Augmentation de la sphingosine-1-phosphate chez les patients atteints de maladie de Fabry avec phénotype non classique
W Mauhin , A Tebani , D Amelin , L Abily-Donval
La Revue de Médecine Interne 43 A105 -A106
2022
Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Diagnostics 2021; 11: 1561
N Boutouchent , J Bourilhon , B Sudrié-Arnaud , A Bonnevalle
Genetic Testing for Rare Diseases 35 -35
1
2021
Alteration of plasma phospholipids distinguish schizophrenic patients from controls: A targeted metabolomics study
M Naifar , A Tebani , F Ducatez , C Pilon
European Psychiatry 66 ( S1) S615 -S615
2023
An Atypical Case of Congenital Erythropoietic Porphyria. Genes 2021, 12, 1828
B Sudrié-Arnaud , M Legendre , S Snanoudj , F Pelluard
s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affil-iations.
2021
Identification by a multi-omic approach of new biomarkers indicative of a constitutional defect in the TP53 and BRCA tumor suppressor genes
S Raad , A Tebani , R Lanos , E Kasper
EUROPEAN JOURNAL OF HUMAN GENETICS 27 410 -411
2019
O., Adiels M., Turkez H., Taskinen M
C Zhang , E Bjornson , M Arif , A Tebani
R., Bosley J., Marschall H.‐U., Nielsen J., Uhlén M., Borén J., Mardinoglu A., Mol. Syst. Biol 16 e9495 -e9495
2
2020
Juszczak K, Kim W, Kim JT, Bidkhori G, Stahlman M, Bergh PO, Adiels M, Turkez H, 1782 Taskinen MR, Bosley J, Marschall HU, Nielsen J, Uhlen M, Boren J, and Mardinoglu A. 1783 The acute effect of metabolic cofactor supplementation: a potential therapeutic strategy 1784 against non-alcoholic fatty liver disease
C Zhang , E Bjornson , M Arif , A Tebani
Mol Syst Biol 16 ( e9495) 1785 -1785
2
2020
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Diagnostics 2021, 11, 1561
N Boutouchent , J Bourilhon , B Sudrié-Arnaud , A Bonnevalle
Genetic Testing for Rare Diseases 35 -35
1
2021
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.
Ivana Dabaj , Ferey Justine , Marguet Florent , Gilard Vianney
Scientific Reports 11 ( 1) 1906 -1906
2021
Heterogeneous Clinical Scenario in a Consanguineous Family of Malonic Aciduria
Sarah Snanoudj , Stephanie Torre , Bénédicte Sudrié-Arnaud , Lenaig Abily-Donval
International Journal of Molecular Sciences
2
2021
Supplementary material for
Abdellah TEBANI , Isabelle SCHMITZ-AFONSO , Lenaig ABILY-DONVAL , Bénédicte HERON
CCA
2017
MOBN: an interactive database of multi-omics biological networks
Mathias Uhlen , Adil Mardinoglu , Adil Mardinoglu , Linn Fagerberg
bioRxiv 662502
2
2019
[A simple approach to create a common language, a necessary element for the development of a quality culture in a medical biology laboratory].
Abdellah Tebani , Benedicte Sudrié-Arnaud , Soumeya Bekri , Sarah Snanoudj-Verber
Annales De Biologie Clinique 79 ( 1) 83 -87
2021
Inflammation and Apolipoproteins Are Potential Biomarkers for Stratification of Cutaneous Melanoma Patients for Immunotherapy and Targeted Therapy.
Fredrik Edfors , Mathias Uhlén , Veronica Höiom , Linn Fagerberg
Cancer Research 81 ( 9) 2545 -2555
2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
Isabelle Marie , Stéphane Marret , Bénédicte Héron , Lenaig Abily-Donval
Diagnostics (Basel, Switzerland) 11 ( 2) 294
2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
Pascale Saugier-Veber , Stéphane Marret , Anne-Marie Guerrot , Kimiyo Raymond
Life 11 ( 3) 187
2021
Diagnosis and Management of Glioblastoma: A Comprehensive Perspective.
Annie Laquerrière , Annie Laquerrière , Stéphane Marret , Vianney Gilard
Journal of Personalized Medicine 11 ( 4) 258
19
2021
Large-scale screening of lipase acid deficiency in at risk population.
Abdellah Tebani , Bénédicte Sudrié-Arnaud , Hela Boudabous , Anais Brassier
Clinica Chimica Acta 519 64 -69
2021
iNetModels 2.0: an interactive visualization and database of multi-omics data.
Adil Mardinoglu , Adil Mardinoglu , Linn Fagerberg , Leroy Hood
Nucleic Acids Research
2021
An Unusual Peak in a Common Clinical Presentation.
Abdellah Tebani , Ivana Dabaj , Bénédicte Sudrié-Arnaud , Apolline Imbard
Clinical Chemistry 67 ( 5) 799 -801
2021