Publications by authors named "Vincenzo Salpietro"

92Publications

Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders.

Front Cell Dev Biol 2020 12;8:590119. Epub 2020 Oct 12.

Medical Genetics Unit, IRCSS Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.3389/fcell.2020.590119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586734PMC
October 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Neurol Genet 2020 Apr 20;6(2):e399. Epub 2020 Feb 20.

Department of Neuromuscular Diseases (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), UCL Queen Square Institute of Neurology; National Hospital for Neurology and Neurosurgery (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), Queen Square, London, UK; Department of Neurology and Neurosurgery (V.C., S.G.), Institute of Emergency Medicine, Chisinau, Republic of Moldova; Department of Neuroscience (M.C.), University of Padua, Italy; Northern Ireland Regional Genetics Service (G.R., P.J.M.), Belfast City Hospital, UK; Department of Neuroscience (A.B.), Interdisciplinary Center (IDC) Herzliya, Israel; Department of Paediatrics & Child Health (S.K., F.J., S.I., F.K., Z.Q.), Aga Khan University, Karachi, Pakistan; Department of Neurology (L.M.), Eastern Piedmont University, Novara, Italy; Department of Neurology (E.S., D.P.) and Department of Neuroradiology (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Clinical Neurology (N.B.), University of Nottingham, UK; Department of Clinical and Movement Neurosciences (B.B., K.P.B., N.W.W.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (B.B.), Heidelberg University Hospital, Germany; Reta Lila Weston Institute (A.L.), UCL Queen Square Institute of Neurology, London, UK; and Medical Genetics and Neurogenetics Unit (B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073457PMC
April 2020

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

BMC Med Genet 2020 03 24;21(1):59. Epub 2020 Mar 24.

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

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http://dx.doi.org/10.1186/s12881-020-00998-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092478PMC
March 2020

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Epileptic Disord 2020 Feb;22(1):111-115

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1684/epd.2020.1138DOI Listing
February 2020

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

J Neurol Sci 2020 Apr 11;411:116669. Epub 2020 Jan 11.

University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.

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http://dx.doi.org/10.1016/j.jns.2020.116669DOI Listing
April 2020

Genetic epilepsies and the K super-family.

Eur J Paediatr Neurol 2020 01 11;24:5-6. Epub 2020 Jan 11.

Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College of London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.01.013DOI Listing
January 2020

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.

J Neurol Sci 2020 03 19;410:116639. Epub 2019 Dec 19.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116639DOI Listing
March 2020

Further supporting evidence for phenotypic and allelic heterogeneity.

Neurol Genet 2019 Dec 15;5(6):e379. Epub 2019 Nov 15.

Department of Neuromuscular Disorders Institute of Neurology (R.M., R.K., V.S., H.H.), University College London, Queen Square; and Medical Genetics Laboratory of Genome (M.B., M.S.), Isfahan, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878944PMC
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

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

Neurol Sci 2020 Apr 6;41(4):851-857. 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
April 2020

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

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

Am J Hum Genet 2019 05 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

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

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

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

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 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

Kleine-Levin syndrome is associated with LMOD3 variants.

J Sleep Res 2019 06 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

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

: 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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