Publications by authors named "Valeria Capra"

100Publications

Basal ganglia dysmorphism in patients with Aicardi syndrome.

Neurology 2020 Dec 4. Epub 2020 Dec 4.

From the Department of Brain and Behavioural Neurosciences (S.M., A.P., M. Formica, S.O.) and Department of Public Health Experimental and Forensic Medicine, Biostatistic and Clinical Epidemiology Unit (P. Borrelli), University of Pavia; Pediatric Neurology Unit (S.M., M. Mastrangelo, P.V.), V. Buzzi Children's Hospital, Milan; Department of Neuroradiology (A.P.), Child Neurology and Psychiatry Unit (R.B., V.D.G., S.O.), and Department of Internal Medicine and Therapeutics, Member of the ERN EpiCARE, University of Pavia and Clinical Trial Center (E.P.), IRCCS Mondino Foundation Pavia; Neuroimaging Lab (F.A.) and Neuropsychiatry and Neurorehabilitation Unit (R.R.), Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco; Child Neuropsychiatric Unit (P.A., L.G.), Civilian Hospital, Brescia; Scientific Institute (P. Bonanni, A.D., E.O.), IRCCS E. Medea, Epilepsy and Clinical Neurophysiology Unit, Conegliano, Treviso; UOC Child Neuropsychiatry (B.D.B., F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Département de Neurologie Pédiatrique (N.D.), Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Belgium; AdPueriVitam (O.D.), Antony; Service d'Explorations Fonctionnelles (S.G.), Centre de Médecine du Sommeil, l'Hôpital Àntoine Béclère, AP-HP, Clamart; Pediatrics Departement (S.G.), André-Grégoire Hospital, Centre Hospitalier Inter Communal, Montreuil, France; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department (R.G., M. Montomoli, M.C.) and Radiology (M. Mortilla), A. Meyer Children's Hospital, Member of the ERN EpiCARE, University of Florence; IRCCS Stella Maris Foundation (R.G.), Pisa; Child Neuropsychiatry Unit, Epilepsy Center (F.L.B., A.V.), San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan; Child Neurology, NESMOS Department (P.P.), Faculty of Medicine & Psychology, Sant'Andrea Hospital, Sapienza University, Rome; Department of Neuroradiology (L.P.), Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia; Pediatric Neuroradiology Unit (M.S.), IRCCS Istituto Giannina Gaslini, Genova; Neurology Unit, Department of Neuroscience, Member of the ERN EpiCARE (F.V.), Oncological Neuroradiology Unit, Department of Imaging, IRCCS (G.C.), and Department of Neuroscience and Neurorehabilitation (A.F.), Bambino Gesù Children's Hospital, Rome, Italy; Institut Imagine (N.B.-B.), Université Paris Descartes-Sorbonne Paris Cités; Pediatric Neurology (N.B.-B., I.D.), Necker Enfants Malades Hospital, Member of the ERN EpiCARE, Assistance Publique-Hôpitaux de Paris; INSERM UMR-1163 (N.B.-B., A. Arzimanoglou), Embryology and Genetics of Congenital Malformations, France; UOC Neurochirurgia (A. Accogli, V.C.), Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa (F.Z.), and Laboratory of Neurogenetics and Neuroscience, IRCCS (F.Z.), Istituto Giannina Gaslini, Genoa, Italy; Neurochirurgie Pédiatrique (M.B.), Hôpital NEM, Paris, France; Centre Médico-Chirurgical des Eaux-Vives (V.C.-V.), Swiss Medical Network, Genève, Switzerland; Neuroradiology Unit (L.C.) and Developmental Neurology Unit (S.D.), Foundation IRCCS C. Besta Neurological Institute, Milan; Service de Génétique (M.D.-F.), AMH2, CHU Reims, UFR de Médecine, Reims, France; Epilepsy Centre-Clinic of Nervous System Diseases (G.d.), Riuniti Hospital, Foggia, Italy; MediClubGeorgia Co Ltd (N.E.), Tbilisi, Georgia; Epilepsy Center (N.E.), Medical Center, Faculty of Medicine, University of Freiburg, Germany; Child and Adolescence Neurology and Psychiatry Unit (E. Fazzi), ASST Civil Hospital, Department of Clinical and Experimental Sciences, University of Brescia; Child Neurology Department (E. Fiorini), Verona, Italy; Service de Genetique Clinique (M. Fradin, P.L., C.Q.), CLAD-Ouest, Hospital Sud, Rennes, France; Child Neurology Unit, Pediatric Department (C.F., C.S.), Azienda USL-IRCCS di Reggio Emilia; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Department of Epilepsy Genetics and Personalized Treatment (K.M.J., R.S.M.), The Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (K.M.J., R.S.M.), University of Southern Denmark, Odense; Unit of Pediatric Neurology and Pediatric Neurorehabilitation (S.L.), Woman-Mother-Child Department, Lausanne University Hospital CHUV, Switzerland; Unit of Neuroradiology (D.M.), Fondazione CNR/Regione Toscana G. Monasterio, Pisa; Pediatric Neurology Unit and Epilepsy Center (E.R., A.R.), Fatebenefratelli Hospital, Milan, Italy; KJF Klinik Josefinum GmbH (C.U.), Klinik für Kinder und Jugendliche, Neuropädiatrie, Augsburg, Germany; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (A. Arzimanoglou), University Hospitals of Lyon, Coordinator of the ERN EpiCARE, France; and Pediatric Epilepsy Unit, Child Neurology Department (P.V.), Hospital San Juan de Dios, Member of the ERN EpiCARE and Universitat de Barcelona, Spain.

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December 2020

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells 2019 10 4;8(10). Epub 2019 Oct 4.

Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T1C5, Canada.

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October 2019

Chiari malformation type I: what information from the genetics?

Childs Nerv Syst 2019 10 5;35(10):1665-1671. Epub 2019 Aug 5.

UOSD Laboratorio Neurogenetica e Neuroscienze, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

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October 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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July 2019

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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August 2019

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Pediatr Blood Cancer 2019 09 27;66(9):e27831. Epub 2019 May 27.

Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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September 2019

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Seizure 2019 Apr 7;67:57-60. Epub 2019 Mar 7.

Epilepsy Centre, Unit of Child Neuropsychiatry, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini Institute, Genoa, Italy. Electronic address:

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April 2019

Intraspinal Inclusion Tumor After Myelomeningocele Repair: A Long-Term Single-Center Experience.

World Neurosurg 2019 Feb 15;122:e1338-e1344. Epub 2018 Nov 15.

Department of Pediatric Neurosurgery, Istituto Giannina Gaslini, Genoa, Italy.

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February 2019

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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June 2018

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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October 2017

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BMC Med Genet 2016 Dec 22;17(1):98. Epub 2016 Dec 22.

Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.

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December 2016

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.

Birth Defects Res A Clin Mol Teratol 2015 Dec 14;103(12):1021-7. Epub 2015 Sep 14.

CHU Ste-Justine Research Center, Montréal, Québec, Canada.

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December 2015

Cost effective assay choice for rare disease study designs.

Orphanet J Rare Dis 2015 Feb 4;10:10. Epub 2015 Feb 4.

Department of Surgery, University of Hong Kong, Hong Kong, SAR, China.

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February 2015

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects.

Birth Defects Res A Clin Mol Teratol 2015 Jan 8;103(1):20-6. Epub 2014 Sep 8.

Department of Neurosciences, CHU Sainte Justine Research Center and University of Montréal, Genova, Italy.

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January 2015

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

Birth Defects Res A Clin Mol Teratol 2014 Aug 17;100(8):633-41. Epub 2014 May 17.

Istituto Giannina Gaslini, Genova, Italy.

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August 2014

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

Eur J Med Genet 2013 Dec 3;56(12):648-54. Epub 2013 Oct 3.

U.O.C. Neurochirurgia, Istituto Giannina Gaslini, Via G. Gaslini 5, Genova 16147, Italy. Electronic address:

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December 2013

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

J Mol Neurosci 2013 Mar 15;49(3):582-8. Epub 2012 Aug 15.

Neurosurgery Department, G. Gaslini Institute, Genova, 16148, Italy.

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March 2013

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

J Mol Neurosci 2012 Jul 14;47(3):475-80. Epub 2012 Mar 14.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.

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July 2012

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.

Birth Defects Res A Clin Mol Teratol 2012 Mar 28;94(3):176-81. Epub 2012 Feb 28.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montréal, Montréal, Canada.

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March 2012

Troubleshooting fine-tuning procedures for qPCR system design.

J Clin Lab Anal 2011 Nov;25(6):389-94

Neurosurgery Unit, Giannina Gaslini Children's Research Hospital, Genoa, Italy.

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November 2011

FZD6 is a novel gene for human neural tube defects.

Hum Mutat 2012 Feb 28;33(2):384-90. Epub 2011 Nov 28.

Neurosurgery Department, G. Gaslini Institute, Genova, Italy.

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February 2012

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Hum Mutat 2011 Dec 23;32(12):1371-5. Epub 2011 Sep 23.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada.

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December 2011

Human neural tube defects: genetic causes and prevention.

Biofactors 2011 Jul-Aug;37(4):261-8. Epub 2011 Jun 14.

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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March 2012

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

Mech Dev 2010 Jul-Aug;127(7-8):385-92. Epub 2010 Jan 4.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Quebec, Canada H3T 1C5.

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January 2011

Novel mutations in VANGL1 in neural tube defects.

Hum Mutat 2009 Jul;30(7):E706-15

CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha.kibar@ recherche-ste-justine.qc.ca

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July 2009

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

Am J Med Genet A 2007 Apr;143A(8):888-90

Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland.

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April 2007