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Structure: Internal structure identifier : 553082

BRG1-SWI/SNF-dependent regulation of the Wt1 transcriptional landscape mediates epicardial activity during heart development and disease

Joaquim Vieira , Sara Howard , Cristina Villa del Campo , Sveva Bollini , Karina Dubé et al.
Nature Communications, 2017, 8, ⟨10.1038/ncomms16034⟩
Journal articles hal-03676413v1

Long-Term Follow-up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott - Aldrich Syndrome

Alessandra Magnani , Michaela Semeraro , Frédéric Adam , Claire Booth , Loic Dupre et al.
Blood, 2021, 138 (Supplement 1), pp.2934-2934. ⟨10.1182/blood-2021-147697⟩
Journal articles hal-04018920v1

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands

Jennifer Morgan , Gillian Butler-Browne , Francesco Muntoni , Ketan Patel , Helge Amthor et al.
Neuromuscular Disorders, 2019, 29 (9), pp.704-715. ⟨10.1016/j.nmd.2019.07.003⟩
Journal articles hal-03201551v1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Journal articles hal-01560951v1
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Clinical, Virological and Immunological Subphenotypes in a Cohort of Early Treated HIV-Infected Children

Sara Domínguez-Rodríguez , Alfredo Tagarro , Caroline Foster , Paolo Palma , Nicola Cotugno et al.
Frontiers in Immunology, 2022, 13, pp.875692. ⟨10.3389/fimmu.2022.875692⟩
Journal articles hal-03814323v1
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Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Amelia Shoemark , Bruna Rubbo , Marie Legendre , Mahmoud Fassad , Eric Haarman et al.
European Respiratory Journal, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩
Journal articles inserm-03791242v1
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Droplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients

Elisa Izquierdo , Paula Proszek , Giulia Pericoli , Sara Temelso , Matthew Clarke et al.
Neuro-Oncology Advances, 2021, 3 (1), pp.vdab013. ⟨10.1093/noajnl/vdab013⟩
Journal articles hal-03709440v1

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Marc Patterson , Peter Clayton , Ppaul Gissen , Mathieu Anheim , Peter Bauer et al.
Neurology: Clinical Practice, 2017, 7 (6), pp.499-511. ⟨10.1212/CPJ.0000000000000399⟩
Journal articles hal-03691173v1
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An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic

Mathieu Kuchenbuch , Gianluca d'Onofrio , Elaine Wirrell , Yuwu Jiang , Sophie Dupont et al.
Epilepsy & Behavior, 2020, 112, pp.107376 -. ⟨10.1016/j.yebeh.2020.107376⟩
Journal articles hal-03491578v1

Chapter 6. From Atomic Orbitals to Nano-scale Charge Transport with Mixed Quantum/Classical Non-adiabatic Dynamics: Method, Implementation and Application

Samuele Giannini , Antoine Carof , Matthew Ellis , Orestis Ziogos , Jochen Blumberger et al.
Multiscale Dynamics Simulations, Royal Society of Chemistry, pp.172-202, 2021, Theoretical and Computational Chemistry Series, ⟨10.1039/9781839164668-00172⟩
Book sections hal-03639746v1
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli , Domenic Scaglioni , Valentina Sardone , Matthew J Ellis , Joana Domingos et al.
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955 - 965. ⟨10.1093/jnen/nlab088⟩
Journal articles hal-03454233v1

Outcome of Stage IV Completely Necrotic Wilms Tumour and Local Stage III Treated According to the SIOP 2001 Protocol

Raquel Dávila Fajardo , Rhoikos Furtwängler , Martine van Grotel , Harm van Tinteren , Claudia Pasqualini et al.
Cancers, 2021, 13 (5), pp.976. ⟨10.3390/cancers13050976⟩
Journal articles hal-03520022v1

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott–Aldrich syndrome

A. Magnani , M. Semeraro , F. Adam , C. Booth , Loïc Dupré et al.
Nature Medicine, 2022, 28 (1), pp.71-80. ⟨10.1038/s41591-021-01641-x⟩
Journal articles hal-03776861v1

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Mahmoud R. Fassad , Amelia Shoemark , Marie Legendre , Robert A. Hirst , France Koll et al.
American Journal of Human Genetics, 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩
Journal articles hal-02178023v1

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

Francesco Muntoni , Enrico Bertini , Giacomo Comi , Janbernd Kirschner , Anna Lusakowska et al.
Neuromuscular Disorders, 2020, 30 (12), pp.959-969. ⟨10.1016/j.nmd.2020.10.008⟩
Journal articles hal-03638995v1

Motile cilia and airway disease

Marie Legendre , Laure-Emmanuelle Zaragosi , Hannah Mitchison
Seminars in Cell and Developmental Biology, 2021, 110, pp.19-33. ⟨10.1016/j.semcdb.2020.11.007⟩
Journal articles inserm-03780781v1