Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "LACOMBE, Didier"
Now showing items 1-7 of 7
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The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
LAVIE, Julie; LALOU, Claude; MAHFOUF, Walid ...(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)Article de revueOpen access -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
MAUHIN, Wladimir; TEBANI, Abdellah; AMELIN, Damien ...(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueOpen access -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
DENAMUR, Sophie; TOUATI, Guy; DEBELLEIX, Stephane ...(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueOpen access -
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
DE THONEL, Aurélie; AHLSKOG, Johanna K; DAUPIN, Kevin ...(Nature Communications. vol. 14, n° 1, pp. 6067, 2023-09-28)Article de revueOpen access -
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
COURTOIS, Sarah; ANGELINI, Chloe; DURAND, Christelle M. ...(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue -
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
ADAMO-CROUX, Marie; AUGER-GILLI, Adriane; GUYADER, Gwenaël Le ...(Archives de Pédiatrie. vol. 31, n° 5, pp. 320-325, 2024-07-01)Article de revue