Alessandra Murgia

Alessandra Murgia

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Alessandra Murgia

Alessandra Murgia

Publications by authors named "Alessandra Murgia"

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42Publications

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Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Eur J Paediatr Neurol 2018 Nov 3;22(6):1042-1053. Epub 2018 Jul 3.

Department of Neurosciences, University Hospital of Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.06.010DOI Listing
November 2018

Rhinencephalon changes in tuberous sclerosis complex.

Neuroradiology 2018 Aug 17;60(8):813-820. Epub 2018 Jun 17.

Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy.

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http://dx.doi.org/10.1007/s00234-018-2045-xDOI Listing
August 2018

Volumetric image-guided conformal radiotherapy for localized prostate cancer: Analysis of dosimetric and clinical factors affecting acute and late toxicity.

Rep Pract Oncol Radiother 2018 Sep-Oct;23(5):315-321. Epub 2018 Aug 13.

Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, Tor Vergata General Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.rpor.2018.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097402PMC
August 2018

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Metab Brain Dis 2018 02 25;33(1):261-269. Epub 2017 Nov 25.

General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/s11011-017-0150-xDOI Listing
February 2018

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Epilepsy Res 2018 01 21;139:51-53. Epub 2017 Nov 21.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy; Department of Biomedical Sciences, University of Padua, Padova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211173044
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http://dx.doi.org/10.1016/j.eplepsyres.2017.11.006DOI Listing
January 2018

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol 2018 Jan 31;104:88-93. Epub 2017 Oct 31.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy; Neuroscience Department, University of Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.10.042DOI Listing
January 2018

Oligometastatic cancer: stereotactic ablative radiotherapy for patients affected by isolated body metastasis.

Acta Oncol 2017 Nov 18;56(11):1621-1625. Epub 2017 Aug 18.

a Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy , Tor Vergata General Hospital , Rome , Italy.

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http://dx.doi.org/10.1080/0284186X.2017.1346383DOI Listing
November 2017

Technical solutions to reduce mediastinal irradiation in young patients undergoing treatment for lymphomas: Preliminary experience.

Med Dosim 2016 Winter;41(4):281-284. Epub 2016 Aug 21.

Radiation Therapy Unit, Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, University of Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1016/j.meddos.2016.06.004DOI Listing
August 2017

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.

Sci Rep 2017 07 28;7(1):6829. Epub 2017 Jul 28.

Molecular Genetics of Neurodevelopmental disorders, Department of Woman and Child Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1038/s41598-017-05748-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533708PMC
July 2017

Volumetric image-guided highly conformal radiotherapy of the prostate bed: Toxicity analysis.

Rep Pract Oncol Radiother 2017 Jan-Feb;22(1):64-70. Epub 2016 Nov 24.

Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, Tor Vergata General Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.rpor.2016.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126144PMC
November 2016

Von Hippel-Lindau disease: an evaluation of natural history and functional disability.

Neuro Oncol 2016 07 12;18(7):1011-20. Epub 2016 Jan 12.

Department of Neurosciences, Neurosurgery Unit, NOCSAE Modena Hospital, Modena, Italy (A.F., G.P.); Department of Medicine-DIMED, Section of Radiology, University of Padova, Italy (M.A.); Department of Statistical Sciences, University of Padova, Italy (B.S.); Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padova, Italy (F.S., F.B., S.Z., E.T., G.O.); Department of Urology, Ospedale Sant'Antonio, Padova, Italy (M.G.); Department of Neurosciences, Otosurgery Unit, University of Padova, Italy (E.Z.); Department of Neurosciences, Ophthalmology Unit, University of Padova, Italy (S.P.); Department of Women's and Children's Health, Pediatric Neurology Unit, University of Padova, Italy (A.M.); Department of Medicine-DIMED, University of Padova, Italy (G.O.).

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http://dx.doi.org/10.1093/neuonc/nov313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896541PMC
July 2016

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

J Hum Genet 2016 Apr 10;61(4):283-93. Epub 2015 Dec 10.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2015.144DOI Listing
April 2016

Dosimetric effect of Elekta Beam modulator micromultileaf in three-dimensional conformal radiotherapy and intensity-modulated radiotherapy for prostate cancer.

Med Dosim 2014 13;39(2):180-4. Epub 2014 Jan 13.

Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, Tor Vergata University General Hospital, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09583947130014
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http://dx.doi.org/10.1016/j.meddos.2013.12.006DOI Listing
January 2015

Acute and late toxicity after three-dimensional conformal image-guided radiotherapy for localized prostate cancer.

Cancer Invest 2014 Dec 27;32(10):526-32. Epub 2014 Oct 27.

Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, Tor Vergata University General Hospital, 00133 Rome, Italy1.

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http://dx.doi.org/10.3109/07357907.2014.970193DOI Listing
December 2014

Identification of four novel PCDH19 Mutations and prediction of their functional impact.

Ann Hum Genet 2014 Nov 17;78(6):389-98. Epub 2014 Sep 17.

Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1111/ahg.12082DOI Listing
November 2014

Distribution of AGG interruption patterns within nine world populations.

Intractable Rare Dis Res 2014 Nov;3(4):153-61

Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA; ; M.I.N.D. Institute, University of California Davis Medical Center, Davis, CA, USA.

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http://dx.doi.org/10.5582/irdr.2014.01028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298645PMC
November 2014

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

J Neurodev Disord 2014 30;6(1):24. Epub 2014 Jul 30.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 2700 Stockton Blvd., Suite 2102, Sacramento, CA 95817, USA ; MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126815PMC
August 2014

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

Brain Dev 2014 May 6;36(5):402-7. Epub 2013 Jul 6.

Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.06.008DOI Listing
May 2014

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Eur J Hum Genet 2013 Mar 8;21(3):266-73. Epub 2012 Aug 8.

Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia.

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http://www.nature.com/articles/ejhg2012156
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http://dx.doi.org/10.1038/ejhg.2012.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573195PMC
March 2013

Genetics and mathematics: FMR1 premutation female carriers.

Neuropsychologia 2012 Dec 1;50(14):3757-63. Epub 2012 Nov 1.

Dipartimento di Neuroscienze, Università di Padova, via Giustiniani 5, Padova 35128, Italy.

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http://dx.doi.org/10.1016/j.neuropsychologia.2012.10.021DOI Listing
December 2012

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Ann Hum Genet 2011 Jul 4;75(4):483-96. Epub 2011 Apr 4.

Department of Pediatrics, University of Padua, Italy Department of Biology, University of Padua, Italy.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00647.xDOI Listing
July 2011

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Ann Hum Genet 2010 Jul;74(4):299-307

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1111/j.1469-1809.2010.00581.xDOI Listing
July 2010

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Epilepsia 2010 Apr 22;51(4):647-54. Epub 2009 Sep 22.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Viale Pieraccini 24, Florence, Italy.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02308.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02308.xDOI Listing
April 2010

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Am J Med Genet A 2009 Feb;149A(2):232-6

Department of Pediatrics, Pediatric Neurology Unit, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32606DOI Listing
February 2009

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

J Child Neurol 2008 Aug 16;23(8):912-5. Epub 2008 May 16.

Pediatric Neurology Unit, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1177/0883073808316367DOI Listing
August 2008

Connexin 26 deafness is not always congenital.

Int J Pediatr Otorhinolaryngol 2007 Mar 11;71(3):501-7. Epub 2007 Jan 11.

Pediatric Audiology Unit, Department of Otolaryngology and Otosurgery, University Hospital of Padova, Via Giustiniani 2, 35128 Padua, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2006.12.002DOI Listing
March 2007

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

J Hum Genet 2006 28;51(11):964-968. Epub 2006 Sep 28.

Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10038-006-0054-9DOI Listing
January 2007

Familial nonsyndromic pheochromocytoma.

Ann N Y Acad Sci 2006 Aug;1073:149-55

Endocrinology Unit, Department of Medical and Surgical Sciences, University Hospital of Padova, Padova, Italy.

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http://dx.doi.org/10.1196/annals.1353.015DOI Listing
August 2006

Connexin 26 35delG does not represent a mutational hotspot.

Hum Genet 2003 Jul 9;113(1):18-23. Epub 2003 Apr 9.

Department of Microbiology and Molecular Genetics, Michigan State University, 5163 Biomedical and Physical Sciences Building, East Lansing, Michigan 48824-4320, USA.

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http://dx.doi.org/10.1007/s00439-003-0944-2DOI Listing
July 2003