Enrico Bertini

Summary

Country: Italy

Publications

  1. ncbi 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
    E Bertini
    Department of Laboratories, Unit of Molecular Medicine, Bambino Gesù Childrens Hospital, P za S Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 14:387-96. 2004
  2. ncbi Mitochondrial encephalomyopathies and related syndromes: brief review
    Enrico Bertini
    Bambino Gesu Children s Research Hospital, Department of Laboratory Medicine, Rome, Italy
    Endocr Dev 14:38-52. 2009
  3. ncbi "Bartter-like" phenotype in Kearns-Sayre syndrome
    Francesco Emma
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    Pediatr Nephrol 21:355-60. 2006
  4. ncbi Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
    Gabriella Di Rosa
    Division of Metabolism, Bambino Gesu Children s Research Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:546-50. 2006
  5. ncbi Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2
    Albino Petrone
    Respiratory Unit, Bambino Gesu Children Hospital, Research Institute, Rome, Italy
    Am J Phys Med Rehabil 86:216-21. 2007
  6. pmc The empowerment of translational research: lessons from laminopathies
    Sara Benedetti
    National Research Council of Italy, Institute of Molecular Genetics, IGM CNR, Unit of Bologna, Via Di Barbiano 1 10, 40136, Bologna, Italy
    Orphanet J Rare Dis 7:37. 2012
  7. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
  8. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
  9. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
  10. ncbi Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation
    E Bertini
    Unit of Molecular Medicine, Division of Metabolism, Bambino Gesù Children s Hospital Rome and Palidoro, Italy
    Neuropediatrics 36:309-13. 2005

Detail Information

Publications149 found, 100 shown here

  1. ncbi 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
    E Bertini
    Department of Laboratories, Unit of Molecular Medicine, Bambino Gesù Childrens Hospital, P za S Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 14:387-96. 2004
  2. ncbi Mitochondrial encephalomyopathies and related syndromes: brief review
    Enrico Bertini
    Bambino Gesu Children s Research Hospital, Department of Laboratory Medicine, Rome, Italy
    Endocr Dev 14:38-52. 2009
    ....
  3. ncbi "Bartter-like" phenotype in Kearns-Sayre syndrome
    Francesco Emma
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    Pediatr Nephrol 21:355-60. 2006
    ..In these cases aldosterone-responsive tubular structures have been spared during renal embryogenesis, allowing for the development of hypokalaemic alkalosis in response to salt and water losses from the more damaged tubular segments...
  4. ncbi Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
    Gabriella Di Rosa
    Division of Metabolism, Bambino Gesu Children s Research Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:546-50. 2006
    ..This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria...
  5. ncbi Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2
    Albino Petrone
    Respiratory Unit, Bambino Gesu Children Hospital, Research Institute, Rome, Italy
    Am J Phys Med Rehabil 86:216-21. 2007
    ..Our aim was to assess the efficacy of noninvasive ventilation (NIV) for the treatment of thoracoabdominal asynchrony during sleep in children with spinal muscular atrophy (SMA) types 1 and 2...
  6. pmc The empowerment of translational research: lessons from laminopathies
    Sara Benedetti
    National Research Council of Italy, Institute of Molecular Genetics, IGM CNR, Unit of Bologna, Via Di Barbiano 1 10, 40136, Bologna, Italy
    Orphanet J Rare Dis 7:37. 2012
    ....
  7. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
    ..Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial...
  8. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  9. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
    ....
  10. ncbi Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation
    E Bertini
    Unit of Molecular Medicine, Division of Metabolism, Bambino Gesù Children s Hospital Rome and Palidoro, Italy
    Neuropediatrics 36:309-13. 2005
    ..Two serial biopsies performed at age 8 and 15 years showed similar findings of multiple esterase-positive vacuoles in type I myofibers. In both patients the immunohistochemical study demonstrated the absence of LAMP-2 in skeletal muscle...
  11. ncbi 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands
    E Bertini
    Department of Laboratories, Unit of Molecular Medicine, Bambino Gesu Children s Research Hospital, Piazza S Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 15:802-16. 2005
  12. pmc Congenital muscular dystrophies: a brief review
    Enrico Bertini
    Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Diseases and Department of Neurosciences, IRCCS Children s Hospital Bambino Gesù, Rome, Italy
    Semin Pediatr Neurol 18:277-88. 2011
    ....
  13. ncbi X-linked congenital ataxia: a clinical and genetic study
    E Bertini
    Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Am J Med Genet 92:53-6. 2000
    ....
  14. ncbi [Congenital ataxias of genetic origin with structural anomalies of the cerebellum]
    E Bertini
    Division de Neurología Pediátrica, Ospedale Bambino Gesu, Roma, Italia
    Rev Neurol 28:63-8. 1999
    ....
  15. ncbi Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
    Enrico Bertini
    Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu Hospital, IRCCS Rome, Italy
    Eur J Paediatr Neurol 6:193-8. 2002
  16. doi Protein glutathionylation in cellular compartments: a constitutive redox signal
    Stefania Petrini
    Laboratories of Research, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Redox Rep 17:63-71. 2012
    ....
  17. doi Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities
    Marco Sparaco
    Division of Neurology, Department of Neurosciences, Azienda Ospedaliera G Rummo, 82100 Benevento, Italy
    J Neurol Sci 287:111-8. 2009
    ..Our results suggest that in FRDA oxidative stress causes abnormally increased protein glutathionylation leading to prominent abnormalities of the neuronal cytoskeleton...
  18. doi TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
    Alessandra Torraco
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Neurogenetics 13:375-86. 2012
    ....
  19. doi Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions
    Chiara Passarelli
    Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    Cytoskeleton (Hoboken) 67:81-9. 2010
    ....
  20. ncbi Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
    Stefania Petrini
    Unit of Molecular Medicine, Bambino Gesù Hospital IRCCS, P zza S Onofrio 4, 00165 Rome, Italy
    Mol Cell Neurosci 30:408-17. 2005
    ..MCSP/NG2 proteoglycan may be considered an important receptor mediating COL6-sarcolemma interactions, a relationship that is disrupted by the pathogenesis of UCMD muscle...
  21. doi Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS Rome, Italy
    Mol Genet Metab 109:208-14. 2013
    ....
  22. ncbi Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
    Stefania Petrini
    Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 17:587-96. 2007
    ..We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect...
  23. pmc Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
    Lorena Travaglini
    1 IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory San Giovanni Rotondo, San Giovanni Rotondo, Italy 2 Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Eur J Hum Genet 21:1074-8. 2013
    ..Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. ..
  24. ncbi Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
    Guglielmina Pepe
    Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy
    Neuromuscul Disord 12:984-93. 2002
  25. doi EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome
    Diego Martinelli
    Bambino Gesu Children s Hospital, IRCCS, Division of Metabolism, Piazza S Onofrio 4, 00165 Rome, Italy
    Mol Genet Metab 107:383-8. 2012
    ..To confirm these initial findings, a phase 2A open label trial of EPI-743 for children with genetically-confirmed Leigh syndrome was conducted and herein we report the results...
  26. pmc The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
    Alessandra Terracciano
    Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy
    Eur J Paediatr Neurol 16:248-56. 2012
    ..We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI...
  27. ncbi Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease
    Fiorella Piemonte
    Molecular Medicine Unit, Chemistry Laboratory, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    J Gastroenterol Hepatol 23:e457-64. 2008
    ..In this study, we analyzed the protein glutathionylation in non-alcoholic fatty liver disease (NAFLD) and evaluated a potential association between glutathionylation, fibrosis, and vitamin E treatment...
  28. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  29. doi Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort
    Fabiana Fattori
    Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children s Hospital, Viale San Paolo 15, 00146, Rome, Italy
    J Neurol 262:1728-40. 2015
    ....
  30. ncbi AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy
    Ann Neurol 59:527-34. 2006
    ..The frequency of mutations in the first positionally cloned gene, AHI1, is unknown...
  31. doi Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders
    Teresa Rizza
    Bambino Gesu Children s Hospital, Rome, Italy
    Biochem Biophys Res Commun 383:58-62. 2009
    ..In the light of our results this assessment emerges as a useful marker of impaired energy production in primary OXPHOS disorders of childhood and as a tool with the potential to drive further molecular genetic studies...
  32. doi PRRT2 is mutated in familial and non-familial benign infantile seizures
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio 4, 00165 Rome, Italy
    Eur J Paediatr Neurol 17:77-81. 2013
    ..Mutations of protein-rich transmembrane protein 2 (PRRT2) were recently associated to benign familial infantile seizures (BFIS) (MIM 605751) and paroxysmal kinesigenic dyskinesias (PKD) (MIM12800)...
  33. pmc Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function
    Claudia Compagnucci
    Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Stem Cells Transl Med 5:860-9. 2016
    ....
  34. pmc Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis
    Barbara Carletti
    Unit for Neuromuscular and Neurodegenerative Diseases, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
    Int J Mol Sci 15:5789-806. 2014
    ..Thus, NSC34 frataxin silenced cells could be a suitable model to study the effect of frataxin deficiency in neurons and highlight glutathione as a potential beneficial therapeutic target for FRDA. ..
  35. doi Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts
    Stefania Petrini
    Confocal Microscopy Core Facility, Research Center, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio 4, 00165 Rome, Italy Electronic address
    Mol Cell Neurosci 56:307-21. 2013
    ....
  36. doi Myosin as a potential redox-sensor: an in vitro study
    Chiara Passarelli
    Molecular Medicine Unit, Children s Hospital and Research Institute Bambino Gesu, Department of Biology, University of Rome Roma Tre, P za S Onofrio, 4, Rome, 00165, Italy
    J Muscle Res Cell Motil 29:119-26. 2008
    ..Thus, like the phosphorylation/dephosphorylation cycle, glutathionylation may represent a mechanism by which glutathione modulates sarcomere functions depending on the tissue redox state, and myosin may constitute a muscle redox-sensor...
  37. ncbi COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement
    Francesca Diomedi-Camassei
    Divisions of Pathology, Department of Laboratory Medicine, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    J Am Soc Nephrol 18:2773-80. 2007
    ..COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells...
  38. pmc MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
    Francesco Brancati
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 30:E432-42. 2009
    ..These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs...
  39. pmc Expanding CEP290 mutational spectrum in ciliopathies
    Lorena Travaglini
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Am J Med Genet A 149:2173-80. 2009
    ..Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified...
  40. ncbi SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Brain 130:862-74. 2007
    ..We confirm and extend the findings on this inborn error of metabolism in the TCA cycle that must be carefully investigated by accurate metabolite analyses...
  41. doi PCDH19-related epilepsy in two mosaic male patients
    Alessandra Terracciano
    Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 57:e51-5. 2016
    ..This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients. ..
  42. pmc Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy
    Eugenio Mercuri
    Department of Paediatric Neurology, Catholic University, and Nemo Roma center for neuromuscular disorders, Rome, Italy
    PLoS ONE 11:e0160195. 2016
    ..In conclusion, our study suggests that a revised version of the NSAA can be used in boys from the age of 3 years to obtain information on how young DMD boys acquire new abilities and how this correlates with their peers. ..
  43. doi Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy
    Roberto De Sanctis
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 25:14-8. 2015
    ..Longitudinal natural history data studies are needed to assess possible changes over time and the possible effect of early steroids. ..
  44. doi Early neurodevelopmental assessment in Duchenne muscular dystrophy
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 23:451-5. 2013
    ....
  45. pmc Glutathione imbalance in patients with X-linked adrenoleukodystrophy
    Sara Petrillo
    Unit for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Mol Genet Metab 109:366-70. 2013
    ....
  46. doi Glutathione metabolism in cobalamin deficiency type C (cblC)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, 4 00165, Rome, Italy
    J Inherit Metab Dis 37:125-9. 2014
    ..To evaluate the potential contribution of oxidative stress into the patophysiology of cblC defect, we have analyzed the in vivo glutathione metabolism in a large series of cblC deficient individuals...
  47. doi Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
    Marianna Ciccolella
    Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Research Hospital, Rome, Italy
    J Med Genet 50:104-7. 2013
    ..Causative mutations in genes encoding human riboflavin transporter 2 (hRFT2) and 3 (hRFT3) have been identified in BVVL patients...
  48. ncbi Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
    Adele d'Amico
    Unit of Molecular Medicine and Pathology, Dept of Laboratory Medicine, Bambino Gesu Children s Research Hospital, Rome, Italy
    Neuromuscul Disord 16:548-52. 2006
    ..This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation...
  49. ncbi Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease
    Anna Pastore
    Laboratory of Biochemistry, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
    J Biol Chem 278:42588-95. 2003
    ..Thus, we conclude that oxidative stress may induce actin glutathionylation and impairment of cytoskeletal functions in FRDA fibroblasts...
  50. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
  51. doi MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
    Diego Martinelli
    Unit of Metabolism, Bambino Gesu Children s Hospital, IRCCS, Piazza Sant Onofrio, 4 00165 Rome, Italy
    Brain 136:872-81. 2013
    ..Our results may also contribute to understand the mechanism(s) of intracellular trafficking of copper pumps...
  52. ncbi Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy
    Adele d'Amico
    Molecular Medicine, Bambino Gesu Children s Research Hospital, P zza S Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 18:153-5. 2008
    ..Our findings add to the array of clinical presentations of FKRP mutations...
  53. ncbi Glutathione metabolism and antioxidant enzymes in children with Down syndrome
    Anna Pastore
    Laboratory of Biochemistry, Molecular Medicine Unit, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    J Pediatr 142:583-5. 2003
    ..Furthermore, we obtained a disequilibrium, in vivo, between the antioxidant enzyme activities...
  54. ncbi GSSG-mediated Complex I defect in isolated cardiac mitochondria
    Chiara Passarelli
    Molecular Medicine Unit, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    Int J Mol Med 26:95-9. 2010
    ....
  55. ncbi Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals
    Marco Sparaco
    Division of Neurology, Department of Neurosciences, Azienda Ospedaliera G Rummo, Benevento, Italy
    J Neurosci Res 83:256-63. 2006
    ..The proteins preferentially glutathionylated were cytoskeletal proteins. Our results suggest a potential role of glutathionylation in the redox regulation of neuronal survival and in the control of axon/dendrite stability...
  56. pmc Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
    Marzia Bianchi
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, Rome, Italy
    Biochem Biophys Res Commun 415:300-4. 2011
    ..Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies...
  57. pmc Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
    Marika Pane
    Child Neurology and Psychiatry Unit, Catholic University, Rome, Italy
    Neuromuscul Disord 25:749-53. 2015
    ..Our findings suggest that continuing glucocorticoids throughout teenage years and adulthood after loss of ambulation appears to have a beneficial effect on upper limb function. ..
  58. pmc A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
    Daria Diodato
    Neuromuscular and Neurodegenerative Diseases Unit, Children Research Hospital Bambino Gesù, Rome, Italy
    Eur J Hum Genet 24:463-6. 2016
    ..Our patients manifested a phenotype that included signs of both cortical and motor neuron involvement. These observations emphasize the role of AIF in the development and function of neurons. ..
  59. doi A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
    Sara Boenzi
    Laboratory of Metabolic Biochemistry, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Clin Chim Acta 437:93-100. 2014
    ..In summary, our method provides a simple, rapid and non-invasive diagnostic tool for the biochemical diagnosis of NP-C disease. ..
  60. doi Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?
    Flaviana Bianco
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuropediatrics 46:33-6. 2015
    ..The aim of our study was to detect possible signs of autonomic dysfunction and, more generally, of cardiac involvement in types II and III SMA...
  61. doi Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
    Michela Catteruccia
    Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy Electronic address
    Mol Genet Metab 111:353-9. 2014
    ....
  62. pmc Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 9:e108205. 2014
    ..Our findings will help not only to have a better idea of the progression of the disorder but also provide reference data that can be used to compare with the results of the long term extension studies that are becoming available...
  63. doi Pediatric reference intervals for muscle coenzyme Q(10)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Biomarkers 17:764-6. 2012
    ....
  64. pmc Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts
    Valentina Cazzella
    Department of Biology and Biotechnology Charles Darwin, Institut Pasteur Fondazione Cenci Bolognetti and IBPM, Rome, Italy
    Mol Ther 20:2134-42. 2012
    ....
  65. pmc Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
    Ginevra Zanni
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy
    Proc Natl Acad Sci U S A 109:14514-9. 2012
    ..It also compromised the ability of the pump to oppose the influx of Ca(2+) through the plasma membrane capacitative channels...
  66. doi All glutathione forms are depleted in blood of obese and type 1 diabetic children
    Anna Pastore
    Laboratory of Biochemistry, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    Pediatr Diabetes 13:272-7. 2012
    ..Accumulating evidence also suggests a role for oxidative stress in obesity, where it may potentiate the development of complications...
  67. ncbi Simultaneous determination of ubiquinol and ubiquinone in skeletal muscle of pediatric patients
    Anna Pastore
    Laboratory of Biochemistry, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
    Anal Biochem 342:352-5. 2005
  68. ncbi 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
    ....
  69. doi Efficacy of miglustat in Niemann-Pick C disease: a single centre experience
    Virginia Maria Ginocchio
    Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Mol Genet Metab 110:329-35. 2013
    ..02), indicating better response to therapy. We underline the importance of using a standardized disability scale to quantify and compare neurological features and their evolution over time. ..
  70. doi Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
    Marika Pane
    Child Neurology and Psychiatry Unit, Rome, Italy
    Neuromuscul Disord 24:201-6. 2014
    ..Our data suggest that the assessment can be reliably used in both ambulant and non ambulant Duchenne patients in a multicentric setting and could therefore be considered as an outcome measure for future trials. ..
  71. doi Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis
    Ginevra Zanni
    Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, IRCCS, Piazza S Onofrio, 400165 Rome, Italy
    Eur J Paediatr Neurol 17:361-5. 2013
    ....
  72. pmc 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy
    Elena Stacy Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 8:e52512. 2013
    ....
  73. doi Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype
    Carlo C Quattrocchi
    Unit of Neuroradiology, Bambino Gesu Children s Research Hospital IRCCS, Rome, Italy
    Neurogenetics 14:77-83. 2013
    ....
  74. doi Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation
    Marika Pane
    Department of Pediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy
    J Pediatr 161:705-9.e1. 2012
    ..To assess attention deficit hyperactivity disorder (ADHD) in boys affected by Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities and genetic findings...
  75. ncbi Congenital myopathies
    Adele d'Amico
    Ospedale Bambino Gesù Research Chidren s Hospital, P za S Onofrio, 4, 00165 Rome, Italy
    Curr Neurol Neurosci Rep 8:73-9. 2008
    ..Scientific progress has not only elucidated the pathologic mechanisms of these disorders, but it has also provided the basis for therapeutic strategies...
  76. pmc 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 9:e83400. 2014
    ..The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period...
  77. pmc New clinical and molecular insights on Barth syndrome
    Lorenzo Ferri
    Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence and Paediatric Neurology Unit and Laboratories, Meyer Children s Hospital, Viale Pieraccini n, 24, 50139 Florence, Italy
    Orphanet J Rare Dis 8:27. 2013
    ..It is caused by mutations in the TAZ gene encoding tafazzin, a protein involved in the metabolism of cardiolipin, a mitochondrial-specific phospholipid involved in mitochondrial energy production...
  78. ncbi Determination of glutathionyl-hemoglobin in human erythrocytes by cation-exchange high-performance liquid chromatography
    Anna Pastore
    Laboratory of Biochemistry, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio, 4, 00165 Rome, Italy
    Anal Biochem 312:85-90. 2003
    ..The availability of a simple and reproducible method to detect glutathionyl-hemoglobin concentration in blood could be useful in monitoring oxidative stress, and for investigating the efficacy of antioxidant therapies in clinical trials...
  79. ncbi 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...
  80. pmc Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort
    Michela Catteruccia
    Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Neuromuscul Disord 23:229-38. 2013
    ..The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease...
  81. ncbi Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies
    Stefania Petrini
    Unit of Molecular Medicine, Bambino Gesù Hospital IRCCS, Rome, Italy
    Mol Cell Neurosci 23:219-31. 2003
    ..We demonstrate that MCSP/NG2 is expressed in differentiated myofibers, and appears to have a role in the pathogenesis of MDC1A and severe dystrophinopathies...
  82. ncbi Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia
    Olivier Danhaive
    Laboratory of Neonatal Biology, Bambino Gesu Children s Hospital, 00165 Rome, Italy
    J Pediatr Surg 42:E19-22. 2007
    ..Congenital myopathies may underlie such diaphragmatic defects and should be promptly recognized, given their prognostic implications...
  83. pmc Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons
    Valentina D'Oria
    Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesu Children s Hospital, IRCCS, Rome 00165, Italy
    Int J Mol Sci 14:7853-65. 2013
    ..Our findings may help to focus on this promising target, especially in its emerging role in the neuroprotective response...
  84. ncbi Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia
    Clarice Patrono
    IRCCS Children s Hospital Bambino Gesù, Rome, Italy
    J Neurol 249:200-5. 2002
    ..The current study expands the spectrum of allelic variants in SPG4, confirming their pathological significance in pure AD-HSP and suggesting implications for the presumed function of spastin...
  85. doi Rituximab in a childhood-onset idiopathic refractory chronic inflammatory demyelinating polyneuropathy
    Adele d'Amico
    Unit of Neuromuscular and Neurodegenerative diseases, Department of Neurosciences, IRCCS Bambino Gesù Pediatric Children s Hospital, P zza S Onofrio 4, 00165 Rome, Italy
    Eur J Paediatr Neurol 16:301-3. 2012
    ..We report the effectiveness of Rituximab in a refractory childhood-onset CIDP and we suggest this treatment as an effective choice in unresponsive childhood CIDP...
  86. doi Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report
    Adele d'Amico
    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Hospital, Rome, Italy
    Neuromuscul Disord 22:546-8. 2012
    ....
  87. pmc Renal involvement in mitochondrial cytopathies
    Francesco Emma
    Division of Nephrology and Dialysis, Department of Nephrology and Urology, Bambino Gesu Children s Hospital and Research Institute, Piazza Sant Onofrio 4, 00165 Rome, Italy
    Pediatr Nephrol 27:539-50. 2012
    ..In this Educational Review, the principal characteristics of these diseases and the main diagnostic approaches are summarized...
  88. doi Childhood spinal muscular atrophy: controversies and challenges
    Eugenio Mercuri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Lancet Neurol 11:443-52. 2012
    ..The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale...
  89. doi Immunodeficiency in Vici syndrome: a heterogeneous phenotype
    Andrea Finocchi
    Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome Tor Vergata and Children s Hospital Bambino Gesù, Rome, Italy
    Am J Med Genet A 158:434-9. 2012
    ....
  90. doi Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family
    Filomena Pirozzi
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Hum Mutat 32:E2294-307. 2011
    ..4 turns in the third alpha-helix of the BAR domain and apparently impair the protein function. In fact, the clinical phenotype of these patients is identical to that of patients with loss-of-function mutations...
  91. pmc Spinal muscular atrophy
    Adele d'Amico
    Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children s Research Hospital, P za S Onofrio, 4, Rome 00165, Italy
    Orphanet J Rare Dis 6:71. 2011
    ..Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms...
  92. ncbi Pilot trial of phenylbutyrate in spinal muscular atrophy
    Eugenio Mercuri
    Department of Child Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 14:130-5. 2004
    ..004). Our results indicate that PB might be beneficial to SMA patients without producing any major side effect. Larger prospective randomised, double-blind, placebo controlled trials are needed to confirm these preliminary findings...
  93. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  94. doi Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, Rome, Italy
    Epilepsia 52:1251-7. 2011
    ..To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations...
  95. doi Assessing upper limb function in nonambulant SMA patients: development of a new module
    Elena Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 21:406-12. 2011
    ..75, but the upper limb function did not always strictly follow the overall gross motor function. These findings suggest that even some of the very weak nonambulant children possess upper limb skills that can be measured...
  96. doi Feeding problems and malnutrition in spinal muscular atrophy type II
    Sonia Messina
    Department of Child Neurology, Policlinico Gemelli, Largo Gemelli, Rome, Italy
    Neuromuscul Disord 18:389-93. 2008
    ..Our findings raise a few issues concerning standards of care that should be implemented in the monitoring and management of feeding difficulties and weight gain...
  97. pmc Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    Enza Maria Valente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
    Am J Hum Genet 73:663-70. 2003
    ..The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes...
  98. ncbi Distinguishing the four genetic causes of Jouberts syndrome-related disorders
    Enza Maria Valente
    IRCCS CSS, Mendel Institute, Rome, Italy
    Ann Neurol 57:513-9. 2005
    ..This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications...
  99. doi Current methodological issues in the study of children with inherited neuromuscular disorders
    Eugenio Mercuri
    Department of Child Neurology, Catholic University, Policlinico Gemelli, Rome, Italy
    Dev Med Child Neurol 50:417-21. 2008
    ..The state of the art of outcome measures in neuromuscular disorders will be discussed, and suggestions for future clinical trials are presented...
  100. doi Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease
    Pietro Sirleto
    Cytogenetics and Molecular Genetics, Bambino Gesu Children s Hospital, Roma 00165, Italy
    Pediatr Res 65:347-51. 2009
    ....
  101. ncbi Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesù Hospital and Research Institute, Rome, Italy
    Ann Neurol 59:265-75. 2006
    ..Methods: We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand...