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94 results
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A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.
Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y. Carreau C, et al. Among authors: acquaviva c. Ann Clin Transl Neurol. 2020 Feb;7(2):250-253. doi: 10.1002/acn3.50977. Epub 2020 Feb 5. Ann Clin Transl Neurol. 2020. PMID: 32022482 Free PMC article.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: acquaviva c. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria. Mandrile G, et al. Among authors: acquaviva c. Pediatr Nephrol. 2022 Jun 13. doi: 10.1007/s00467-022-05613-2. Online ahead of print. Pediatr Nephrol. 2022. PMID: 35695965 Review.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. Among authors: acquaviva c. J Inherit Metab Dis. 2022 May 26. doi: 10.1002/jimd.12525. Online ahead of print. J Inherit Metab Dis. 2022. PMID: 35618652
Identification of Atypical Circulating Tumor Cells with Prognostic Value in Metastatic Breast Cancer Patients.
Lopresti A, Acquaviva C, Boudin L, Finetti P, Garnier S, Aulas A, Liberatoscioli ML, Cabaud O, Guille A, de Nonneville A, Da Costa Q, Denicolai E, Pakradouni J, Goncalves A, Birnbaum D, Bertucci F, Mamessier E. Lopresti A, et al. Among authors: acquaviva c. Cancers (Basel). 2022 Feb 13;14(4):932. doi: 10.3390/cancers14040932. Cancers (Basel). 2022. PMID: 35205679 Free PMC article.
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.
Metry EL, Garrelfs SF, Peters-Sengers H, Hulton SA, Acquaviva C, Bacchetta J, Beck BB, Collard L, Deschênes G, Franssen C, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, Oosterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW; OxalEurope Consortium. Metry EL, et al. Among authors: acquaviva c. Kidney Int Rep. 2021 Nov 26;7(2):210-220. doi: 10.1016/j.ekir.2021.11.006. eCollection 2022 Feb. Kidney Int Rep. 2021. PMID: 35155860 Free PMC article.
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Boutouchent N, Bourilhon J, Sudrié-Arnaud B, Bonnevalle A, Guyant-Maréchal L, Acquaviva C, Dujardin-Ippolito L, Bekri S, Dabaj I, Tebani A. Boutouchent N, et al. Among authors: acquaviva c. Diagnostics (Basel). 2021 Aug 28;11(9):1561. doi: 10.3390/diagnostics11091561. Diagnostics (Basel). 2021. PMID: 34573903 Free PMC article.
94 results