Christine Barnérias
A5064898000- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Inflammatory Myopathies and Dermatomyositis
- Myasthenia Gravis and Thymoma
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- RNA regulation and disease
- Epilepsy research and treatment
- Family and Disability Support Research
- Fetal and Pediatric Neurological Disorders
- Eosinophilic Disorders and Syndromes
- Peripheral Neuropathies and Disorders
- Neurological diseases and metabolism
- interferon and immune responses
- RNA Research and Splicing
- Neonatal Respiratory Health Research
- Parkinson's Disease Mechanisms and Treatments
- Inflammasome and immune disorders
Assistance Publique – Hôpitaux de Paris
2016-2025
Hôpital Necker-Enfants Malades
2016-2025
Université Paris Cité
2012-2024
Inserm
2007-2023
University of Zurich
2023
Collaborative Group (United States)
2023
Institut des Maladies Génétiques Imagine
2016-2023
Institut Necker Enfants Malades
2013-2020
Université de Tours
2019
Sorbonne Université
2007-2019
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1 , RNASEH2A RNASEH2B RNASEH2C SAMHD1 ADAR or IFIH1 . We report on 374 patients from 299 families with these seven genes. Most conformed one two fairly stereotyped clinical profiles; either exhibiting utero disease‐onset (74 patients; 22.8% all where data were available), a post‐natal presentation, usually within the first year life (223 68.6%), characterized by sub‐acute encephalopathy and loss...
Type I interferons (IFNs) are essential mediators of antiviral responses. These cytokines have been implicated in the pathogenesis autoimmunity, most notably systemic lupus erythematosus (SLE), diabetes mellitus, and dermatomyositis, as well monogenic type interferonopathies. Despite a fundamental role health disease, direct quantification IFNs has challenging. Using single-molecule array (Simoa) digital ELISA technology, we recorded attomolar concentrations IFNα healthy donors, viral...
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have common ocular motility disorder, congenital fibrosis of extraocular muscle type 3 (CFEOM3). Surprisingly and contrast previously described TUBA1A TUBB2B phenotypes, no evidence dysfunctional neuronal migration cortical organization was reported. In our study, we report discovery six novel missense mutations including one fetal case homozygous...
Background: An accurate estimation of the risk life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 839 adult mutations, including 660 from a French nationwide registry development sample, and 179 other countries, referred 5 tertiary centers cardiomyopathies, validation sample. LTVTA was defined as (1) sudden cardiac death or (2) cardioverter...
Abstract Adeno-associated virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA). We report first case of fatal systemic thrombotic microangiopathy (TMA) following a 6-month-old child with SMA type 1, carrying potential genetic predisposition complement factor I gene. Other cases TMA have recently been reported after and AAV9 minidystrophin therapy Duchenne muscular dystrophy. The risk-benefit ratio this must therefore...
To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency.Twenty-two participants with enzymologically genetically confirmed PDHc deficiency were analysed for clinical imaging features over a 15-year period.Four groups identified: (1) those neonatal encephalopathy lactic acidosis (one male, four females; diagnosis at birth); (2) non-progressive infantile (three males, three age 2-9mo); (3) Leigh syndrome (eight males; 1-13mo); (4) relapsing ataxia 18-30mo)....
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap core-rod congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate clinical picture these diseases with novel (19) previously reported (31) mutations TPM2 TPM3 genes. Included are altogether 93 families: 53 40 mutations. Thirty distinct pathogenic variants 20 have been published or listed in Leiden Open Variant Database (http://www.dmd.nl/). Most...
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells spinal cord. Nusinersen has been covered public healthcare in France since May 2017. The aim this article to report results after 1 year treatment with intrathecal nusinersen children SMA types and 2 France. Comparisons between onset (T0) (Y1) were made terms motor function need for nutritional ventilatory support. Motor development...
Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved the de novo pathway recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no mutation was found so far specific process to apoenzymes pyruvate dehydrogenase (PDHc), α-ketoglutarate (α-KGDHc) branched chain α-keto (BCKDHc) complexes.Exome capture performed boy who developed Leigh disease following gastroenteritis had combined PDH α-KGDH deficiency with...
To evaluate the safety and efficacy of rituximab (RTX) in juvenile dermatomyositis (JDM) off-trial patients.We conducted a multicenter prospective study patients with JDM included French Autoimmunity Rituximab (AIR) registry.Nine severe were studied. The main indication for RTX treatment was and/or refractory muscle involvement (7 patients), calcinosis (1 patient), or chronic abdominal pain associated lipomatosis patient). corticosteroids, immunosuppressive drugs, plasma exchange therapy...
Objective. Outcome of JDM is highly heterogeneous. Our objective was to determine clinical and muscle biopsy features associated with poor outcome response treatment. Methods. Clinical data were obtained from a monocentric cohort 29 patients. subgroups defined by latent class model analysis initial follow-up parameters. Myopathological analysed using validated scores. Capillary loss determined on reconstructions transversal sections assessed in the different age groups take into account...
To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide solid frame of data for future evidence-based health management.Among the 2,697 patients with genetically confirmed DM1 included in French DM-Scope registry, children were enrolled between January 2010 February 2016 from 24 centers. Comprehensive cross-sectional analysis most relevant qualitative quantitative variables was performed.We studied 314 (52% females, 55% congenital,...
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the diagnosis rates of AMC, evaluate added value whole exome sequencing (WES) compared with targeted (TES) identify new genes 315 unrelated undiagnosed families. Methods Several genomic approaches used including mapping disease loci consanguineous families, TES then WES. Sanger was...
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to worldwide largest cohorts patients with NPH, analysis encompassing targeted whole exome sequencing identified disease-causing variants 600 from 496 families detection rate 71%. Of 788 pathogenic variants, 40 known genes were identified. However, majority (53%) bore biallelic NPHP1....
Myositis-specific autoantibodies (MSAs) are increasingly used to delineate distinct subgroups of JDM. The aim our study was explore without a priori hypotheses whether MSAs associated with clinical-pathological changes and severity in monocentric JDM cohort.Clinical, biological histological findings from 23 patients were assessed. Twenty-six histopathological parameters subjected multivariate analysis.Autoantibodies included anti-NXP2 (9/23), anti-TIF1γ (4/23), anti-MDA5 (2/23), no (8/23)....
PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy males and females. We aimed to investigate sex-specific differences.MethodsWe collected the data of 37 unpublished patients (18 19 females) IQSEC2 pathogenic variants 5 individuals unknown significance reviewed published variants. compared variant types phenotypes females performed an analysis isoforms.ResultsIQSEC2 mainly led premature truncation were scattered throughout...
The aim of this study was to delineate the spectrum muscle involvement in patients with a myopathy due mutations SEPN1 (SEPN1-RM).Whole-body magnetic resonance imaging (WBMRI) used 9 using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) 5 patients.Analysis signal volume abnormalities by T1-TSE 109 muscles showed homogeneous pattern characterized recognizable combination atrophy selected neck, trunk, pelvic girdle, lower limbs. Severe wasting...
To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD).We analysed data from French multicentre DMD Heart Registry (ClinicalTrials.gov: NCT03443115). We estimated association between prescription ACEi and event-free 668 patients aged 8 to 13 years, with normal left ventricular function, using (i) a Cox model intervention as time-dependent covariate, (ii) propensity-based analysis comparing treatment vs. no...
Duchenne muscular dystrophy (DMD) is a devastating X-linked disease, caused by mutations in the DMD gene encoding Dystrophin and affecting 1:5000 boys worldwide. Lack of leads to progressive muscle wasting degeneration resulting cardiorespiratory failure. Despite absence definitive cure, innovative therapeutic avenues are emerging. Myopathologic studies important further understand biological mechanisms disease identify histopathologic benchmarks for clinical evaluations. We conducted...