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C. Barnerias · SciRah

Researcher profile · Semantic Scholar

C. Barnerias

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C. Barnerias — researcher profile on SciRah

h-index: 32
Works: 95
Citations: 4,235

Most-cited papers

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Y. Crow, D. Chase, Johanna L. Schmidt, M. Szynkiewicz +132 more
2015American Journal of Medical Genetics. Part A562 citations Open access
Semantic Scholar
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
G. Rice, G. Forte, M. Szynkiewicz, D. Chase +52 more
2013Lancet Neurology423 citations Open access
Semantic Scholar
Detection of interferon alpha protein reveals differential levels and cellular sources in disease
M. Rodero, J. Decalf, V. Bondet, D. Hunt +31 more
2017Journal of Experimental Medicine349 citations Open access
Semantic Scholar
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
K. Poirier, Y. Saillour, N. Bahi-buisson, X. Jaglin +13 more
2010Human Molecular Genetics264 citations Open access
Semantic Scholar
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
K. Wahbi, R. ben Yaou, E. Gandjbakhch, F. Anselme +106 more
2019Circulation225 citations Open access
Semantic Scholar
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
C. Barnerias, J. Saudubray, G. Touati, P. de Lonlay +5 more
2010Developmental Medicine & Child Neurology176 citations Open access
Semantic Scholar
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy
Julia Guillou, Alice De Pellegars, F. Porcheret, V. Frémeaux-Bacchi +8 more
2022Blood Advances143 citations Open access
Semantic Scholar
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
G. I. Rice, C. Meyzer, N. Bouazza, M. Hully +35 more
2018New England Journal of Medicine127 citations Open access
Semantic Scholar
Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
M. Marttila, V. Lehtokari, Steven B Marston, T. Nyman +37 more
2014Human Mutation113 citations Open access
Semantic Scholar
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
A. Imbard, A. Boutron, C. Vequaud, M. Zater +7 more
2011Molecular Genetics and Metabolism97 citations
Semantic Scholar
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Yohan Soreze, A. Boutron, F. Habarou, C. Barnerias +14 more
2013Orphanet Journal of Rare Diseases93 citations Open access
Semantic Scholar
Safety and Efficacy of Rituximab in Severe Juvenile Dermatomyositis: Results from 9 Patients from the French Autoimmunity and Rituximab Registry
B. Bader-Meunier, H. Decaluwe, C. Barnerias, R. Gherardi +8 more
2011Journal of Rheumatology87 citations Open access
Semantic Scholar
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
F. Audic, M. G. Garcia de la Banda, D. Bernoux, Paola Ramirez-Garcia +26 more
2020Orphanet Journal of Rare Diseases84 citations Open access
Semantic Scholar
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
D. Bonneau, E. Colin, F. Oca, Marc Ferré +16 more
2014Brain : a journal of neurology83 citations
Semantic Scholar
Epilepsy in Menkes Disease: Analysis of Clinical Stages
N. Bahi-buisson, A. Kaminska, R. Nabbout, C. Barnerias +6 more
2006Epilepsia75 citations
Semantic Scholar
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine62 citations Open access
Semantic Scholar
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
E. Lagrue, C. Dogan, M. de Antonio, F. Audic +34 more
2019Neurology59 citations
Semantic Scholar
Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.
C. Gitiaux, M. de Antonio, J. Aouizerate, R. Gherardi +9 more
2015Rheumatology59 citations Open access
Semantic Scholar
Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.
P. De Liso, N. Chemaly, J. Laschet, C. Barnerias +6 more
2016Epilepsy Research56 citations
Semantic Scholar
Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
K. Hankiewicz, R. Carlier, L. Lazaro, J. Linzoain +11 more
2015Muscle and Nerve55 citations
Semantic Scholar
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
G. Barcia, N. Chemaly, S. Gobin, M. Milh +8 more
2014European Journal of Medical Genetics55 citations
Semantic Scholar
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
A. Laquérriere, Dana Jaber, E. Abiusi, J. Maluenda +87 more
2021Journal of Medical Genetics51 citations Open access
Semantic Scholar
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis
J. Aouizerate, M. de Antonio, B. Bader-Meunier, C. Barnerias +10 more
2018Rheumatology50 citations Open access
Semantic Scholar
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T. Dupré, S. Vuillaumier-Barrot, I. Chantret, H. Yayé +10 more
2010Journal of Medical Genetics47 citations
Semantic Scholar
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
R. Porcher, I. Desguerre, H. Amthor, B. Chabrol +42 more
2021European Heart Journal44 citations Open access
Semantic Scholar
Motor neuropathy contributes to crouching in patients with Dravet syndrome
C. Gitiaux, N. Chemaly, S. Quijano-Roy, C. Barnerias +5 more
2016Neurology44 citations
Semantic Scholar
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
N. Cardone, Valentina Taglietti, S. Baratto, Kaouthar Kefi +13 more
2023Acta Neuropathologica Communications43 citations Open access
Semantic Scholar
Peripheral neuropathy and inborn errors of metabolism in adults
F. Sedel, C. Barnerias, O. Dubourg, I. Desguerres +2 more
2007Journal of Inherited Metabolic Disease41 citations
Semantic Scholar
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
M. Gómez-García de la Banda, A. Amaddeo, S. Khirani, S. Pruvost +8 more
2020Pediatric Pulmonology39 citations
Semantic Scholar
Clinical features and evolution of juvenile myasthenia gravis in a French cohort
C. Barraud, I. Desguerre, C. Barnerias, C. Gitiaux +2 more
2018Muscle and Nerve35 citations
Semantic Scholar
Adenoviral Infection Presenting as an Isolated Central Nervous System Disease without Detectable Viremia in Two Children after Stem Cell Transplantation
P. Frange, R. Peffault de Latour, C. Arnaud, N. Boddaert +10 more
2011Journal of Clinical Microbiology33 citations Open access
Semantic Scholar
A cognitive and affective pattern in posterior fossa strokes in children: a case series
M. Kossorotoff, C. Gonin-Flambois, C. Gitiaux, Susana Quijano +6 more
2010Developmental Medicine & Child Neurology33 citations
Semantic Scholar
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
K. Nguyen, Natacha Broucqsault, Charlène Chaix, Stéphane Roche +20 more
2019Journal of Medical Genetics31 citations Open access
Semantic Scholar
From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies
C. Hou, C. Durrleman, Baptiste Périou, C. Barnerias +11 more
2020Arthritis & Rheumatology26 citations Open access
Semantic Scholar
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
I. Desguerre, R. Barrois, F. Audic, C. Barnerias +25 more
2024Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
M. Hully, C. Barnerias, D. Chabalier, Sophie Le Guen +22 more
2020Frontiers in Pediatrics24 citations Open access
Semantic Scholar
Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies
Raquel Guimarães-Costa, G. Fernández-Eulate, K. Wahbi, F. Leturcq +19 more
2020European Journal of Neurology21 citations Open access
Semantic Scholar
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
R. Barrois, C. Barnerias, E. Deladrière, V. Leloup-Germa +15 more
2023Neuromuscular Disorders20 citations Open access
Semantic Scholar
Thrombotic Microangiopathy and Purtscher-like Retinopathy as a Rare Presentation of Juvenile Dermatomyositis
B. Bader-Meunier, D. Monnet, C. Barnerias, I. Halphen +6 more
2012Pediatrics20 citations
Semantic Scholar
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients
M. Gaumé, É. Saudeau, M. Gómez-García de la Banda, V. Azzi-Salameh +13 more
2021Journal of pediatric orthopedics18 citations
Semantic Scholar
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
F. Audic, Sonia M Dubois, J. Durigneux, C. Barnerias +23 more
2023Archives de pédiatrie17 citations
Semantic Scholar
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
Agathe Molimard, C. Gitiaux, C. Barnerias, F. Audic +9 more
2022Neurology17 citations
Semantic Scholar
Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease).
F. Audic, C. Barnerias
2020Archives de pédiatrie17 citations
Semantic Scholar
Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA).
J. Ropars, S. Peudenier, A. Genot, C. Barnerias +1 more
2020Archives de pédiatrie17 citations Open access
Semantic Scholar
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications
C. Castiglioni, F. Feillet, C. Barnerias, A. Wiedemann +9 more
2020Human Mutation16 citations Open access
Semantic Scholar
Epileptic spasms in congenital disorders of glycosylation.
A. Pereira, N. Bahi-buisson, C. Barnerias, N. Boddaert +4 more
2017Epileptic disorders16 citations Open access
Semantic Scholar
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
Sophie Boursange, M. Araneda, C. Stalens, I. Desguerre +10 more
2022Frontiers in Pediatrics14 citations Open access
Semantic Scholar
Clinical features of spinal muscular atrophy (SMA) type 2.
C. Cancés, C. Richelme, C. Barnerias, C. Espil
2020Archives de pédiatrie14 citations
Semantic Scholar
Hemiconvulsion–hemiplegia syndrome revisited: longitudinal MRI findings in 10 children
G. Barcia, I. Desguerre, O. Carmona, C. Barnerias +6 more
2013Developmental Medicine & Child Neurology14 citations Open access
Semantic Scholar
Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia.
N. Bahi-buisson, M. Kossorotoff, C. Barnerias, N. Boddaert +5 more
2005Developmental Medicine & Child Neurology14 citations
Semantic Scholar

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