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Structure: Internal structure identifier : 327452
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Montse Olivé , Martin Engvall , Gianina Ravenscroft , Macarena Cabrera-Serrano , Hong Jiao , et al.
Nature Communications, 2019, 10, pp.1396. ⟨10.1038/s41467-019-09111-2⟩
Journal articles hal-02110885v1
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Avelumab Versus Docetaxel in Patients With Platinum-Treated Advanced NSCLC: 2-Year Follow-Up From the JAVELIN Lung 200 Phase 3 Trial

Florian Roisné-Hamelin , Sabrina Pobiega , Kévin Jézéquel , Simona Miron , Jordane Dépagne , et al.
Journal of Thoracic Oncology, 2021, 16 (8), pp.1369-1378. ⟨10.1016/j.jtho.2021.03.009⟩
Journal articles hal-03627353v1

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Marine Germain , Mélanie Eyries , David Montani , Odette Poirier , Barbara Girerd , et al.
Nature Genetics, 2013, 45 (5), pp.518-521. ⟨10.1038/ng.2581⟩
Journal articles hal-02565627v1

Activated natural killer cell transcripts predict graft outcome in kidney transplantation: The BIOMARGIN study

Saleh Yazdani , Stéphane Gazut , Dany Anglicheau , Wilfried Gwinner , Marie Essig , et al.
18th Congress of the European Society for Organ Transplantation, European Society for Organ Transplantation, Sep 2017, Barcelona, Spain. p110 - OS308, ⟨10.1111/tri.13051⟩
Conference papers cea-01883442v1
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Health effects of ionising radiation in paediatrics undergoing either cardiac fluoroscopy or modern radiotherapy (The HARMONIC project)

Isabelle Thierry-Chef , Beate Timmermann , Neige Journy , Marie-Odile Bernier , Richard Mcnally , et al.
EPJ N - Nuclear Sciences & Technologies, 2023, 9, pp.22. ⟨10.1051/epjn/2023009⟩
Journal articles hal-04195751v1


Saleh Yazdani , Stéphane Gazut , Dany Anglicheau , Wilfried Gwinner , Marie Essig , et al.
18th Congress of the European Society for Organ Transplantation, European Society for Organ Transplantation, Sep 2017, Barcelona, Spain. p18 - OS028, ⟨10.1111/tri.13051⟩
Conference papers cea-01883397v1

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz , Christelle Michiels , Marion Neuillé , Christoph Friedburg , Christel Condroyer , et al.
Human Mutation, 2019, 40 (6), pp.765-787. ⟨10.1002/humu.23735⟩
Journal articles hal-02616948v1

Resistance of Omicron subvariants BA.2.75.2, BA.4.6 and BQ.1.1 to neutralizing antibodies

Delphine Planas , Timothée Bruel , Isabelle Staropoli , Florence Guivel-Benhassine , Françoise Porrot , et al.
bioRxiv : the preprint server for biology, 2022, ⟨10.1101/2022.11.17.516888⟩
Journal articles pasteur-04082579v1
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Integrated care pathways for airway diseases (AIRWAYS-ICPs)

J. Bousquet , A Addis , I Adcock , I. Agache , A Agusti , et al.
European Respiratory Journal, 2014, 60, ⟨10.1183/09031936.00014614⟩
Journal articles hal-02565409v1
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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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Correlation between work impairment, scores of rhinitis severity and asthma using the MASK-air® App

Annabelle Bédard , Josep M. Antó , Joao A. Fonseca , Sylvie Arnavielhe , Claus Bachert , et al.
Allergy, 2020, 75 (7), pp.1672-1688. ⟨10.1111/all.14204⟩
Journal articles hal-02462027v1
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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Johanna Palmio , Sarah Léonard-Louis , Sabrina Sacconi , Marco Savarese , Sini Penttilä , et al.
Journal of Neurology, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Journal articles hal-02064991v1
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Natural killer cell infiltration is discriminative for antibody-mediated rejection and predicts outcome after kidney transplantation

Saleh Yazdani , Jasper Callemeyn , Stéphane Gazut , Evelyne Lerut , Henriette de Loor , et al.
Kidney International, 2019, 95 (1), pp.188-198. ⟨10.1016/j.kint.2018.08.027⟩
Journal articles hal-01964955v1

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Stéphanie Debette , Yoichiro Kamatani , Tiina M Metso , Manja Kloss , Ganesh Chauhan , et al.
Nature Genetics, 2014, 47 (1), pp.78-83. ⟨10.1038/ng.3154⟩
Journal articles hal-01253336v1

Limb girdle muscular dystrophy due to mutations in POMT2

Sofie Thurø Østergaard , Katherine Johnson , Tanya Stojkovic , Thomas Krag , Willem de Ridder , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
Journal articles hal-03864445v1

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti , Alice Lepelley , Marine Depp , Andrew Badrock , Mathieu P Rodero , et al.
Nature Genetics, 2020, 52 (12), pp.1364-1372. ⟨10.1038/s41588-020-00737-3⟩
Journal articles hal-03367600v1

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne-Christine Merveille , Erica Davis , Anita Becker-Heck , Marie Legendre , Israel Amirav , et al.
Nature Genetics, 2011, 43 (1), pp.72-78. ⟨10.1038/ng.726⟩
Journal articles inserm-03894583v1
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Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Mélanie Annoussamy , Andreea M Seferian , Aurore Daron , Yann Péréon , Claude Cances , et al.
Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
Journal articles hal-03426396v1

Prevalence of amyloid‐β pathology in distinct variants of primary progressive aphasia

David Bergeron , Maria L Gorno-Tempini , Gil D Rabinovici , Miguel A Santos-Santos , William Seeley , et al.
Annals of Neurology, 2018, 84 (5), pp.729-740. ⟨10.1002/ana.25333⟩
Journal articles inserm-02749861v1