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F. Sabourdy · SciRah

Researcher profile · Semantic Scholar

F. Sabourdy

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F. Sabourdy — researcher profile on SciRah

h-index: 16
Works: 37
Citations: 987

Most-cited papers

Gene-expression profiling of systemic anaplastic large-cell lymphoma reveals differences based on ALK status and two distinct morphologic ALK+ subtypes.
L. Lamant, A. de Reyniès, Marie-Michèle Duplantier, D. Rickman +6 more
2007Blood211 citations
Semantic Scholar
Transcriptome analysis of Sinorhizobium meliloti during symbiosis
F. Ampe, E. Kiss, F. Sabourdy, J. Batut
2003Genome Biology138 citations Open access
Semantic Scholar
Chromatin-Bound MDM2 Regulates Serine Metabolism and Redox Homeostasis Independently of p53.
Romain Riscal, Emilie Schrepfer, G. Arena, Madi Y. Cissé +14 more
2016Molecules and Cells121 citations Open access
Semantic Scholar
Functions of sphingolipid metabolism in mammals--lessons from genetic defects.
F. Sabourdy, B. Kedjouar, S. Caroline Sorli, S. Colié +3 more
2008Biochimica et Biophysica Acta73 citations
Semantic Scholar
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
É. Lebigot, P. Gaignard, I. Dorboz, A. Slama +12 more
2017Molecular Genetics and Metabolism52 citations Open access
Semantic Scholar
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
F. Sabourdy, L. Mourey, Emmanuelle Le Trionnaire, N. Bednarek +14 more
2015Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Monogenic neurological disorders of sphingolipid metabolism.
F. Sabourdy, L. Astudillo, C. Colacios, Patricia Dubot +4 more
2015Biochimica et Biophysica Acta33 citations
Semantic Scholar
Human genetic disorders of sphingolipid biosynthesis
L. Astudillo, F. Sabourdy, N. Therville, H. Bode +4 more
2015Journal of Inherited Metabolic Disease33 citations
Semantic Scholar
Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.
Claudine Tardy, F. Sabourdy, V. Garcia, A. Jalanko +3 more
2009Biochimica et Biophysica Acta32 citations Open access
Semantic Scholar
Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and Hypotheses
Patricia Dubot, L. Astudillo, N. Therville, F. Sabourdy +3 more
2020Cancers23 citations Open access
Semantic Scholar
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
F. Sabourdy, P. Labauge, H. M. Stensland, M. Nieto +5 more
2009BMC Medical Genetics22 citations Open access
Semantic Scholar
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
P. Labauge, D. Renard, G. Castelnovo, F. Sabourdy +2 more
2009Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)22 citations
Semantic Scholar
Danon disease: Further clinical and molecular heterogeneity
F. Sabourdy, H. Michelakakis, A. Anastasakis, V. Garcia +8 more
2009Muscle and Nerve22 citations
Semantic Scholar
Label-free Quantitative Urinary Proteomics Identifies the Arginase Pathway as a New Player in Congenital Obstructive Nephropathy*
Chrystelle Lacroix, C. Caubet, Anne Gonzalez de Peredo, B. Breuil +14 more
2014Molecular & Cellular Proteomics21 citations Open access
Semantic Scholar
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
Ljerka Cvitanović-Šojat, R. G. Juraški, F. Sabourdy, A. Fensom +3 more
2011European journal of paediatric neurology19 citations
Semantic Scholar
Serpin A1 is overexpressed in ALK+ anaplastic large cell lymphoma and its expression correlates with extranodal dissemination
Marie-Michèle Duplantier, L. Lamant, F. Sabourdy, A. de Reyniès +2 more
2006Leukemia18 citations
Semantic Scholar
Neurocognitive profiles in MSUD school-age patients
Juliette Bouchereau, Julie Leduc-Leballeur, S. Pichard, A. Imbard +20 more
2017Journal of Inherited Metabolic Disease16 citations
Semantic Scholar
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
S. Cottinet, A. Bergemer-Fouquet, A. Toutain, F. Sabourdy +4 more
2011Journal of Inherited Metabolic Disease15 citations
Semantic Scholar
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation
Patricia Dubot, F. Sabourdy, G. Plat, C. Jubert +4 more
2019International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer
Patricia Dubot, L. Astudillo, N. Therville, L. Carrié +6 more
2022Cancers9 citations Open access
Semantic Scholar
Human genetic defects of sphingolipid synthesis
Patricia Dubot, F. Sabourdy, T. Levade
2024Journal of Inherited Metabolic Disease8 citations Open access
Semantic Scholar
GENE EXPRESSION PROFILING OF SYSTEMIC ANAPLASTIC LARGE CELL LYMPHOMA REVEALS DIFFERENCES DEPENDING ON ALK STATUS AND TWO DISTINCT MORPHOLOGICAL ALK SUBTYPES
L. Lamant, A. de Reyniès, Marie-Michèle Duplantier, David +7 more
20068 citations
Semantic Scholar
Basics of Sphingolipid Metabolism and Signalling
C. Colacios, F. Sabourdy, N. Andrieu-Abadie, B. Ségui +1 more
20156 citations
Semantic Scholar
Genetic disorders of simple sphingolipid metabolism.
V. Albinet, M. Bats, C. Bedia, F. Sabourdy +5 more
2013Handbook of Experimental Pharmacology6 citations
Semantic Scholar
Dietary Amino Acid Source Elicits Sex-Specific Metabolic Response to Diet-Induced NAFLD in Mice.
Clémence Rives, C. P. Martin, Lauris Evariste, A. Polizzi +17 more
2023Molecular Nutrition & Food Research5 citations Open access
Semantic Scholar
Is active acid sphingomyelinase required for the antiproliferative response to rituximab?
F. Sabourdy, J. Sèlves, L. Astudillo, C. Laurent +7 more
2011Blood5 citations
Semantic Scholar
Tumorigenic poxviruses: growth factors in a viral context?
F. Sabourdy, A. Casteignau, J. Gelfi, Séverine Deceroi +2 more
2004Journal of General Virology5 citations Open access
Semantic Scholar
Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses.
Patricia Dubot, F. Sabourdy, J. Rybova, J. Medin +1 more
2019Clinica chimica acta; international journal of clinical chemistry4 citations Open access
Semantic Scholar
Dyslipidemia: Are You Sure It Is Cholesterol?
Patricia Dubot, F. Sabourdy, Thibaut Jamme, Céline Verdier +3 more
2021Clinical Chemistry3 citations Open access
Semantic Scholar
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother
Patricia Dubot, L. Astudillo, G. Touati, J. Baruteau +4 more
2019JIMD Reports3 citations Open access
Semantic Scholar
[Hereditary peroxisomal diseases].
L. Astudillo, F. Sabourdy, G. Touati, T. Levade
2016Presse medicale3 citations
Semantic Scholar
A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.
Patricia Dubot, M. Rafiq, Jonathan Curot, M. Simonetta-Moreau +5 more
2021Parkinsonism & Related Disorders2 citations Open access
Semantic Scholar
Acrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour.
M. Regnault, C. Uthurriague, M. Bertrand, D. Vezzosi +6 more
2021Annales de dermatologie et de vénéréologie1 citations
Semantic Scholar
Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
P. Grillet, C. Marelli, Étienne Mondésert, Marie-Céline François-Heude +5 more
2026Molecular Genetics and Metabolism Reports0 citations Open access
Semantic Scholar
Iconography : Maladies peroxysomales
L. Astudillo, F. Sabourdy, G. Touati, T. Levade
20160 citations
Semantic Scholar
[Pulmonary embolism in young adults. Think of homocysteine].
A. Fakhry, I. Redonnet-Vernhet, F. Sabourdy, M. Elbaz +1 more
2014Annales de cardiologie et d'angeiologie0 citations
Semantic Scholar
Anaplastic lymphoma kinase and lymphoma: physiopathological and clinical features
E. Espinos, Marie-Michèle Duplantier, S. Giuriato, M. Allouche +3 more
20050 citations
Semantic Scholar

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