Angela Robbiano

Angela Robbiano

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Angela Robbiano

Angela Robbiano

Publications by authors named "Angela Robbiano"

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White matter involvement in a family with a novel PDGFB mutation.

Neurol Genet 2016 Jun 5;2(3):e77. Epub 2016 May 5.

Dubowitz Neuromuscular Service (R.B.), UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom; Unit of Neuroradiology (M.S.), Laboratorio di Neurogenetica e Neuroscienze (A.R., M.I., F.Z.), "G. Gaslini" Institute, Genova, Italy; Neurology Unit (M.D.S.), E.O. Galliera Hospital, Genova, Italy; Pediatric Neurology and Muscular Diseases Unit (C.M.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Advanced Biomedical Sciences (M.C., M.D.B.D.C.), Federico II University, Naples, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867655PMC
June 2016

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Epilepsia 2015 Feb 19;56(2):e15-20. Epub 2014 Dec 19.

Unit of Pharmacology, Department of Neuroscience, Reproductive Science and Dentistry, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/epi.12887DOI Listing
February 2015

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000048
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http://dx.doi.org/10.1212/WNL.0000000000000482DOI Listing
June 2014

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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https://academic.oup.com/brain/article/136/10/3140/330027
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http://dx.doi.org/10.1093/brain/awt233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784283PMC
October 2013

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

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

J Nephrol 2010 Nov-Dec;23(6):667-76

Department of Clinical and Biological Sciences, University of Turin, Regione Gonzole, Orbassano, Italy.

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January 2011

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

Hum Genet 2010 Apr;127(4):468

S. Luigi Gonzaga Hospital, Medical Genetics Unit, University of Torino, Orbassano (TO), Italy.

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April 2010

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Hum Mutat 2009 Jun;30(6):910-7

Clinical Biochemistry, University College London (UCL) Hospitals National Health Service (NHS) Trust, London, UK.

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http://dx.doi.org/10.1002/humu.21021DOI Listing
June 2009

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

Am J Respir Crit Care Med 2006 Sep 8;174(6):706-9. Epub 2006 Jun 8.

Laboratory of Molecular Genetics, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1164/rccm.200602-266CRDOI Listing
September 2006