be offered to families suffering from a multisystem disorder with high risk of cognitive decline...
  56. 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...
  57. ncbi request reprint Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition
    Cristina Capanni
    Lab Biologia Cellulare e Microscopia Elettronica IOR, Bologna, Italy
    Exp Mol Med 35:538-44. 2003
    ..These results underline the importance of dysferlin-caveolin 3 relationship for skeletal muscle integrity and propose a cellular model to clarify the dysferlin alteration mechanisms in caveolinopathies...
  58. pmc Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases
    Federica Sotgia
    Departments of Molecular Pharmacology and Cell Biology, and The Albert Einstein Cancer Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Am J Pathol 163:2619-34. 2003
    ....
  59. ncbi request reprint Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease
    Federica Sotgia
    Department of Molecular Pharmacology, The Albert Einstein Cancer Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Am J Physiol Cell Physiol 285:C1150-60. 2003
    ..We propose a haploinsufficiency model in which reduced levels of wild-type caveolin-3, although not rendered dysfunctional due to the caveolin-3 R26Q mutant protein, are insufficient for normal muscle cell function...
  60. ncbi request reprint A novel SCN2A mutation in family with benign familial infantile seizures
    Pasquale Striano
    Epilepsia 47:218-20. 2006
    ..Additional families with the infantile form of benign familial seizures should be investigated to corroborate that BFIS and BFNIS may share the same genetic abnormality...
  61. 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...
  62. ncbi request reprint Motor function-muscle strength relationship in spinal muscular atrophy
    Luciano Merlini
    Neuromuscular Unit, Istituto Ortopedico Rizzoli, Via Pupilli 1, 40136 Bologna, Italy
    Muscle Nerve 29:548-52. 2004
    ..This study shows a good relationship between motor ability and muscle strength in SMA and confirms that age-related loss of function in SMA is due to loss of muscle strength...
  63. pmc Caveolin-1 deficiency (-/-) conveys premalignant alterations in mammary epithelia, with abnormal lumen formation, growth factor independence, and cell invasiveness
    Federica Sotgia
    Department of Molecular Pharmacology, Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461, USA
    Am J Pathol 168:292-309. 2006
    ..Primary cultures of Cav-1-deficient mammary epithelia will provide a valuable new model to study the spatial/temporal progression of mammary cell transformation...
  64. ncbi request reprint Localized treatment with a novel FDA-approved proteasome inhibitor blocks the degradation of dystrophin and dystrophin-associated proteins in mdx mice
    Gloria Bonuccelli
    Kimmel Cancer Center, Department of Cancer Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Cell Cycle 6:1242-8. 2007
    ..Clearly, more investigations are needed, but our results emphasize the effectiveness of the pharmacological approach as a potential treatment for Duchenne muscular dystrophy...
  65. ncbi request reprint Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study
    Luciano Merlini
    Neuromuscular Unit, Istituto Ortopedico Rizzoli, Bologna, Italy
    J Child Neurol 18:537-41. 2003
    ..The treatment had no effect on forced vital capacity or timed functional tests...
  66. pmc Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells
    Federica Sotgia
    Department of Molecular Pharmacology, The Albert Einstein Cancer Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Cell Biol 22:3905-26. 2002
    ..In further support of these findings, GPI-linked proteins were also retained intracellularly in tissue samples derived from Cav-1 null mice (i.e., lung endothelial and renal epithelial cells) and Cav-3 null mice (skeletal muscle fibers)...
  67. ncbi request reprint Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy
    Pasquale Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy
    Epilepsia 46:1993-5. 2005
    ..5 years of follow-up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition...
  68. pmc Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins
    Gloria Bonuccelli
    Department of Molecular Pharmacology and The Albert Einstein Cancer Center, Albert Einstein School of Medicine, Bronx, New York 10461, USA
    Am J Pathol 163:1663-75. 2003
    ..Thus, the current study opens new and important avenues in our understanding of the pathogenesis of DMD. Most importantly, these new findings may have clinical implications for the pharmacological treatment of patients with DMD...
  69. ncbi request reprint Altered aquaporin-4 expression in human muscular dystrophies: a common feature?
    Antonio Frigeri
    Dipartimento di Fisiologia Generale ed Ambientale and Centro di Eccellenza in Genomica Comparata, Universita degli Studi di Bari, I 70126 Bari, Italy
    FASEB J 16:1120-2. 2002
    ..These experiments provide the first evidence of AQP4 reduction in a human pathology and show that this deficiency is an important feature of DMD/BMD...
  70. ncbi request reprint International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials
    Lucy R Wedderburn
    University College London, London, UK
    Arthritis Rheum 57:1192-201. 2007
    ..To devise and test a system with which to evaluate abnormalities on muscle biopsy samples obtained from children diagnosed with juvenile dermatomyositis (DM)...
  71. 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...