Vincenzo Salpietro

Vincenzo Salpietro

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Vincenzo Salpietro

Vincenzo Salpietro

Publications by authors named "Vincenzo Salpietro"

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Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.

Neurol Sci 2019 Dec 6. Epub 2019 Dec 6.

Neurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s10072-019-04113-wDOI Listing
December 2019

A truncating mutation in associated with segmental overgrowth.

J Genet 2019 Dec;98

Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.

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December 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Kleine-Levin syndrome is associated with LMOD3 variants.

J Sleep Res 2019 Jun 19;28(3):e12718. Epub 2018 Jun 19.

Department of Physiology, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/jsr.12718DOI Listing
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

J Neurogenet 2018 12 10;32(4):316-321. Epub 2018 Jul 10.

a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.

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http://dx.doi.org/10.1080/01677063.2018.1476510DOI Listing
December 2018

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Mov Disord 2018 12 21;33(12):1961-1965. Epub 2018 Oct 21.

Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1002/mds.27523DOI Listing
December 2018

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.

Epileptic Disord 2018 Oct;20(5):423-427

Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", Unit of Child Neurology and Psychiatry, University of Messina.

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http://dx.doi.org/10.1684/epd.2018.0992DOI Listing
October 2018

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in .

J Pediatr Genet 2018 Sep 14;7(3):114-116. Epub 2018 Jun 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0038-1651526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087480PMC
September 2018

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.

Cell Rep 2018 01;22(3):820-831

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Clinical and Experimental Epilepsy, University College London, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.12.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792450PMC
January 2018

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.

Cytogenet Genome Res 2017 7;152(3):111-116. Epub 2017 Sep 7.

Department of Pediatrics, Fondazione Policlinico San Matteo IRCCS, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1159/000478922DOI Listing
October 2017

Mixed vascular nevus syndrome: a report of four new cases and a literature review.

Quant Imaging Med Surg 2016 Oct;6(5):515-524

Department of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.

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http://dx.doi.org/10.21037/qims.2016.10.09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130559PMC
October 2016

: a literature review and report of five new cases.

Quant Imaging Med Surg 2016 Oct;6(5):525-534

Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.

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http://dx.doi.org/10.21037/qims.2016.10.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130568PMC
October 2016

PKD or Not PKD: That is the question.

Ann Neurol 2016 07 11;80(1):167-8. Epub 2016 May 11.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.24668DOI Listing
July 2016

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Eur J Paediatr Neurol 2016 May 11;20(3):483-8. Epub 2016 Jan 11.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, 369 Fulham Road, London, SW10 9NH, United Kingdom; The Portland Hospital for Women and Children, 205-209 Great Portland St, London, W1W 5AH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.016DOI Listing
May 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.

Brain Imaging Behav 2016 Mar;10(1):158-67

Neuroradiology Unit - Department of Biomedical Sciences and Morpho-Functional Imaging, University of Messina, via Consolare Valeria, 1 A.O.U. Policlinico "G. Martino", 98125, Messina, Italy.

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http://dx.doi.org/10.1007/s11682-015-9377-5DOI Listing
March 2016

Proteus syndrome: evaluation of the immunological profile.

Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy.

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http://dx.doi.org/10.1186/s13023-015-0381-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711050PMC
January 2016

Pseudotumor cerebri pathophysiology: the likely role of aldosterone.

Headache 2014 Jul-Aug;54(7):1229

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK; Department of Paediatrics, University of Messina, Messina, Italy.

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http://dx.doi.org/10.1111/head.12381DOI Listing
June 2015

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Quant Imaging Med Surg 2015 Jun;5(3):476-9

1 Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK ; 2 BUPA Cromwell Hospital, London, UK ; 3 St Mary's Hospital, Imperial College NHS trust, London, UK ; 4 St George's Hospital, NHS Foundation Trust, London, UK ; 5 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 6 King's College Hospital, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2014.11.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426115PMC
June 2015

Stickler syndrome associated with epilepsy: report of three cases.

Eur J Pediatr 2015 May 27;174(5):697-701. Epub 2015 Mar 27.

Department of Pediatrics, IRCSS Policlinico "San Matteo", University of Pavia, Pavia, Italy,

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http://link.springer.com/content/pdf/10.1007%2Fs00431-015-25
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http://link.springer.com/10.1007/s00431-015-2514-8
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http://dx.doi.org/10.1007/s00431-015-2514-8DOI Listing
May 2015

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.

J Child Neurol 2015 Apr 30;30(5):654-8. Epub 2014 Apr 30.

Department of Paediatric Neurology, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1177/0883073814532546DOI Listing
April 2015

Zellweger syndrome and secondary mitochondrial myopathy.

Eur J Pediatr 2015 Apr 7;174(4):557-63. Epub 2014 Oct 7.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK,

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http://dx.doi.org/10.1007/s00431-014-2431-2DOI Listing
April 2015

Sudden cardiac arrest in a child with nemaline myopathy.

Ital J Pediatr 2015 Mar 21;41:20. Epub 2015 Mar 21.

Neonatal and Pediatric Intensive Care Unit, Department of Pediatrics, University of Messina, Italy, Via Consolare Valeria 1, 98125, Messina, Italy.

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http://dx.doi.org/10.1186/s13052-015-0124-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374407PMC
March 2015

High-mobility group box 1 (HMGB1) in childhood: from bench to bedside.

Eur J Pediatr 2014 Sep 9;173(9):1123-36. Epub 2014 May 9.

Department of Pediatric Sciences, University of Messina, 98100, Messina, Italy,

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http://link.springer.com/10.1007/s00431-014-2327-1
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http://dx.doi.org/10.1007/s00431-014-2327-1DOI Listing
September 2014

Subangular mandibular abscess as presentation of Kawasaki Disease.

Indian J Pediatr 2014 Apr 14;81(4):418-9. Epub 2014 Mar 14.

UOC of Genetics and Pediatric Immunology, Messina, Italy,

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http://dx.doi.org/10.1007/s12098-014-1396-5DOI Listing
April 2014

Evaluation of the basal ganglia in neurofibromatosis type 1.

Childs Nerv Syst 2014 Feb 27;30(2):319-25. Epub 2013 Jul 27.

Department of Pediatrics, Child Neurology Division, Policlinico Umberto I, "Sapienza", University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/s00381-013-2236-zDOI Listing
February 2014

Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism.

Am J Med Sci 2013 Sep;346(3):194-8

Division of Cardiovascular Diseases, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029629153054
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http://dx.doi.org/10.1097/MAJ.0b013e31826e3635DOI Listing
September 2013

High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children.

Eur J Endocrinol 2013 Apr 15;168(4):631-8. Epub 2013 Mar 15.

Department of Pediatric Sciences, University of Messina, 98100 Messina, Italy.

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http://dx.doi.org/10.1530/EJE-13-0037DOI Listing
April 2013