Roberta Biancheri

Summary

Country: Italy

Publications

  1. ncbi request reprint Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
    R Biancheri
    III Division of Paediatrics, G Gaslini Institute, Genova, Italy
    Neuropediatrics 32:14-22. 2001
  2. ncbi request reprint Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts
    R Biancheri
    Department of Neuroscience, G Gaslini Institute, University of Genoa, Italy
    Neuropediatrics 31:321-4. 2000
  3. ncbi request reprint Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features
    Roberta Biancheri
    III Division of Paediatrics, G Gaslini Institute, Genova, Italy
    Epilepsia 43:616-22. 2002
  4. ncbi request reprint An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
    R Biancheri
    III Department of Paediatrics, G Gaslini Institute, University of Genova, Genova, Italy
    Clin Genet 61:443-7. 2002
  5. ncbi request reprint Leukoencephalopathy with vanishing white matter:: an adult onset case
    R Biancheri
    Department of Pediatric Neuroradiology, Istituto G Gaslini, Genoa, Italy
    Neurology 61:1818-9. 2003
  6. 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
  7. 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
  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. 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
  10. 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

Detail Information

Publications39

  1. ncbi request reprint Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
    R Biancheri
    III Division of Paediatrics, G Gaslini Institute, Genova, Italy
    Neuropediatrics 32:14-22. 2001
    ....
  2. ncbi request reprint Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts
    R Biancheri
    Department of Neuroscience, G Gaslini Institute, University of Genoa, Italy
    Neuropediatrics 31:321-4. 2000
    ....
  3. ncbi request reprint Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features
    Roberta Biancheri
    III Division of Paediatrics, G Gaslini Institute, Genova, Italy
    Epilepsia 43:616-22. 2002
    ..To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine...
  4. ncbi request reprint An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
    R Biancheri
    III Department of Paediatrics, G Gaslini Institute, University of Genova, Genova, Italy
    Clin Genet 61:443-7. 2002
    ..Conversely, mutations found in ISSD can be expected, even in patients showing the Salla phenotype (e.g. symptoms at the milder end of the spectrum)...
  5. ncbi request reprint Leukoencephalopathy with vanishing white matter:: an adult onset case
    R Biancheri
    Department of Pediatric Neuroradiology, Istituto G Gaslini, Genoa, Italy
    Neurology 61:1818-9. 2003
  6. 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...
  7. 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...
  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. 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...
  10. 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...
  11. doi request reprint Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
    Serena Grossi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Genova, Italy
    Hum Mutat 29:E220-30. 2008
    ..It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations...
  12. 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...
  13. doi request reprint PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients
    Stefano Regis
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Biochim Biophys Acta 1792:548-54. 2009
    ..Therefore, PLP1 gene duplication seems to result both in overexpression and in a shift of the PLP/DM20 splicing balance in direction of the PLP isoform...
  14. 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...
  15. 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...
  16. doi request reprint Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility
    Gaia Giribaldi
    Department of Neuroscience, Ophthalmology and Genetics, Child Neuropsychiatry Unit, G Gaslini Institute, and University of Genoa, Genoa, Italy
    Dev Med Child Neurol 54:472-6. 2012
    ....
  17. 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...
  18. pmc Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
    Roberta Biancheri
    Child Neurology and Psychiatry Unit, Istituto G Gaslini, Genova, Italy
    Eur J Hum Genet 21:34-9. 2013
    ..Glu260Lys mutant allele on Cx47 protein...
  19. 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...
  20. doi request reprint Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia
    Marisol Mirabelli-Badenier
    Units of Child Neuropsychiatry, Giannina Gaslini Institute, Genoa, Italy
    Arch Neurol 69:1064-6. 2012
    ..To expand the spectrum of the clinical presentation of anti-glutamic acid decarboxylase antibodies-related limbic encephalitis and to improve the recognition of this entity...
  21. 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
    ....
  22. doi request reprint A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities
    Tiziana Bachetti
    Istituto G Gaslini, Genova, Italy
    Ann Hum Genet 74:506-15. 2010
    ..Therefore, these SNP alleles may, among others, mediate the effects of GFAP mutations, thus explaining the phenotypic heterogeneity of Alexander disease...
  23. pmc Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    Barbara Tappino
    S S D Lab Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Genova, Italy
    Hum Mutat 31:E1894-914. 2010
    ..This is due in part to a GALC missense substitution (p.G553R) that occurs at high frequency on a common founder haplotype background in patients originating from the Naples region...
  24. doi request reprint Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood
    Elisa De Grandis
    Child Neuropsychiatry Unit, Department of Neurosciences, Ophthalmology and Genetics, G Gaslini Institute, University of Genoa, Genoa, Italy
    J Child Neurol 28:863-6. 2013
    ..Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet...
  25. doi request reprint Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?
    Laura Bergamino
    Dipartimento di Scienze Pediatriche, Universita di Genova, IRCCS G Gaslini, Genova, Italy
    Brain Dev 34:384-91. 2012
    ..Further studies will be necessary to define the clinical, immunological and genetic aspects, as well as the outcome of immunomodulatory therapy in patients with ANE1...
  26. doi request reprint Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease
    Tiziana Bachetti
    Laboratory of Molecular Genetics, G Gaslini Institute, Genoa, Italy
    Eur J Hum Genet 16:462-70. 2008
    ..R239C mutant only a partial rescue effect could be achieved...
  27. ncbi request reprint Genetic disorders affecting white matter in the pediatric age
    Maja Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genova, Italy
    Am J Med Genet B Neuropsychiatr Genet 129:85-93. 2004
    ..A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided...
  28. 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...
  29. 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)...
  30. 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...
  31. 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...
  32. doi request reprint Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation
    Daniela Rossi
    Child Neurology and Psychiatry Unit, G Gaslini Institute, Genova, Italy
    Brain Dev 34:536-8. 2012
    ..Brain magnetic resonance imaging (MRI) typically shows the "eye-of-the-tiger" sign, i.e. bilateral pallidal T2 hypointensity with a small central region of T2-hyperintensity...
  33. ncbi request reprint MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 25:1046-8. 2004
    ..These MR imaging features suggest the diagnosis of HGPPS and correlate with the clinical findings. We hypothesize that maldevelopment of dorsomedial brain-stem structures plays a crucial role in the pathogenesis of HGPPS...
  34. ncbi request reprint Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
    Stefano Regis
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Neurogenetics 6:73-8. 2005
    ..The method is suitable for the identification of affected male patients and female carriers. Specific ranges are widely spaced, ensuring a correct assignment of the PLP1 gene copy number...
  35. 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
    ....
  36. ncbi request reprint Cerebellar white matter involvement in Salla disease
    Roberta Biancheri
    Neuroradiology 46:587-8. 2004
  37. 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...
  38. ncbi request reprint GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
    Roberta Biancheri
    J Neurol 253:1234-5. 2006
  39. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...