Publications by authors named "Bruno Bembi"

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Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
Nucleic Acids Res 2014 Jan 22;42(2):1291-302. Epub 2013 Oct 22.
Regional Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy and International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.




Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
Mol Genet Metab 2011 Feb 29;102(2):226-8. Epub 2010 Oct 29.
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
J Inherit Metab Dis 2010 Dec 14;33(6):727-35. Epub 2010 Sep 14.
Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.




Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Mol Genet Metab 2009 Aug 3;97(4):309-11. Epub 2009 May 3.
Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.



Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...
Autophagy 2007 Nov-Dec;3(6):546-52. Epub 2007 Jun 15.
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-1820, USA.




Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
Radiology 2006 Jan 22;238(1):339-45. Epub 2005 Nov 22.
Dept of Radiology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Hum Mutat 2005 Jan;25(1):100
Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, I.R.C.C.S.G. Gaslini, Genova and International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.



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