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Structure: Internal structure identifier : 300093

A look into the past: Improves in obstetrical and neonatal outcome in maternity since the 19th century

E. Ricard , X. Carcopino , Loïc Lalys , J. Bertrand , R. Le Du , et al.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 2011, 40 (6), pp.549-556. ⟨10.1016/j.jgyn.2011.01.016⟩
Journal articles halshs-00738199v1

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío Villar-Quiles , Sandra Donkervoort , Alix de Becdelièvre , Corine Gartioux , Valérie Jobic , et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.633-645. ⟨10.3233/JND-200577⟩
Journal articles hal-04074044v1

MUSK, a new target for mutations causing congenital myasthenic syndrome

Frédéric Chevessier , Brice Faraut , Aymeric Ravel-Chapuis , Pascale Richard , Karen Gaudon , et al.
Human Molecular Genetics, 2004, 13 (24), pp.3229-3240. ⟨10.1093/hmg/ddh333⟩
Journal articles hal-03863846v1

The histomolecular criteria established for adult anaplastic pilocytic astrocytoma are not applicable to the pediatric population

Albane Gareton , Arnault Tauziède-Espariat , Volodia Dangouloff-Ros , Alexandre Roux , Raphaël Saffroy , et al.
Acta Neuropathologica, 2019, ⟨10.1007/s00401-019-02088-8⟩
Journal articles hal-02441067v1

Chordoid Gliomas of the Third Ventricle Share TTF-1 Expression With Organum Vasculosum of the Lamina Terminalis

F Bielle , C Villa , M Giry , Am Bergemer-Fouquet , M Polivka , et al.
American Journal of Surgical Pathology, 2015, 39 (7), pp.948-956. ⟨10.1097/PAS.0000000000000421⟩
Journal articles hal-01587306v1
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Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation

Louisa Goumidi , Florian Thibord , Kerri Wiggins , Ruifang Li-Gao , Michael Brown , et al.
Blood, 2021, 137 (17), pp.2394-2402. ⟨10.1182/blood.2020008997⟩
Journal articles hal-03135635v1
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Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

P. Suchon , Marie Germain , A. Delluc , D. Smadja , X. Jouven , et al.
Scientific Reports, 2017, 7, pp.45507. ⟨10.1038/srep45507⟩
Journal articles hal-01517355v1

Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK

Frédéric Chevessier , Brice Faraut , Aymeric Ravel-Chapuis , Pascale Richard , Karen Gaudon , et al.
Journal de la Société de Biologie, 2005, 199 (1), pp.61-77. ⟨10.1051/jbio:2005008⟩
Journal articles istex hal-03864221v1
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Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis

Florian Thibord , Gaelle Munsch , C. Perret , P. Suchon , M. Roux , et al.
European Heart Journal Supplements, 2020, 22 (Suppl C), pp.C34-c45. ⟨10.1093/eurheartj/suaa008⟩
Journal articles hal-03145845v1
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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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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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Analysis of the DYSF mutational spectrum in a large cohort of patients

Martin Krahn , Christophe Béroud , Véronique Labelle , Karine Nguyen , Rafaelle Bernard , et al.
Human Mutation, 2009, 30 (2), pp.E345 - E375. ⟨10.1002/humu.20910⟩
Journal articles hal-01681841v1

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine Bladen , Karen Rafferty , Volker Straub , Soledad Monges , Angélica Moresco , et al.
Human Mutation, 2013, 34 (11), pp.1449 - 1457. ⟨10.1002/humu.22390⟩
Journal articles istex hal-01681801v1

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

V. Biancalana , S. Scheidecker , M. Miguet , A. Laquerrière , N.B. Romero , et al.
Acta Neuropathologica, 2017, 134 (6), pp.889--904. ⟨10.1007/s00401-017-1748-0⟩
Journal articles hal-01721411v1

Immunization and multiple sclerosis: Recommendations from the French Multiple Sclerosis Society

C. Lebrun , S. Vukusic , V. Abadie , C. Achour , F. Ader , et al.
Revue Neurologique, 2019, 175 (6), pp.341-357. ⟨10.1016/j.neurol.2019.04.001⟩
Journal articles hal-02546158v1

Possible modulation of the mouse respiratory rhythm generator by A1/C1 neurones.

Sebastien Zanella , J. C. Roux , J. C. Viemari , Gérard Hilaire
Respiratory Physiology & Neurobiology, 2006, 153 (2), pp.126-38. ⟨10.1016/j.resp.2005.09.009⟩
Journal articles istex hal-00300414v1
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Associations of autozygosity with a broad range of human phenotypes

David J. Clark , Yukinori Okada , Kristjan Moore , Dan Mason , Nicola Pirastu , et al.
Nature Communications, 2019, 10 (1), pp.4957. ⟨10.1038/s41467-019-12283-6⟩
Journal articles hal-02651737v1
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Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53 -Mutant Clonal Hematopoiesis

Rathana Kim , Hugo Bergugnat , Lise Larcher , Matthieu Duchmann , Marie Passet , et al.
Blood Cancer Discovery, 2023, 4 (2), pp.134-149. ⟨10.1158/2643-3230.BCD-22-0154⟩
Journal articles hal-04090842v1

7T Epilepsy Task Force Consensus Recommendations on the Use of 7T MRI in Clinical Practice

Giske Opheim , Anja van Der Kolk , Karin Markenroth Bloch , Albert Colon , Kathryn Davis , et al.
Neurology, 2021, 96 (7), pp.327-341. ⟨10.1212/WNL.0000000000011413⟩
Journal articles hal-03501353v1

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Al Soilly , C Robert-Viard , C Besse , Al Bruel , B Gerard , et al.
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
Journal articles hal-04164227v1

A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study

Karim Labreche , Mailys Daniau , Amit Sud , Philip J Law , Louis Royer-Perron , et al.
Neuro-Oncology, 2019, 21 (8), pp.1039-1048. ⟨10.1093/neuonc/noz088⟩
Journal articles hal-02328989v1

Long-term results of carmustine wafer implantation for newly diagnosed glioblastomas: a controlled propensity-matched analysis of a French multicenter cohort

Johan Pallud , Etienne Audureau , Georges Noel , Robert Corns , Emmanuèle Lechapt-Zalcman , et al.
Neuro-Oncology, 2015, 17 (12), pp.1609--1619. ⟨10.1093/neuonc/nov126⟩
Journal articles hal-01275524v1
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Christophe Béroud , Sylvie Tuffery-Giraud , Masafumi Matsuo , Dalil Hamroun , Véronique Humbertclaude , et al.
Human Mutation, 2007, 28 (2), pp.196-202. ⟨10.1002/humu.20428⟩
Journal articles istex inserm-00381940v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian , et al.
American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩
Journal articles hal-01610022v1
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ShearWave TM Elastography A new real time imaging mode for assessing quantitatively soft tissue viscoelasticity

J Bercoff , A Criton , C C Bacrie , J Souquet , M Tanter , et al.
2008 IEEE Ultrasonics Symposium, IEEE, Nov 2008, Beijing, China. ⟨10.1109/ULTSYM.2008.0079⟩
Conference papers hal-03275099v1
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Bayesian Network Analysis of plasma microRNA sequencing data in patients with venous thrombosis

Florian Thibord , Gaëlle Munsch , Claire Perret , Pierre Suchon , Maguelonne Roux , et al.
European Heart Journal Supplements, In press, Epub Ahead of print
Journal articles inserm-02310241v1

The Astrocyte—Neuron Lactate Shuttle: A Debated but still Valuable Hypothesis for Brain Imaging

Gilles Bonvento , Anne-Sophie Herard , Brigitte Voutsinos-Porche
Journal of Cerebral Blood Flow and Metabolism, 2005, 25 (10), pp.1394-1399. ⟨10.1038/sj.jcbfm.9600127⟩
Journal articles hal-02155604v1

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

M de Antonio , C Dogan , B Eymard , J Puymirat , J Mathieu , et al.
Orphanet Journal of Rare Diseases, 2019
Journal articles hal-04015406v1