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A. Poulat · SciRah

Researcher profile · Semantic Scholar

A. Poulat

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A. Poulat — researcher profile on SciRah

h-index: 11
Works: 27
Citations: 951

Most-cited papers

Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease
Y. Hacohen, Yu-Yi M. Wong, C. Lechner, M. Juryńczyk +21 more
2018JAMA Neurology392 citations Open access
Semantic Scholar
MOG antibody-related disorders: common features and uncommon presentations
Á. Cobo-Calvo, A. Ruiz, H. d’Indy, A. Poulat +7 more
2017Journal of Neurology121 citations
Semantic Scholar
TBC1D24 genotype–phenotype correlation
S. Balestrini, M. Milh, C. Castiglioni, Kevin Lüthy +55 more
2016Neurology87 citations Open access
Semantic Scholar
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
I. Dorboz, Hélène Dumay-Odelot, K. Boussaid, Y. Bouyacoub +12 more
2018Neurology: Genetics74 citations Open access
Semantic Scholar
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
N. Boutry-Kryza, A. Labalme, D. Ville, J. de Bellescize +15 more
2015European Journal of Medical Genetics71 citations
Semantic Scholar
Phenotypic and imaging spectrum associated with WDR45
L. Adang, A. Pizzino, A. Malhotra, H. Dubbs +18 more
2020Pediatric Neurology33 citations Open access
Semantic Scholar
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
T. M. Yates, M. Suri, A. Desurkar, G. Lesca +7 more
2018European journal of paediatric neurology33 citations
Semantic Scholar
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
N. Chatron, F. Becker, H. Morsy, M. Schmidts +41 more
2020Brain : a journal of neurology29 citations Open access
Semantic Scholar
A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.
A. Poulat, G. Lesca, D. Sanlaville, G. Blanchard +4 more
2014European journal of paediatric neurology20 citations
Semantic Scholar
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
A. Poulat, D. Ville, J. de Bellescize, N. André-Obadia +4 more
2015Epilepsy Research19 citations Open access
Semantic Scholar
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Kathrine M. Johannesen, D. Mitter, R. Janowski, C. Roth +34 more
2019Neurology: Genetics16 citations Open access
Semantic Scholar
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.
Pauline Garel, G. Lesca, D. Ville, A. Poulat +5 more
2022European journal of paediatric neurology10 citations Open access
Semantic Scholar
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
M. Faoucher, A. Poulat, N. Chatron, A. Labalme +8 more
2019Molecular Genetics and Metabolism Reports9 citations Open access
Semantic Scholar
Cognitive and academic outcomes in children with myelin oligodendrocyte glycoprotein antibody‐associated disease
Audrey Mittelman, J. Pique, V. DesPortes, K. Deiva +2 more
2024Developmental Medicine & Child Neurology8 citations Open access
Semantic Scholar
Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.
C. Rey, L. Giorgi, H. Maurey, A. Poulat +17 more
2025European journal of paediatric neurology7 citations Open access
Semantic Scholar
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
J. de Sainte Agathe, Pauline Monin, Florence Riccardi, C. Nava +49 more
2025European Journal of Neurology7 citations Open access
Semantic Scholar
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
E. Panagiotakaki, F. Tiziano, M. Mikati, L. Vijfhuizen +20 more
2023European Journal of Human Genetics7 citations Open access
Semantic Scholar
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, M. Scala +33 more
2024Neurology: Genetics6 citations Open access
Semantic Scholar
Neurological manifestations in children with SARS-CoV-2 infection: a French multicentric cohort.
J. Roux, F. Angoulvant, M. Aubart, S. Auvin +22 more
2025European journal of paediatric neurology2 citations Open access
Semantic Scholar
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Marion Lesieur-Sebellin, K. Wigby, E. Schaefer, Aurélie Gouronc +29 more
2025Journal of Medical Genetics1 citations Open access
Semantic Scholar
Electro‐Clinical Features and Functional Connectivity Analysis in SYN1 ‐Related Epilepsy
Vincent Moya Quiros, Ahmed Adham, P. Convers, G. Lesca +27 more
2024Annals of Neurology1 citations Open access
Semantic Scholar
Disease course and treatment responses in children with relapsing myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) associated disease (S51.008)
Y. Hacohen, Yu-Yi M. Wong, C. Lechner, M. Juryńczyk +18 more
2018Neurology0 citations
Semantic Scholar
Treatment responsive relapsing MOG-Ab associated demyelination
Y. Hacohen, Yu-Yi M. Wong, C. Lechner, Sukhvir K. Wright +15 more
20170 citations
Semantic Scholar
West syndrome due to compound heterozygous QARS mutations
A. Poulat, G. Lesca, N. Chatron, A. Labalme +4 more
20170 citations
Semantic Scholar
Next-generation sequencing allows a diagnostic yield of 23.7% in monogenic epilepsies
G. Lesca, A. Labalme, C. Mignot, N. Chatron +15 more
20170 citations
Semantic Scholar
Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism
Marie Faoucher, A. Putoux, C. Francannet, A. Poulat +10 more
20170 citations
Semantic Scholar
Asparagine Depletion, Safety and Antibody Production after E Coli Asparaginase Treatment in Children with Newly Diagnosed Acute Lymphoblastic Leukaemia Treated with EORTC 58951 Protocol: A Single Center Report.
Y. Bertrand, Marie-Pierre Goutagny, A. Poulat, S. Girard +7 more
20070 citations
Semantic Scholar

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