A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane
,
Sami Bizzari
,
Asha Deepthi
,
Sandra Sabbagh
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Hicham Mansour
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et al.
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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
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Kornelia Lazaar
,
et al.
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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
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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.
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hal-03163543v1
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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.
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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⟩
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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
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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
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hal-03988747v1
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Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis
Océane Landon-Cardinal
,
Diane Friedman
,
Marguerite Guiguet
,
Pascal Laforet
,
Nicholas Heming
,
et al.
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hal-02377514v1
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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⟩
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hal-03832060v1
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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.
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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.
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hal-01984873v1
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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.
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hal-03604251v1
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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.
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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.
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hal-03820933v1
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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
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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.
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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 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.
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hal-03025179v1
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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
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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
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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.
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hal-02461436v1
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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.
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hal-02461442v1
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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
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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.
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.
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.
Journal articles
hal-03408975v1
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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⟩
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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.
Journal articles
hal-01984168v1
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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
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