Publications by authors named "Angela Robbiano"

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White matter involvement in a family with a novel PDGFB mutation.
Roberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette

Neurol Genet· June 2016

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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Angela Robbiano

Am J Hum Genet· May 2015

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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Francesco Miceli, Pasquale Striano, Maria Virginia Soldovieri, Antonina Fontana, Rosaria Nardello, Angela Robbiano

Epilepsia· February 2015

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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Nicola Vanni, Floriana Fruscione, Edoardo Ferlazzo, Pasquale Striano, Angela Robbiano

Ann Neurol· August 2014

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De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Caroline Nava, Carine Dalle, Agnès Rastetter, Pasquale Striano, Carolien G F de Kovel, Angela Robbiano

Nat Genet· June 2014

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Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
Laura Canafoglia, Angela Robbiano, Davide Pareyson, Ferruccio Panzica, Lorenzo Nanetti

Neurology· June 2014

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Angela Robbiano

Brain· October 2013

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PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Felicitas Becker, Julian Schubert, Pasquale Striano, Anna-Kaisa Anttonen, Elina Liukkonen, Angela Robbiano

J Neurol· May 2013

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Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro

Epilepsia· March 2013

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet· December 2012

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PRRT2 mutations are the major cause of benign familial infantile seizures.
Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Angela Robbiano

Hum Mutat· October 2012

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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Pasquale Striano, Antonietta Coppola, Roberta Paravidino, Michela Malacarne, Stefania Gimelli, Angela Robbiano

Arch Neurol· March 2012

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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

Epilepsia· February 2012

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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Angela Robbiano, Vladimir Frecer, Jan Miertus, Cristina Zadro, Sheila Ulivi

J Nephrol· January 2011

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Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification.
Pasquale Striano, Angela Robbiano, Federico Zara, Salvatore Striano

Epilepsy Behav· December 2010

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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.
Angela Robbiano, Giorgia Mandrile, Mario De Marchi, Bodo Beck, Anne Baasner

Hum Genet· April 2010

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Emma L Williams, Cecile Acquaviva, Antonio Amoroso, Francoise Chevalier, Marion Coulter-Mackie, Angela Robbiano

Hum Mutat· June 2009

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Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells.
Franca Gerosa, Barbara Baldani-Guerra, Lyudmila A Lyakh, Giovanna Batoni, Semih Esin, Angela Robbiano

J Exp Med· June 2008

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Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.
Tiziana Bachetti, Angela Robbiano, Sara Parodi, Ivana Matera, Elisa Merello

Am J Respir Crit Care Med· September 2006

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