barcia giulia
barcia giulia
Afiliación desconocida
Dirección de correo verificada de
Citado por
Citado por
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
G Barcia, MR Fleming, A Deligniere, VR Gazula, MR Brown, M Langouet, ...
Nature genetics 44 (11), 1255-1259, 2012
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
R Nabbout, N Chemaly, M Chipaux, G Barcia, C Bouis, C Dubouch, ...
Orphanet journal of rare diseases 8 (1), 1-8, 2013
Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders
A Parmeggiani, G Barcia, A Posar, E Raimondi, M Santucci, MC Scaduto
Brain and Development 32 (9), 783-789, 2010
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures
X Zhang, J Ling, G Barcia, L Jing, J Wu, BJ Barry, GH Mochida, RS Hill, ...
The American Journal of Human Genetics 94 (4), 547-558, 2014
Human slack potassium channel mutations increase positive cooperativity between individual channels
GE Kim, J Kronengold, G Barcia, IH Quraishi, HC Martin, E Blair, ...
Cell reports 9 (5), 1661-1672, 2014
Autism and coeliac disease
G Barcia, A Posar, M Santucci, A Parmeggiani
Journal of Autism and Developmental Disorders 38, 407-408, 2008
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
J Chemin, K Siquier-Pernet, M Nicouleau, G Barcia, A Ahmad, ...
Brain 141 (7), 1998-2013, 2018
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness
I Perrault, FF Hamdan, M Rio, JM Capo-Chichi, N Boddaert, JC Décarie, ...
The American Journal of Human Genetics 94 (6), 891-897, 2014
Early epileptic encephalopathies associated with STXBP1 mutations: could we better delineate the phenotype?
G Barcia, N Chemaly, S Gobin, M Milh, P Van Bogaert, C Barnerias, ...
European journal of medical genetics 57 (1), 15-20, 2014
Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation
DM Cordelli, R Masetti, B Bernardi, G Barcia, V Gentile, C Biagi, A Prete, ...
Pediatric Blood & Cancer 58 (5), 785-790, 2012
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine 21 (4), 837-849, 2019
Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency
L Sánchez-Caballero, B Ruzzenente, L Bianchi, Z Assouline, G Barcia, ...
The American Journal of Human Genetics 99 (1), 208-216, 2016
NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy
D Piekutowska-Abramczuk, Z Assouline, L Mataković, RG Feichtinger, ...
The American Journal of Human Genetics 102 (3), 460-467, 2018
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
M Kuchenbuch, G Barcia, N Chemaly, E Carme, A Roubertie, M Gibaud, ...
Brain 142 (10), 2996-3008, 2019
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype
L Ouss, D Leunen, J Laschet, N Chemaly, G Barcia, EM Losito, A Aouidad, ...
Epilepsia open 4 (1), 40-53, 2019
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
H Megahed, M Nicouleau, G Barcia, D Medina-Cano, K Siquier-Pernet, ...
Orphanet Journal of Rare Diseases 11 (1), 1-8, 2016
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability
G Barcia, N Chemaly, M Kuchenbuch, M Eisermann, S Gobin-Limballe, ...
Neurology Genetics 5 (6), 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
C Bar, G Barcia, M Jennesson, G Le Guyader, A Schneider, C Mignot, ...
Human mutation 41 (1), 69-80, 2020
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
A Munnich, C Demily, L Frugère, C Duwime, V Malan, G Barcia, C Vidal, ...
Molecular Autism 10, 1-10, 2019
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20