Giovanni Crichiutti

Giovanni Crichiutti

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Giovanni Crichiutti

Giovanni Crichiutti

Publications by authors named "Giovanni Crichiutti"

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Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Sleep disorders in children with brain tumors: a pilot study based on a sleep disorder questionnaire.

Childs Nerv Syst 2018 08 26;34(8):1535-1540. Epub 2018 Apr 26.

Unit of Pediatric Radiotherapy, Centro di Riferimento Oncologico CRO, Aviano, Italy.

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http://dx.doi.org/10.1007/s00381-018-3809-7DOI Listing
August 2018

Association Between Migraine and Atopic Diseases in Childhood: A Potential Protective Role of Anti-Allergic Drugs.

Headache 2017 Apr 4;57(4):612-624. Epub 2017 Feb 4.

Pediatric Migraine and Neurovascular Diseases Unit, Assistance Publique-Hôpitaux de Paris, CHU Robert Debré, Université Paris Diderot, Sorbonne Paris-Cité, INSERM U1141, Paris, France.

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http://dx.doi.org/10.1111/head.13032DOI Listing
April 2017

A Cerebral Infarction in a Girl With Sturge-Weber Syndrome.

Pediatr Neurol 2016 Nov 18;64:99-100. Epub 2016 Aug 18.

Department of Clinical and Experimental Medical Sciences, University-Hospital of Udine, Udine, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.007DOI Listing
November 2016

Association between functional gastrointestinal disorders and migraine in children and adolescents: a case-control study.

Lancet Gastroenterol Hepatol 2016 10 24;1(2):114-121. Epub 2016 Aug 24.

Department of Pediatric Emergency Care, Assistance Publique Hôpitaux (APHP) Hospital Robert Debré, Paris, France; Pediatric Migraine and Neurovascular Diseases Unit, Assistance Publique Hôpitaux (APHP) Hospital Robert Debré, Paris, France; INSERM, U1141, DHU PROTECT, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/S2468-1253(16)30038-3DOI Listing
October 2016

Recurrent seizures during acute acquired toxoplasmosis in an immunocompetent traveller returning from Africa.

Infection 2016 Apr 14;44(2):259-62. Epub 2015 Jul 14.

Clinic of Infectious Diseases, Azienda Ospedaliero-Universitaria di Udine, Udine, Italy.

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http://dx.doi.org/10.1007/s15010-015-0821-7DOI Listing
April 2016

Ultrasound detection of pneumonia in febrile children with respiratory distress: a prospective study.

Eur J Pediatr 2016 Feb 19;175(2):163-70. Epub 2015 Aug 19.

Department of Clinical and Experimental Medical Sciences, Unit of Paediatrics, University Hospital of Udine, Ple. Santa Maria della Misericordia 15, Udine, 33100, Italy.

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http://link.springer.com/10.1007/s00431-015-2611-8
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http://dx.doi.org/10.1007/s00431-015-2611-8DOI Listing
February 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Pharmacokinetic/pharmacodynamic evaluation of linezolid in hospitalized paediatric patients: a step toward dose optimization by means of therapeutic drug monitoring and Monte Carlo simulation.

J Antimicrob Chemother 2015 Jan 1;70(1):198-206. Epub 2014 Sep 1.

Institute of Clinical Pharmacology, Azienda Ospedaliero-Universitaria Santa Maria della Misericordia, Udine, Italy Department of Experimental and Clinical Medical Sciences, University of Udine, Udine, Italy

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http://dx.doi.org/10.1093/jac/dku337DOI Listing
January 2015

Lack of pathogenic mutations in six patients with MMPSI.

Epilepsy Res 2014 Feb 16;108(2):340-4. Epub 2013 Nov 16.

Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery and "SS. Giovanni di Dio e Ruggi d'Aragona - Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211130029
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http://dx.doi.org/10.1016/j.eplepsyres.2013.11.007DOI Listing
February 2014

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

Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy.

Epilepsy Res 2012 Jun 3;100(1-2):142-51. Epub 2012 Mar 3.

Laboratory of Neurological Disorders, Mario Negri Institute for Pharmacological Research, Milano, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.02.005DOI Listing
June 2012

Predictors of intracranial injuries in children after blunt head trauma.

Eur J Pediatr 2006 Mar 26;165(3):142-8. Epub 2005 Nov 26.

Dipartimento di Pediatria, Università di Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://link.springer.com/content/pdf/10.1007%252Fs00431-005-
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http://link.springer.com/10.1007/s00431-005-0019-6
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http://dx.doi.org/10.1007/s00431-005-0019-6DOI Listing
March 2006