Genomes and Genes
Affiliation: Muscular and Neurodegenerative Disease Unit
- Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe formRoberta 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...
- POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy
Biochem Biophys Res Commun 363:1033-7. 2007..Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N...
- Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
Ann Neurol 62:121-7. 2007..3-p15.3...
- Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutationRoberta 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...
- POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta 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...
- Anti-N-methyl-D-aspartate-receptor encephalitis in a four-year-old girlRoberta Biancheri
Child Neurology and Psychiatry Unit, G Gaslini Institute and University of Genova, Largo G Gaslini 5, 16147 Genova, Italy
J Pediatr 156:332-4. 2010..Anti-N-methyl-D-aspartate-receptor encephalitis should be included in the differential diagnosis of acute/subacute encephalitis in children...
- Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseR Biancheri
Department of Neuroscience and Rehabilitation, Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genova, Genova, Italy
Neurogenetics 6:195-9. 2005....
- Hypomyelination and congenital cataract: broadening the clinical phenotypeRoberta 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...
- Middle interhemispheric variant of holoprosencephaly: a very mild clinical caseR Biancheri
Neuromuscular Disease Unit, University of Genova, Genova, Italy
Neurology 63:2194-6. 2004
- Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletionRoberta Biancheri
Child Neurology and Psychiatry Unit, G Gaslini Pediatric Institute, Genova, Italy
J Inherit Metab Dis 34:1225-7. 2011....
- Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica 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...
- Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena 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...
- Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico 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...
- Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena 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...
- Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findingsAndrea 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...
- Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibilityGaia 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....
- A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
J Child Neurol 17:233-6. 2002....
- PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patientsStefano 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...
- Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutationsPasquale 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...
- Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatmentStefania 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...
- Hypomyelination and congenital cataract: identification of novel mutations in two unrelated familiesMonica Traverso
Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
Eur J Paediatr Neurol 17:108-11. 2013....
- Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinElisabetta 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...
- Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale 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)...
- Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara 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...
- A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana 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...
- 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...
- Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander diseaseTiziana 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...
- Genetic disorders affecting white matter in the pediatric ageMaja 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...
- Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutationDaniela 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...
- Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic featuresRoberta 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...
- Anti-N-methyl-D-aspartate-receptor encephalitis: cognitive profile in two childrenEnzo Iadisernia
Child Neurology and Psychiatry, IRCCS G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
Eur J Paediatr Neurol 16:79-82. 2012..The extent and specific tasks associated with cognitive dysfunction in anti-NMDAR encephalitis have not been fully investigated...
- Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano 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...
- Imaging in spine and spinal cord malformationsAndrea Rossi
Department of Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genova, Italy
Eur J Radiol 50:177-200. 2004..Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis...
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the MediterraneanNatalia Cannelli
, 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...
- Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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...
- Cerebellar white matter involvement in Salla diseaseRoberta Biancheri
Neuroradiology 46:587-8. 2004
- GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresRoberta Biancheri
J Neurol 253:1234-5. 2006