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Carlo Nobile

Research Profile

Disorders

Chemicals & Drugs

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Chromosomes, Human, Pair 10

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Yeast Artificial Chromosomes

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Publications

TOP 3
Elena Pasini; Carlo Nobile; Giorgia Busolin; Roberto Michelucci
Autosomal dominant essential tremor: a novel family with anticipation.
Roberto Michelucci; Elena Pasini; Patrizia Riguzzi; Lilia Volpi; Emanuela Dazzo; Carlo Nobile
Genetics of epilepsy and relevance to current practice.
Carlo Di Bonaventura; Erica Diani; Gabriella Egeo; Sandra Furlan; Anna Teresa Giallonardo; Roberto Michelucci; Giorgia Busolin; Giangennaro Coppola; Alfredo D'Aniello; Francesca Felicia Operto; Gessica Smaniotto; Libero Vitello; Carlo Nobile
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.

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All Publications

2013: Elena Pasini; Carlo Nobile; Giorgia Busolin; Roberto Michelucci
Autosomal dominant essential tremor: a novel family with anticipation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2013;34(5):761-3.
2012: Roberto Michelucci; Elena Pasini; Patrizia Riguzzi; Lilia Volpi; Emanuela Dazzo; Carlo Nobile
Genetics of epilepsy and relevance to current practice.
Current neurology and neuroscience reports 2012;12(4):445-55.
2011: Carlo Di Bonaventura; Erica Diani; Gabriella Egeo; Sandra Furlan; Anna Teresa Giallonardo; Roberto Michelucci; Giorgia Busolin; Giangennaro Coppola; Alfredo D'Aniello; Francesca Felicia Operto; Gessica Smaniotto; Libero Vitello; Carlo Nobile
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.
Epilepsia 2011;52(7):1258-64.
2011: Pasquale Striano; G Busolin; L Santulli; E Leonardi; A Coppola; libero vitiello; L Rigon; Roberto Michelucci; S C E Tosatto; S Striano; Carlo Nobile
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.
Neurology 2011;76(13):1173-6.
2011: Giorgia Busolin; Sandro Malacrida; Francesca Bisulli; Pasquale Striano; Carlo Di Bonaventura; Gabriella Egeo; Elena Pasini; Vittoria Cianci; Edoardo Ferlazzo; Amedeo Bianchi; Giangennaro Coppola; Maurizio Elia; Oriano Mecarelli; Giuseppe Gobbi; Susanna Casellato; Marco Marchini; Simona Binelli; Elena Freri; Tiziana Granata; Annio Posar; Antonia Parmeggiani; Piernanda Vigliano; Clementina Boniver; Umberto Aguglia; Salvatore Striano; Paolo Tinuper; Anna Teresa Giallonardo; Roberto Michelucci; Carlo Nobile
Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.
Epilepsy research 2011;94(1-2):110-6.
2011: Laura Rigon; Lia Santulli; Pasquale Striano; Salvatore Striano; Andrea Vettori; Valeria Vianello Dri; Elena Pasini; Patrizia Pulitano; Paola Banfi; Simona Binelli; Clementina Boniver; Giorgia Busolin; Fabrizio de Falco; Carlo Di Bonaventura; Gabriella Egeo; Antonio Gambardella; Anna Teresa Giallonardo; Angela La Neve; Oriano Mecarelli; Roberto Michelucci; Carlo Nobile
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy.
Epilepsy research and treatment 2011;2011():258365.
2011: Rosa Guerrero; Roberto Michelucci; Carlo Nobile; Patrizia Riguzzi; Pascual Sanz; Raúl Sanz; José M Serratosa; Carlo Alberto Tassinari; Santiago Vernia; Irene Abreu-Rodríguez; Carmen Almaraz; María García-Hoyos; Pilar Gómez-Garre
A PTG variant contributes to a milder phenotype in Lafora disease.
PloS one 2011;6(6):e21294.
2011: Emanuela Leonardi; Simonetta Andreazza; Stefano Vanin; Giorgia Busolin; Carlo Nobile; Silvio C E Tosatto
A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.
PloS one 2011;6(3):e18142.
2010: Pasquale Striano; Carlo Nobile
Idiopathic mesial temporal lobe epilepsy: don't sow the tares with the wheat!
Epilepsy & behavior : E&B 2010;18(4):500-1.
2009: Carlo Di Bonaventura; Marco Carni; Erica Diani; Jinane Fattouch; Elisabetta A Vaudano; Gabriella Egeo; Patrizia Pantano; Bruno Maraviglia; Luigi Bozzao; Mario Manfredi; Massimiliano Prencipe; Teresa A Giallonardo; Carlo Nobile
Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings.
Epilepsia 2009;50(11):2481-6.
2009: Carlo Nobile; Roberto Michelucci; Simonetta Andreazza; Elena Pasini; Silvio C E Tosatto; Pasquale Striano
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
Human mutation 2009;30(4):530-6.
2008: Pasquale Striano; Arturo de Falco; Erica Diani; Giorgia Bovo; Sandra Furlan; libero vitiello; Federica Pinardi; Salvatore Striano; Roberto Michelucci; Fabrizio Antonio de Falco; Carlo Nobile
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.
Archives of neurology 2008;65(7):939-42.
2008: Roberto Michelucci; Eva Scudellaro; Stefania Testoni; Daniela Passarelli; Patrizia Riguzzi; Erica Diani; Giovanni Vazza; Valeria Vianello; Aldo Scabar; Maria L Mostacciuolo; Lilia Volpi; Guido Rubboli; Federica Pinardi; Maria Margherita Mancardi; Carlo Alberto Tassinari; Carlo Nobile
Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.
Epilepsy research 2008;80(1):9-17.
2008: Erica Diani; Carlo Di Bonaventura; Oriano Mecarelli; Antonio Gambardella; Maurizio Elia; Giorgia Bovo; Francesca Bisulli; Federica Pinardi; Simona Binelli; Gabriella Egeo; Barbara Castellotti; Pasquale Striano; Salvatore Striano; Amedeo Bianchi; Edoardo Ferlazzo; Valeria Vianello; Giangennaro Coppola; Umberto Aguglia; Paolo Tinuper; Anna Teresa Giallonardo; Roberto Michelucci; Carlo Nobile
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.
Epilepsy research 2008;80(1):1-8.
2008: Giorgia Bovo; Erica Diani; Francesca Bisulli; Carlo Di Bonaventura; Pasquale Striano; Antonio Gambardella; Edoardo Ferlazzo; Gabriella Egeo; Oriano Mecarelli; Maurizio Elia; Amedeo Bianchi; Stefania Bortoluzzi; Andrea Vettori; Umberto Aguglia; Simona Binelli; Arturo De Falco; Giangennaro Coppola; Giuseppe Gobbi; Vito Sofia; Salvatore Striano; Paolo Tinuper; Anna Teresa Giallonardo; Roberto Michelucci; Carlo Nobile
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.
Neuroscience letters 2008;436(1):23-6.
2007: Carlo Tessa; Roberto Michelucci; Carlo Nobile; Marco Giannelli; Riccardo Della Nave; Stefania Testoni; D Bianucci; Paolo Tinuper; Francesca Bisulli; Vito Sofia; M R De Feo; Anna Teresa Giallonardo; Carlo Alberto Tassinari; Mario Mascalchi
Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1.
Neurology 2007;69(12):1298-300.
2007: Roberto Michelucci; O Mecarelli; G Bovo; Francesca Bisulli; Stefania Testoni; Pasquale Striano; Salvatore Striano; Paolo Tinuper; Carlo Nobile
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.
Neurology 2007;68(24):2150-1.
2006: Sandra Furlan; Federico Roncaroli; Francesca Forner; libero vitiello; Elisa Calabria; Salomé Piquer-Sirerol; Giorgio Valle; Jordi Perez-Tur; Roberto Michelucci; Carlo Nobile
The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain.
Journal of neurochemistry 2006;98(3):985-91.
2006: Nadia Gabellini; V Masola; S Quartesan; B Oselladore; Carlo Nobile; Roberto Michelucci; M Curtarello; Cristina Parolin; Giorgio Palù
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells.
Journal of cellular physiology 2006;207(3):711-21.
2004: Francesca Bisulli; Paolo Tinuper; Eva Scudellaro; Ilaria Naldi; Alessia Bagattin; Patrizia Avoni; Roberto Michelucci; Carlo Nobile
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features.
Annals of neurology 2004;56(3):455-6.
2004: Theologia Sarafidou; Christina Kahl; Isabel Martinez-Garay; Marie Mangelsdorf; Stefan Gesk; Elizabeth Baker; Maria Kokkinaki; Polly Talley; Edna L Maltby; Lisa French; Lana Harder; Bernd Hinzmann; Carlo Nobile; Kathy Richkind; Merran Finnis; Panos Deloukas; Grant R Sutherland; Kerstin Kutsche; Nicholas K Moschonas; Reiner Siebert; Jozef Gécz
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Genomics 2004;84(1):69-81.
2004: Francesca Bisulli; Paolo Tinuper; Patrizia Avoni; Pasquale Striano; Salvatore Striano; Giuseppe d'Orsi; Luca Vignatelli; Alessia Bagattin; E Scudellaro; I Florindo; Carlo Nobile; Carlo Alberto Tassinari; Agostino Baruzzi; Roberto Michelucci
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.
Brain : a journal of neurology 2004;127(Pt 6):1343-52.
2004: Roberto Michelucci; Elena Gardella; Gerrit-Jan de Haan; Francesca Bisulli; Anna Zaniboni; Gaetano Cantalupo; Carlo Alberto Tassinari; Paolo Tinuper; Carlo Nobile; Paolo Nichelli; Dorothée G A Kasteleijn-Nolst Trenité
Telephone-induced seizures: a new type of reflex epilepsy.
Epilepsia 2004;45(3):280-3.
2003: Roberto Michelucci; Juan José Poza; Vito Sofia; Maria Rita de Feo; Simona Binelli; Francesca Bisulli; Evan Scudellaro; Barbara Simionati; Rosanna Zimbello; Giuseppe d'Orsi; Daniela Passarelli; Patrizia Avoni; Giuliano Avanzini; Paolo Tinuper; Roberto Biondi; Giorgio Valle; Victor F Mautner; Ulrich Stephani; Carlo Alberto Tassinari; Nicholas K Moschonas; Reiner Siebert; Adolpho Lopez de Munain; Jordi Perez-Tur; Carlo Nobile
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.
Epilepsia 2003;44(10):1289-97.
2002: Luisa Toffolatti; Barbara Cardazzo; Carlo Nobile; Gian Antonio Danieli; Francesca Gualandi; Francesco Muntoni; Stephen Abbs; Patrizia Zanetti; Corrado Angelini; Alessandra Ferlini; Marina Fanin; Tomaso Patarnello
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.
Genomics 2002;80(5):523-30.
2002: Francesca Bisulli; Paolo Tinuper; Carla Marini; Patrizia Avoni; Gianni Carraro; Carlo Nobile
Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.
Epileptic disorders : international epilepsy journal with videotape 2002;4(3):183-7.
2002: Eike Staub; Jordi Pérez-Tur; Reiner Siebert; Carlo Nobile; Nicholas K Moschonas; Panos Deloukas; Bernd Hinzmann
The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.
Trends in biochemical sciences 2002;27(9):441-4.
2002: Carlo Nobile; Luisa Toffolatti; Francesca Rizzi; Barbara Simionati; Vincenzo Nigro; Barbara Cardazzo; Tomaso Patarnello; Giorgio Valle; Gian Antonio Danieli
Analysis of 22 deletion breakpoints in dystrophin intron 49.
Human genetics 2002;110(5):418-21.
2002: José M Morante-Redolat; Ana Gorostidi-Pagola; Salomé Piquer-Sirerol; Amets Sáenz; Juan José Poza; Juan Galán; Stefan Gesk; Theologia Sarafidou; Victor-F Mautner; Simona Binelli; Eike Staub; Bernd Hinzmann; Lisa French; Jean-F Prud'homme; Daniela Passarelli; Paolo Scannapieco; Carlo Alberto Tassinari; Giuliano Avanzini; José Félix Martí-Massó; Lan Kluwe; Panos Deloukas; Nicholas K Moschonas; Roberto Michelucci; Reiner Siebert; Carlo Nobile; Jordi Pérez-Tur; Adolfo López de Munain
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Human molecular genetics 2002;11(9):1119-28.
2002: Carlo Nobile; Bernd Hinzmann; Paolo Scannapieco; Reiner Siebert; Rosanna Zimbello; Jordi Perez-Tur; Theologia Sarafidou; Nicholas K Moschonas; Lisa French; Panos Deloukas; A Ciccodicola; Stefan Gesk; Juan José Poza; Cristiana Lo Nigro; Marco Seri; Brigitte Schlegelberger; A Rosenthal; Giorgio Valle; Adolpho Lopez de Munain; Carlo Alberto Tassinari; Roberto Michelucci
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.
Gene 2002;282(1-2):87-94.
2000: Roberto Michelucci; Daniela Passarelli; S Pitzalis; G Dal Corso; Carlo Alberto Tassinari; Carlo Nobile
Autosomal dominant partial epilepsy with auditory features: description of a new family.
Epilepsia 2000;41(8):967-70.
1999: Carlo Nobile; S Pitzalis
Expression analysis of 21 transcripts physically anchored within the chromosomal region 10q24.
Genomics 1999;62(1):86-9.
1998: Carlo Nobile; Antonella Manca; Marina Pisano; Andrea Angius; Ian C Gray; Nigel K Spurr
A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(10):835-7.
1997: Carlo Nobile; J Marchi; Vincenzo Nigro; Roland Roberts; Gian Antonio Danieli
Exon-intron organization of the human dystrophin gene.
Genomics 1997;45(2):421-4.
1997: Antonella Manca; EV Volpi; F Laficara; Rosella Muresu; Ian C Gray; Nigel K Spurr; Carlo Nobile
Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.
Genomics 1997;45(2):407-11.
1997: Ian C Gray; J Fallowfield; S Ford; Carlo Nobile; EV Volpi; Nigel K Spurr
An integrated physical and genetic map spanning chromosome band 10q24.
Genomics 1997;43(1):85-8.
1995: Ian C Gray; Carlo Nobile; Rosella Muresu; S Ford; Nigel K Spurr
A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24.
Genomics 1995;28(2):328-32.
1994: Massimo Romani; A Baldini; EV Volpi; Ida Casciano; Carlo Nobile; Rosella Muresu; Marcello Siniscalco
Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1.
Cytogenetics and cell genetics 1994;67(1):37-40.