Giulia Barcia

Giulia Barcia

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Giulia Barcia

Giulia Barcia

Publications by authors named "Giulia Barcia"

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Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clin Genet 2019 Sep 6;96(3):254-260. Epub 2019 Jun 6.

Reference Centre for Rare Epilepsies, Pediatric Neurology, Necker Enfants-Malades Hospital, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13581
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http://dx.doi.org/10.1111/cge.13581DOI Listing
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Prenat Diagn 2019 Apr 1;39(5):388-393. Epub 2019 Apr 1.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

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http://dx.doi.org/10.1002/pd.5439DOI Listing
April 2019

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open 2019 Mar 20;4(1):40-53. Epub 2018 Dec 20.

Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France.

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http://doi.wiley.com/10.1002/epi4.12281
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http://dx.doi.org/10.1002/epi4.12281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398110PMC
March 2019

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatr Genet 2019 Mar 28. Epub 2019 Mar 28.

Faculty of Medicine, University of Paris Descartes (SPC) INSERM UMR 1178/1018-CESP, University of Paris Sud-Paris Saclay, UVSQ Villejuif and Paris Descartes, SPC.

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http://dx.doi.org/10.1097/YPG.0000000000000225DOI Listing
March 2019

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Am J Med Genet A 2018 09 4;176(9):1981-1984. Epub 2018 Sep 4.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40375
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http://dx.doi.org/10.1002/ajmg.a.40375DOI Listing
September 2018

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.004DOI Listing
August 2018

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

J Autism Dev Disord 2018 08;48(8):2886-2889

Département de génétique médicale, Institut Imagine, Hôpital Necker-Enfants Malades, INSERM UMR 1163, Université Paris Descartes-Sorbonne, Paris, France.

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http://dx.doi.org/10.1007/s10803-018-3552-7DOI Listing
August 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294418PMC
December 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Dev Med Child Neurol 2013 Dec 8;55(12):1150-8. Epub 2013 Aug 8.

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hôpital Necker-Enfants malades, APHP, Paris, France; Inserm, U663, Paris, France; University Paris Descartes, CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1111/dmcn.12233DOI Listing
December 2013

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.

Orphanet J Rare Dis 2013 Nov 13;8:176. Epub 2013 Nov 13.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225757PMC
November 2013

Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation.

Pediatr Blood Cancer 2012 May 11;58(5):785-90. Epub 2011 Oct 11.

Child Neurology and Psychiatry Unit, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.

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http://dx.doi.org/10.1002/pbc.23344DOI Listing
May 2012

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders.

Brain Dev 2010 Oct 5;32(9):783-9. Epub 2010 Aug 5.

Autism Centre, Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy.

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http://dx.doi.org/10.1016/j.braindev.2010.07.003DOI Listing
October 2010

Autism and coeliac disease.

J Autism Dev Disord 2008 Feb 6;38(2):407-8. Epub 2007 Nov 6.

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http://dx.doi.org/10.1007/s10803-007-0480-3DOI Listing
February 2008