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Structure: Internal structure identifier : 527039
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane , Sami Bizzari , Asha Deepthi , Sandra Sabbagh , Hicham Mansour , et al.
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩
Journal articles hal-03538650v1
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Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Frederic Castinetti , Steven Waguespack , Andreas Machens , Shinya Uchino , Kornelia Lazaar , et al.
The Lancet. Diabetes & Endocrinology , 2019, 7 (3), pp.213-220. ⟨10.1016/S2213-8587(18)30336-X⟩
Journal articles hal-02616929v1
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Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing

Solenn M Guilbert , Déborah Cardoso , Nicolas Lévy , Antoine Muchir , Xavier Nissan
Journal articles hal-02548462v1
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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

Elena Gargaun , Sestina Falcone , Guilhem Sole , Julien Durigneux , Andoni Urtizberea , et al.
Biomedicines, 2021, 9 (2), pp.219. ⟨10.3390/biomedicines9020219⟩
Journal articles hal-03163543v1

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn , Valérie Biancalana , Mathieu Cerino , Aurélien Perrin , Laurence Michel-Calemard , et al.
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
Journal articles hal-02434896v1
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In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

Chiara Uboldi , Marcos Sanles Sobrido , Elodie Bernard , Virginie Tassistro , Nathalie Herlin-Boime , et al.
Nanomaterials, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩
Journal articles hal-02352628v1
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CFD simulations of large-scale reorganizations in PWR rod bundle flows

F. Muller , A. Burbeau , B.J. Gréa , P. Sagaut
TI2018 - 5th Internationnal conference on Turbulence and Interactions, Jun 2018, Les Trois Ilets, Martinique
Conference papers cea-02338611v1

Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

C. Hernandez-Ferrer , A. Corvó , L. Matalonga , R. Thompson , L. Carmody , et al.
Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers hal-03988747v1

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Océane Landon-Cardinal , Diane Friedman , Marguerite Guiguet , Pascal Laforet , Nicholas Heming , et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.241-249. ⟨10.3233/JND-180300⟩
Journal articles hal-02377514v1

Vacuolar myopathy with monoclonal gammapathy and stiffness: A new Monoclonal gammopathy of muscle significance

Yves Allenbach , Emmanuelle Salort-Campana , Edoardo Malfatti , Bruno Eymard , Shahram Attarian , et al.
GCOM 2019 - Global Conference on Myositis 2019, Mar 2019, Berlin, Germany. , BMC Rheumatology Poster presentation n° P133, 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩
Conference poster hal-03832060v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre , et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal articles hal-03619568v1
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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Celine Guien , Gaëlle Blandin , Pauline Lahaut , Benoît Sanson , Katia Nehal , et al.
Orphanet Journal of Rare Diseases, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Journal articles hal-01984873v1

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome

Antoine Tabarin , Guillaume Assie , Pascal Barat , Fideline Bonnet , Jean Francois Bonneville , et al.
Annales d'Endocrinologie, 2022, ⟨10.1016/j.ando.2022.02.001⟩
Journal articles hal-03604251v1

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , et al.
Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩
Journal articles hal-02461440v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora , et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1

The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.

Carles Hernandez-Ferrer , Leslie Matalonga , Rachel Thompson , Leigh Carmody , Davide Piscia , et al.
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Conference poster hal-03988844v1
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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

Thibaut Benquey , Emmanuelle Pion , Mireille Cossée , Martin Krahn , Tanya Stojkovic , et al.
Genes, 2022, 13 (2), pp.318. ⟨10.3390/genes13020318⟩
Journal articles hal-03590138v1
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Susana Quijano-Roy , Jana Haberlova , Claudia Castiglioni , John Vissing , Francina Munell , et al.
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Journal articles hal-03359688v1
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Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Tristan Celse , Caroline Cazin , Flore Mietton , Guillaume Martinez , Delphine Martinez , et al.
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Journal articles hal-03025179v1

The Treatabolome flags treatable genes and variants: an emerging concept

A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson , et al.
ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Conference papers hal-03989142v1

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Mathieu Cerino , Svetlana Gorokhova , P. Laforêt , R. Ben Yaou , Emmanuelle Salort-Campana , et al.
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩
Conference poster hal-03973434v1

Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

K. Yauy , David Baux , H. Pegeot , C. van Goethem , C. Mathieu , et al.
European Journal of Human Genetics, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩
Journal articles hal-02461436v1

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Davide Pareyson , Tanya Stojkovic , Mary M. Reilly , Sarah Leonard-Louis , Matilde Laura , et al.
Annals of Neurology, 2019, 86 (1), pp.55-67. ⟨10.1002/ana.25500⟩
Journal articles hal-02461442v1

Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

S. Benoit , C. Stalens , L. Villa , Celine Guien , S. Rabarimeriarijaona , et al.
5. Congress of the European-Academy-of-Neurology (EAN), Jun 2019, Oslo, Norway. 1 p., ⟨10.1111/ene.14018⟩
Conference papers hal-02735494v1

Predictive value of vascular endothelial growth factor polymorphisms for maintenance bevacizumab efficacy in metastatic colorectal cancer: an ancillary study of the PRODIGE 9 phase III trial

Bernadette de Rauglaudre , Camille Sibertin-Blanc , Aurelie J Fabre , Karine Le Malicot , Jaafar Bennouna , et al.
Therapeutic Advances in Medical Oncology, 2022, 14, pp.175883592211413. ⟨10.1177/17588359221141307⟩
Journal articles hal-04100128v1
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Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Antonina Karas , Yuwu Jiang , Liping Zou , Kaifeng Xu , Yushi Zhang , et al.
Frontiers in Neurology, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩
Journal articles hal-03603521v1
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Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice

Marie-Solenne Felix , Emilie Borloz , Khaled Metwally , Ambre Dauba , Benoit Larrat , et al.
Pharmaceutics, 2021, 13, ⟨10.3390/pharmaceutics13081245⟩
Journal articles hal-03408975v1

LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

R. Ben Yaou , T. Stojkovic , Mathieu Cerino , F. Duval , R. Juntas-Morales , et al.
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩
Conference poster hal-03973478v1
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Juliette Bacquet , Tanya Stojkovic , Amandine Boyer , Nathalie Martini , Frédérique Audic , et al.
BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
Journal articles hal-01984168v1

Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies

Jocelyn Laporte , Raphael Schneider , Edoardo Malfatti , Gisèle Bonne , France Leturcq , et al.
9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
Conference papers hal-03986850v1