Giulia Barcia - Concepedia

Author

Giulia Barcia

Also Known As

Barcia, Giulia, G Barcia, G. Barcia, Geneviève Baujat, Giulia Barcia, Guilia Barcia, Gulia Barcia, Nathalie Boddaert, Stéphanie Arpin, V Tsatsaris

150

Publications

3.4K

Citations

H-Index

Concepts

All Affiliations

Université Paris Cité Hôpital Necker-Enfants Malades Inserm Assistance Publique – Hôpitaux de Paris Institut des Maladies Génétiques Imagine

About

Giulia Barcia is an author at Université Paris Cité specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	23	1.6K
2	Social Sciences	9	9	564
3	Engineering	2	2	266
4	Natural Sciences	2	2	44
5	Cell Biology	2	2	539

Giulia Barcia

Publications

2.9K

Citations

H-Index

Page 1

	Year	Citations
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Nature Genetics Developmental BiologyHyperpolarization (Biology)Ion ChannelsMedicineCell Biology	2012	517
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis H. Christian Martin, Grace Kim, A. T. Pagnamenta, Human Molecular Genetics EngineeringGeneticsDisease Gene IdentificationGenomicsPotassium Channel	2014	255
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy Rima Nabbout, Nicole Chémaly, Mathilde Chipaux, Orphanet Journal of Rare Diseases	2013	192
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, The American Journal of Human Genetics Encoding Glutaminyl-trna SynthetaseNeurodegenerative DiseasesMolecular NeuroscienceNeurological DisorderGenetic Disorder	2014	136
Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels Grace Kim, Jack Kronengold, Giulia Barcia, Cell Reports	2014	127
Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders Antonia Parmeggiani, Giulia Barcia, Annio Posar, Brain and Development Neurodevelopmental DisordersNeurophysiologySyndromic AutismAutismNeuroscience	2010	125
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Brain Neurodevelopmental DisordersChannelopathiesCerebellar AtrophyDevelopmental BiologyMendelian Disorder	2018	104
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype Lisa Ouss, Dorothée Leunen, Jacques Laschet, Epilepsia Open	2018	66
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Nature Communications	2020	60
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, The American Journal of Human Genetics Mitochondrial MyopathyMitochondrial BiogenesisMitochondrial FunctionLeigh-like EncephalomyopathyGenetic Disorder	2018	58

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