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Roberta Biancheri

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Regis Stefano; Grossi Serena; Corsolini Fabio; Biancheri Roberta; Filocamo Mirella
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Simonati Alessandro; Tessa Alessandra; Bernardina Bernardo Dalla; Biancheri Roberta; Veneselli Edvige; Tozzi Giulia; Bonsignore Maria; Grosso Salvatore; Piemonte Fiorella; Santorelli Filippo M
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Aiello Chiara; Terracciano Alessandra; Simonati Alessandro; Discepoli Giancarlo; Cannelli Natalia; Claps Dianela; Crow Yanick J; Bianchi Marzia; Kitzmuller Claudia; Longo Daniela; Tavoni Antonietta; Franzoni Emilio; Tessa Alessandra; Veneselli Edwige; Boldrini Renata; Filocamo Mirella; Williams Ruth E; Bertini Enrico S; Biancheri Roberta; Carrozzo Rosalba; Mole Sara E; Santorelli Filippo M
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

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2009: Regis Stefano; Grossi Serena; Corsolini Fabio; Biancheri Roberta; Filocamo Mirella
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Biochimica et biophysica acta 2009;1792(6):548-54.
2009: Simonati Alessandro; Tessa Alessandra; Bernardina Bernardo Dalla; Biancheri Roberta; Veneselli Edvige; Tozzi Giulia; Bonsignore Maria; Grosso Salvatore; Piemonte Fiorella; Santorelli Filippo M
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Pediatric neurology 2009;40(4):271-6.
2009: Aiello Chiara; Terracciano Alessandra; Simonati Alessandro; Discepoli Giancarlo; Cannelli Natalia; Claps Dianela; Crow Yanick J; Bianchi Marzia; Kitzmuller Claudia; Longo Daniela; Tavoni Antonietta; Franzoni Emilio; Tessa Alessandra; Veneselli Edwige; Boldrini Renata; Filocamo Mirella; Williams Ruth E; Bertini Enrico S; Biancheri Roberta; Carrozzo Rosalba; Mole Sara E; Santorelli Filippo M
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Human mutation 2009;30(3):E530-40.
2009: Cannelli Natalia; Garavaglia Barbara; Simonati Alessandro; Aiello Chiara; Barzaghi Chiara; Pezzini Francesco; Cilio Maria Roberta; Biancheri Roberta; Morbin Michela; Dalla Bernardina Bernardo; Granata Tiziana; Tessa Alessandra; Invernizzi Federica; Pessagno Alice; Boldrini Renata; Zibordi Federica; Grazian Luisa; Claps Dianela; Carrozzo Rosalba; Mole Sara E; Nardocci Nardo; Santorelli Filippo M
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Biochemical and biophysical research communications 2009;379(4):892-7.
2009: Biancheri Roberta; Ciccolella Marianna; Rossi Andrea; Tessa Alessandra; Cassandrini Denise; Minetti Carlo; Santorelli Filippo M
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
Neuromuscular disorders : NMD 2009;19(1):62-5.
2008: Grossi Serena; Regis Stefano; Rosano Camillo; Corsolini Fabio; Uziel Graziella; Sessa Maria; Di Rocco Maja; Parenti Giancarlo; Deodato Federica; Leuzzi Vincenzo; Biancheri Roberta; Filocamo Mirella
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Human mutation 2008;29(11):E220-30.
2008: Bachetti Tiziana; Caroli Francesco; Bocca Paola; Prigione Ignazia; Balbi Pietro; Biancheri Roberta; Filocamo Mirella; Mariotti Caterina; Pareyson Davide; Ravazzolo Roberto; Ceccherini Isabella
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
European journal of human genetics : EJHG 2008;16(4):462-70.
2008: Traverso Monica; Gazzerro Elisabetta; Assereto Stefania; Sotgia Federica; Biancheri Roberta; Stringara Silvia; Giberti Laura; Pedemonte Marina; Wang Xiabo; Scapolan Sara; Pasquini Elisabetta; Donati Maria A; Zara Federico; Lisanti Michael P; Bruno Claudio; Minetti Carlo
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Laboratory investigation; a journal of technical methods and pathology 2008;88(3):275-83.
2008: Regis S; Biancheri R; Bertini E; Burlina A; Lualdi S; Bianco M G; Devescovi R; Rossi A; Uziel G; Filocamo M
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
Clinical genetics 2008;73(3):279-87.
2008: Rossi A; Biancheri R; Zara F; Bruno C; Uziel G; van der Knaap M S; Minetti C; Tortori-Donati P
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.
AJNR. American journal of neuroradiology 2008;29(2):301-5.
2007: Biancheri Roberta; Falace Antonio; Tessa Alessandra; Pedemonte Marina; Scapolan Sara; Cassandrini Denise; Aiello Chiara; Rossi Andrea; Broda Paolo; Zara Federico; Santorelli Filippo Maria; Minetti Carlo; Bruno Claudio
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biochemical and biophysical research communications 2007;363(4):1033-7.
2007: Caroli F; Biancheri R; Seri M; Rossi A; Pessagno A; Bugiani M; Corsolini F; Savasta S; Romano S; Antonelli C; Romano A; Pareyson D; Gambero P; Uziel G; Ravazzolo R; Ceccherini I; Filocamo M
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Clinical genetics 2007;72(5):427-33.
2007: Biancheri Roberta; Zara Federico; Bruno Claudio; Rossi Andrea; Bordo Laura; Gazzerro Elisabetta; Sotgia Federica; Pedemonte Marina; Scapolan Sara; Bado Massimo; Uziel Graziella; Bugiani Marianna; Lamba Laura Doria; Costa Valeria; Schenone Angelo; Rozemuller Annemieke J M; Tortori-Donati Paolo; Lisanti Michael P; van der Knaap Marjo S; Minetti Carlo
Phenotypic characterization of hypomyelination and congenital cataract.
Annals of neurology 2007;62(2):121-7.
2007: Striano Pasquale; Mancardi Maria Margherita; Biancheri Roberta; Madia Francesca; Gennaro Elena; Paravidino Roberta; Beccaria Francesca; Capovilla Giuseppe; Dalla Bernardina Bernardo; Darra Francesca; Elia Maurizio; Giordano Lucio; Gobbi Giuseppe; Granata Tiziana; Ragona Francesca; Guerrini Renzo; Marini Carla; Mei Davide; Longaretti Francesca; Romeo Antonino; Siri Laura; Specchio Nicola; Vigevano Federico; Striano Salvatore; Tortora Fabio; Rossi Andrea; Minetti Carlo; Dravet Charlotte; Gaggero Roberto; Zara Federico
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Epilepsia 2007;48(6):1092-6.
2007: Biancheri Roberta; Rossi Andrea; Alpigiani Giannina; Filocamo Mirella; Gandolfo Carlo; Lorini Renata; Minetti Carlo
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(3):175-7.
2007: Striano Pasquale; Specchio Nicola; Biancheri Roberta; Cannelli Natalia; Simonati Alessandro; Cassandrini Denise; Rossi Andrea; Bruno Claudio; Fusco Lucia; Gaggero Roberto; Vigevano Federico; Bertini Enrico; Zara Federico; Santorelli Filippo M; Striano Salvatore
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Epilepsy & behavior : E&B 2007;10(1):187-91.
2006: Madia F; Striano P; Gennaro E; Malacarne M; Paravidino R; Biancheri R; Budetta M; Cilio M R; Gaggero R; Pierluigi M; Minetti C; Zara F
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
Neurology 2006;67(7):1230-5.
2006: Biancheri Roberta; Bertini Enrico; Falace Antonio; Pedemonte Marina; Rossi Andrea; D'Amico Adele; Scapolan Sara; Bergamino Laura; Petrini Stefania; Cassandrini Denise; Broda Paolo; Manfredi Mario; Zara Federico; Santorelli Filippo M; Minetti Carlo; Bruno Claudio
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Archives of neurology 2006;63(10):1491-5.
2006: Zara Federico; Biancheri Roberta; Bruno Claudio; Bordo Laura; Assereto Stefania; Gazzerro Elisabetta; Sotgia Federica; Wang Xiao Bo; Gianotti Stefania; Stringara Silvia; Pedemonte Marina; Uziel Graziella; Rossi Andrea; Schenone Angelo; Tortori-Donati Paolo; van der Knaap Marjo S; Lisanti Michael P; Minetti Carlo
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Nature genetics 2006;38(10):1111-3.
2006: Biancheri Roberta; Zara Federico; Striano Pasquale; Pedemonte Marina; Cassandrini Denise; Stringara Silvia; Manganelli Fiore; Santoro Lucio; Schenone Angelo; Bellone Emilia; Minetti Carlo
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Journal of neurology 2006;253(9):1234-5.
2006: D'Amico A; Tessa A; Bruno C; Petrini S; Biancheri R; Pane M; Pedemonte M; Ricci E; Falace A; Rossi A; Mercuri E; Santorelli F M; Bertini E
Expanding the clinical spectrum of POMT1 phenotype.
Neurology 2006;66(10):1564-7; discussion 1461.
2006: Cannelli Natalia; Cassandrini Denise; Bertini Enrico; Striano Pasquale; Fusco Lucia; Gaggero Roberto; Specchio Nicola; Biancheri Roberta; Vigevano Federico; Bruno Claudio; Simonati Alessandro; Zara Federico; Santorelli Filippo M
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Neurogenetics 2006;7(2):111-7.
2006: Assereto Stefania; Stringara Silvia; Sotgia Federica; Bonuccelli Gloria; Broccolini Aldobrando; Pedemonte Marina; Traverso Monica; Biancheri Roberta; Zara Federico; Bruno Claudio; Lisanti Michael P; Minetti Carlo
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
American journal of physiology. Cell physiology 2006;290(2):C577-82.
2005: Biancheri R; Rossi A; Verbeek H A; Schot R; Corsolini F; Assereto S; Mancini G M S; Verheijen F W; Minetti C; Filocamo M
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Neurogenetics 2005;6(4):195-9.
2005: Di Rocco M; Rossi A; Parenti G; Allegri A E M; Filocamo M; Pessagno A; Tortori-Donati P; Minetti C; Biancheri R
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.
Neuropediatrics 2005;36(4):265-9.
2005: Regis Stefano; Grossi Serena; Lualdi Susanna; Biancheri Roberta; Filocamo Mirella
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.
Neurogenetics 2005;6(2):73-8.
2004: Biancheri R; Rossi A; Tortori-Donati P; Stringara S; Bonifacino S; Minetti C
Middle interhemispheric variant of holoprosencephaly: a very mild clinical case.
Neurology 2004;63(11):2194-6.
2004: Di Rocco M; Biancheri R; Rossi A; Allegri A E M; Vecchi V; Tortori-Donati P
MRI in acute intermittent maple syrup urine disease.
Neurology 2004;63(6):1078.
2004: Di Rocco Maja; Biancheri Roberta; Rossi Andrea; Filocamo Mirella; Tortori-Donati Paolo
Genetic disorders affecting white matter in the pediatric age.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):85-93.
2004: Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Human mutation 2004;24(1):105.
2004: Biancheri Roberta; Rossi A; Mancini M G; Minetti C
Cerebellar white matter involvement in Salla disease.
Neuroradiology 2004;46(7):587-8.
2004: Rossi Andrea; Catala Martin; Biancheri Roberta; Di Comite Raffaella; Tortori-Donati Paolo
MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.
AJNR. American journal of neuroradiology 2004;25(6):1046-8.
2004: Rossi Andrea; Biancheri Roberta; Cama Armando; Piatelli Gianluca; Ravegnani Marcello; Tortori-Donati Paolo
Imaging in spine and spinal cord malformations.
European journal of radiology 2004;50(2):177-200.
2004: Rossi A; Cama A; Piatelli G; Ravegnani M; Biancheri R; Tortori-Donati P
Spinal dysraphism: MR imaging rationale.
Journal of neuroradiology. Journal de neuroradiologie 2004;31(1):3-24.
2003: Biancheri R; Rossi A; Di Rocco M; Filocamo M; Pronk J C; van der Knaap M S; Tortori-Donati P
Leukoencephalopathy with vanishing white matter:: an adult onset case.
Neurology 2003;61(12):1818-9.
2003: Rossi Andrea; Biancheri Roberta; Bruno Claudio; Di Rocco Maja; Calvi Angela; Pessagno Alice; Tortori-Donati Paolo
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
AJNR. American journal of neuroradiology 2003;24(6):1188-91.
2002: Biancheri R; Verbeek E; Rossi A; Gaggero R; Roccatagliata L; Gatti R; van Diggelen Op; Verheijen F W; Mancini G M S
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
Clinical genetics 2002;61(6):443-7.
2002: Biancheri Roberta; Cerone Roberto; Rossi Andrea; Schiaffino Maria Cristina; Caruso Ubaldo; Minniti Giuseppe; Perrone Maria Viviana; Tortori-Donati Paolo; Veneselli Edvige
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
Epilepsia 2002;43(6):616-22.
2002: Bruno Claudio; Biancheri Roberta; Garavaglia Barbara; Biedi Claudia; Rossi Andrea; Lamba Laura Doria; Bado Massimo; Greco Marilena; Zeviani Massimo; Minetti Carlo
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Journal of child neurology 2002;17(3):233-6.
2001: Rossi A; Biancheri R; Tortori-Donati P
The pathogenesis of hydrocephalus in inborn errors of the single carbon transfer pathway.
Neuropediatrics 2001;32(6):335-6.
2001: Tortori-Donati P; Rossi A; Biancheri R; Cama A
Magnetic resonance imaging of spinal dysraphism.
Topics in magnetic resonance imaging : TMRI 2001;12(6):375-409.
2001: Rossi A; Bava G L; Biancheri R; Tortori-Donati P
Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome.
Neuroradiology 2001;43(11):934-40.
2001: Veneselli E; Biancheri R; Buoni S; Fois A
Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis.
Brain & development 2001;23(5):306-11.
2001: Veneselli E; Perrone M V; Di Rocco M; Gaggero R; Biancheri R
Malignant migrating partial seizures in infancy.
Epilepsy research 2001;46(1):27-32.
2001: Manni R; Politini L; Nobili L; Ferrillo F; Livieri C; Veneselli E; Biancheri R; Martinetti M; Tartara A
Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2001;112(5):800-5.
2001: Rossi A; Cerone R; Biancheri R; Gatti R; Schiaffino M C; Fonda C; Zammarchi E; Tortori-Donati P
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
AJNR. American journal of neuroradiology 2001;22(3):554-63.
2001: Biancheri R; Cerone R; Schiaffino M C; Caruso U; Veneselli E; Perrone M V; Rossi A; Gatti R
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.
Neuropediatrics 2001;32(1):14-22.
2000: Biancheri R; Pisaturo C; Perrone M V; Pessagno A; Rossi A; Veneselli E
Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts.
Neuropediatrics 2000;31(6):321-4.
2000: Veneselli E; Biancheri R; Perrone M V; Buoni S; Fois A
Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(3 Suppl):S75-81.
1999: Pisaturo C; Biancheri R; Perrone M V; Rossi A; Veneselli E
[Leukoencephalopathy with swelling, megalencephalopathy and surprisingly mild course. A case report]
Minerva pediatrica 1999;51(11-12):399-402.
1999: Veneselli E; Biancheri R; Di Rocco M; Fondelli M P; Perrone M V; Donati P T
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1999;15(5):274-7.
1998: Veneselli E; Conte M; Biancheri R; Acquaviva A; De Bernardi B
Effect of steroid and high-dose immunoglobulin therapy on opsoclonus-myoclonus syndrome occurring in neuroblastoma.
Medical and pediatric oncology 1998;30(1):15-7.
1998: Veneselli E; Biancheri R; Di Rocco M; Tortorelli S
Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(5):239-44.
1997: Veneselli E; Biancheri R
Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine.
European journal of pediatrics 1997;156(2):157-8.

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Roberta Biancheri

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