G
Giovanni Lanzi
Researcher at University of Pavia
Publications - 152
Citations - 5103
Giovanni Lanzi is an academic researcher from University of Pavia. The author has contributed to research in topics: Migraine & Epilepsy. The author has an hindex of 35, co-authored 152 publications receiving 4830 citations. Previous affiliations of Giovanni Lanzi include University of Insubria & University of Bologna.
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Journal ArticleDOI
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J. Crow,Yanick J. Crow,Andrea Leitch,Bruce E. Hayward,Anna Garner,Rekha Parmar,Elen Griffith,Manir Ali,Colin A. Semple,Jean Aicardi,Riyana Babul-Hirji,Clarisse Baumann,Peter Baxter,Enrico Bertini,Kate Chandler,David Chitayat,Daniel Cau,Catherine Dery,Elisa Fazzi,Cyril Goizet,Mary D. King,Joerg Klepper,Didier Lacombe,Giovanni Lanzi,Hermione Lyall,María Luisa Martínez-Frías,Michèle Mathieu,Carole McKeown,Anne Monier,Yvette Oade,Oliver Quarrell,Christopher D. Rittey,R. Curtis Rogers,Amparo Sanchis,John B.P. Stephenson,Uta Tacke,Marianne Till,John Tolmie,Pam Tomlin,Thomas Voit,Bernhard Weschke,C. Geoffrey Woods,Pierre Lebon,David T. Bonthron,Chris P. Ponting,Andrew P. Jackson +45 more
TL;DR: It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.
Journal ArticleDOI
Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q
Judith Melki,Sonia Abdelhak,Peter Sheth,M. F. Bachelot,Peter Burlet,Alun Marcadet,Jean Aicardi,Alun Barois,J. P. Carriere,Michel Fardeau,D. Fontan,G. Ponsot,T. Billette,Corrado Angelini,C. Barbosa,G. Ferriere,Giovanni Lanzi,Alun Ottolini,Marie-Claude Babron,Daniel Cohen,Alun Hanauer,Françoise Clerget-Darpoux,Mark Lathrop,Alun Munnich,Jean Frézal +24 more
TL;DR: A genetic linkage analysis of the chronic forms of spinal muscular atrophies found no evidence for genetic heterogeneity was found for types II and III in this study, suggesting that these two forms are allelic disorders.
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. Rice,Teresa Patrick,Rekha Parmar,Claire F Taylor,Alec Aeby,Jean Aicardi,Rafael Artuch,Simon Attard Montalto,Carlos A. Bacino,Bruno Barroso,Peter Baxter,Willam S Benko,Carsten Bergmann,Enrico Bertini,Roberta Biancheri,Edward Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter Corry,Frances M. Cowan,Helen Cox,Stefano D'Arrigo,John Dean,Corinne De Laet,Claudine De Praeter,Catherine Dery,Colin D. Ferrie,Kim Flintoff,Suzanna G.M. Frints,Angels García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,Sunita Seal,Stavit A. Shalev,C Sierra Corcoles,Gyan P Sinha,Doriette Soler,Ronen Spiegel,John B.P. Stephenson,Uta Tacke,Tiong Yang Tan,Marianne Till,John Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
The ketogenic diet: from molecular mechanisms to clinical effects.
TL;DR: Overall, the data reviewed indicate that considerable advances have been made in understanding the modes of action of the ketogenic diet, its efficacy and tolerability profiles and its potential role in different types of epilepsy.
Journal ArticleDOI
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy
Marco Domenico Bonifati,Giampietro Ruzza,Piero Bonometto,Angela Berardinelli,Kseniya Gorni,Simona Orcesi,Giovanni Lanzi,Corrado Angelini +7 more
TL;DR: Steroid treatment with deflazacort appears to cause fewer side effects than with prednisone, particularly weight gain, which could be important to maximize motor performances.