Publications by authors named "Mathilde Mairey"

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Metagenomic shotgun sequencing of blood to identify bacteria and viruses in leukemic febrile neutropenia.
Prakhar Vijayvargiya, Adeline Feri, Mathilde Mairey, Cécile Rouillon, Patricio R Jeraldo

PLoS One· June 2022

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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Jean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Mathilde Mairey

Brain· April 2022

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Pathogenic Variants in Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Ashraf Yahia, Liena E O Elsayed, Remi Valter, Ahlam A A Hamed, Inaam N Mohammed, Mathilde Mairey

Front Neurol· August 2021

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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão

Eur J Hum Genet· November 2017

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Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Mathilde Mairey

Neurobiol Aging· October 2017

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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey

Eur J Hum Genet· January 2016

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Mathilde Mairey

Brain· August 2015

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