Liana Veneziano - Dissemin

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Papers authored by Liana Veneziano

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2014 Liana Veneziano

ORCID

, Michael H. Parkinson, Elide Mantuano, Marina Frontali, Kailash P. Bhatia, Paola Giunti

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

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Liana Veneziano

ORCID

, Elide Mantuano, Claudio Catalli, Cinzia Gellera

ORCID

, Alexandra Durr, Silvia Romano, Maria Spadaro, Marina Frontali, Andrea Novelletto

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

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2011 Liana Veneziano

ORCID

, Serena Albertosi, Daniela Pesci, Elide Mantuano, Marina Frontali, Carla Jodice

Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.

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2010 Elide Mantuano, Silvia Romano, Liana Veneziano

ORCID

, Cinzia Gellera

ORCID

, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani, Yusuf A. Rajabally, Maria J. Garcìa Barcina, Maria J. Garcìa Barcina, Serena Servidei, Aurora Panico and 2 other authors

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

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Daniela Di Bella, Federico Lazzaro, Alfredo Brusco

ORCID

, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali, Liana Veneziano

ORCID

, Tiziana Sacco, Enrica Boda, Alessandro Brussino, Florian Bonn and 11 other authors

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

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2009 Ilenia Pietrangeli, Vincenzo Caruso, Liana Veneziano

ORCID

, Aldo Spinella, Giovanni Arcudi, Emiliano Giardina, Giuseppe Novelli

ORCID

Forensic DNA Challenges: Replacing Numbers with Names of Fosse Ardeatine’s Victims

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2008 Liana Veneziano

ORCID

, Serena Guida, Elide Mantuano, Paola Bernard, Patrizia Tarantino, Loredana Boccone, Fuki M. Hisama, Paola Carrera, Carla Jodice, Marina Frontali

Newly characterised 5 ' and 3 ' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

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Claudia Provenzano, Liana Veneziano

ORCID

, Richard Appleton, Marina Frontali, Donato Civitareale

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

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2007 F. Cricchi, C. Di Lorenzo

ORCID

, G. S. Grieco, C. Rengo, A. Cardinale, Elide Mantuano, Liana Veneziano

ORCID

, M. Racaniello, F. M. Santorelli, G. Nappi, F. Pierelli, C. Casali

Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop

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2004 Maria Spadaro, Simona Ursu, Liana Veneziano

ORCID

, Frank Lehmann-Horn, Giovanni Antonini, Paola Giunti, Marina Frontali, Karin Jurkat-Rott

A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

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L. Veneziano

ORCID

, M. Spadaro, M. Spadaio, L. Verriello, N. Wood

ORCID

, L. Verricello, P. Giunti, S. Guida, M. G. Leggio, C. Jodice, E. Mantuano, M. Frontali

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

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2003 E. Mantuano, L. Veneziano

ORCID

, C. Jodice, M. Frontali

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

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2001 P. Malaspina, M. Tsopanomichalou, T. Duman, M. Stefan, A. Silvestri, B. Rinaldi, O. Garcia, A. I. Kozlov, M. Giparaki, E. Plata, F. Papola, Kozlov Ai, G. Ciavarella, D. Kovatchev, G. Barbujani and 10 other authors

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

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Serena Guida, Flavia Trettel, Stefano Pagnutti, Elide Mantuano, Angelita Tottene, Liana Veneziano

ORCID

, Tommaso Fellin, Stauderman Ka, Maria Spadaro, Kenneth A. Stauderman, Mark E. Williams, Williams Me, Stephen Volsen, Roel A. Ophoff, Ophoff Ra and 5 other authors

Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

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2000 Flavia Trettel, Elide Mantuano, Valentina Calabresi, Liana Veneziano

ORCID

, Anne S. Olsen, Anca Georgescu, Laurie Gordon, Guglielmo Sabbadini, Marina Frontali, Carla Jodice

A fine physical map of the CACNA1A gene region on 19p13.1–p13.2 chromosome

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1998 G. Sabbadini, M. G. Sweeney, L. Veneziano

ORCID

, E. Mantuano, R. Plasmati, N. W. Wood

ORCID

, M. B. Davis, A. Federico, P. Giunti, M. Frontali

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

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1997 L. Veneziano

ORCID

, Ada Francia, G. Sabbadini, Claudio Colonnese, E. Mantuano, C. Jodice, Flavia Trettel, P. Viviani, Mario Manfredi, M. Frontali, L. Calandriello

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13

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C. Jodice, E. Mantuano, L. Veneziano

ORCID

, Flavia Trettel, G. Sabbadini, L. Calandriello, Ada Francia, Maria Spadaro, Francesco Pierelli, F. Salvi, R. A. Ophoff, R. R. Frants, M. Frontali

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

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1996 M. Frontali, G. Sabbadini, A. Novelletto, C. Jodice, F. Naso, M. Spadaro, P. Giunti, A. G. Jacopini, L. Veneziano

ORCID

, E. Mantuano, P. Malasppna, L. Ulizzi, A. Brice, A. Durr, L. Terrenato

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

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Flavia Trettel, P. Malaspina, P. Blasi, C. Jodice, A. Novelletto, G. Sabbadini, L. Veneziano

ORCID

, M. Frontali, L. Terrenato

Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band

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