Publications by authors named "Maria G Pittis"

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Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts.
Sofia Avnet, Rosanna Pallotta, Francesca Perut, Nicola Baldini, Maria Gabriela Pittis

Biochim Biophys Acta· July 2011

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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Stefania Zampieri, Emanuele Buratti, Silvia Dominissini, Anna Lisa Montalvo, Maria Gabriela Pittis

Eur J Hum Genet· April 2011

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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Bruno Bembi, Federica Edith Pisa, Marco Confalonieri, Giovanni Ciana, Agata Fiumara, Maria Gabriela Pittis

J Inherit Metab Dis· December 2010

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Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Raül Santamaria, Helen Michelakakis, Marina Moraitou, Evangelia Dimitriou, Silvia Dominissini, María Gabriela Pittis

Hum Mutat· June 2008

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Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand..
Nina Raben, Shoichi Takikita, Maria G Pittis, Bruno Bembi, Suely K N Marie

Autophagy· January 2008

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Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress.
Marta Deganuto, Maria Gabriela Pittis, Alex Pines, Silvia Dominissini, Mark R Kelley

J Cell Physiol· July 2007

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Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
Susanna Lualdi, Maria G Pittis, Stefano Regis, Rossella Parini, Anna E Allegri

J Mol Med (Berl)· August 2006

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Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Silvia Dominissini, Emanuele Buratti, Bruno Bembi, Marco Baralle, Maria Gabriela Pittis

Hum Mutat· January 2006

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Pulmonary involvement in an adult female affected by type B Niemann Pick disease.
Francesco Falco, Bruno Bembi, Alberto Cavazza, Maria Gabriela Pittis, Luigi Zucchi

Sarcoidosis Vasc Diffuse Lung Dis· October 2005

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Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Anna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, Andrea Dardis, Susanna Lualdi, Maria Gabriela Pittis

Hum Mutat· September 2005

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Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Andrea Dardis, Stefania Zampieri, Mirella Filocamo, Alberto Burlina, Bruno Bembi, Maria Gabriela Pittis

Hum Mutat· August 2005

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Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Michele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, Chiara Balducci, Pirkko Heikinheimo

Hum Mutat· March 2005

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Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Silvia Dominissini, Roberta Cariati, Marco Nevyjel, Veronica Guerci, Giovanni Ciana, Maria Gabriela Pittis

Hum Hered· February 2005

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Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, Anna Lisa E Montalvo, Kristian Vlahovicek, Maria Gabriela Pittis

Hum Mutat· January 2005

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Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Anna Lisa E Montalvo, Roberta Cariati, Marta Deganuto, Veronica Guerci, Rodolfo Garcia, Maria Gabriela Pittis

Mol Genet Metab· March 2004

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Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Maria Gabriela Pittis, Anna Lisa E Montalvo, Snjezana Miocic, Cristina Martini, Marta Deganuto

Am J Med Genet A· September 2003

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Mycobacteria-containing phagosomes associate less annexins I, VI, VII and XI, but not II, concomitantly with a diminished phagolysosomal fusion.
Maria G Pittis, Laura Muzzolin, Piero G Giulianini, Rodolfo C Garcia

Eur J Cell Biol· January 2003

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