Publications by authors named "Maria Pintaudi"

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Pathogenic Variants in and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Maria Pintaudi

Int J Mol Sci· July 2019

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Analysis of the Phenotypes in the Rett Networked Database.
Elisa Frullanti, Filomena T Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Maria Pintaudi

Int J Genomics· March 2019

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Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.
Maria Pintaudi, Edvige Veneselli, Adriana Voci, Aglaia Vignoli, Dora Castiglione

World J Biol Psychiatry· April 2016

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Antiepileptic drugs in Rett Syndrome.
Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Maria Giuseppina Baglietto, Yussef Hayek

Eur J Paediatr Neurol· July 2015

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Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Elisa Grillo, Laurent Villard, Angus Clarke, Bruria Ben Zeev, Mercedes Pineda, Maria Pintaudi

Hum Mutat· July 2012

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Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Giorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, Olga Calabrese, Beatrice Felloni, Maria Pintaudi

Neuropediatrics· February 2012

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Epilepsy in Rett syndrome: clinical and genetic features.
Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Parodi, Francesca Aiello

Epilepsy Behav· November 2010

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Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder.
Alessandro Giannattasio, Maria Pintaudi, Maria Margherita Mancardi, Francesca Maria Battaglia, Edvige Veneselli

Ital J Pediatr· July 2009

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Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
Maria Pintaudi, Maria Giuseppina Baglietto, Roberto Gaggero, Elena Parodi, Alice Pessagno

Epilepsy Behav· February 2008

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Can fever treat epileptic encephalopathies?
Maria Pintaudi, Monika M Eisermann, Dorothée Ville, Perrine Plouin, Olivier Dulac

Epilepsy Res· October 2007

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A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.
Laura Doria Lamba, Gaia Giribaldi, Emanuela De Negri, Roberta Follo, Elisa De Grandis, Maria Pintaudi

J Child Neurol· June 2007

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
Pasquale Striano, Michela Malacarne, Simona Cavani, Mauro Pierluigi, Rosanna Rinaldi, Maria Pintaudi

Am J Med Genet A· September 2006

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