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authFullName_s : John Christodoulou

Measurement of Amyloid Fibril Length Distributions by Inclusion of Rotational Motion in Solution NMR Diffusion Measurements.

Andrew J Baldwin , Spencer J Anthony-Cahill , Tuomas P J Knowles , Guy Lippens , John Christodoulou et al.
Angewandte Chemie International Edition, 2008, epub ahead of print. ⟨10.1002/anie.200703915⟩
Journal articles istex hal-00273328v1

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Evangelos Andreakos , Laurent Abel , Donald Vinh , Elżbieta Kaja , Beth Drolet et al.
Nature Immunology, 2022, 23 (2), pp.159-164. ⟨10.1038/s41590-021-01030-z⟩
Journal articles hal-03558195v1
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Anne-Sophie Neyroud , Joëlle Rudinger-Thirion , Magali Frugier , Lisa G Riley , Maud Bidet et al.
European Journal of Human Genetics, 2022, ⟨10.1038/s41431-022-01252-1⟩
Journal articles hal-03888946v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921182v1
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The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Lisa Riley , Joëlle Rudinger‐thirion , Magali Frugier , Meredith Wilson , Melissa Luig et al.
Human Mutation, 2020, 41 (8), pp.1425-1434. ⟨10.1002/humu.24050⟩
Journal articles hal-02966089v1

Contribution of rotational diffusion to pulsed field gradient diffusion measurements.

Andrew J Baldwin , John Christodoulou , Paul D Barker , Christopher M Dobson , Guy Lippens et al.
Journal of Chemical Physics, 2007, 127 (11), pp.114505. ⟨10.1063/1.2759211⟩
Journal articles hal-00273334v1
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo S. van Der Knaap , Marianna Bugiani , Marisa Mendes , Lisa Riley , Desiree E.C. Smith et al.
Neurology, 2019, 92 (11), pp.e1225. ⟨10.1212/WNL.0000000000007098⟩
Journal articles hal-02294914v1

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Lisa Riley , Joëlle Rudinger-Thirion , Klaus Schmitz-Abe , David Thorburn , Ryan Davis et al.
JIMD Reports, Volume 28 pp 49-57, pp.49-57, 2015, ⟨10.1007/8904_2015_515⟩
Book sections hal-02294515v1

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Lisa G Riley , Sandra T. Cooper , Peter Hickey , Joëlle Rudinger-Thirion , Matthew Mckenzie et al.
American Journal of Human Genetics, 2010, 87 (1), pp.52-9. ⟨10.1016/j.ajhg.2010.06.001⟩
Journal articles hal-00530056v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921185v1
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The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Jérémy Manry , Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (21), pp.349-363. ⟨10.1073/pnas.2200413119⟩
Journal articles hal-03856619v2
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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Thuy-Linh Le , Yunia Sribudiani , Xiaomin Dong , Céline Huber , Chelsea Kois et al.
American Journal of Human Genetics, 2020, 106, pp.779 - 792. ⟨10.1016/j.ajhg.2020.04.010⟩
Journal articles hal-03490735v1