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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.
Journal articles
istex
hal-00273328v1
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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.
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.
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.
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.
Journal articles
hal-02966089v1
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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 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.
Journal articles
hal-02294914v1
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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.
Book sections
hal-02294515v1
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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.
Journal articles
hal-02118688v1
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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.
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.
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.
Journal articles
hal-03490735v1
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