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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: nicole s. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: nicole s. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
Predicting Factors of Plasma HIV RNA Undetectability after Switching to Co-Formulated Bictegravir, Emtricitabine, and Tenofovir Alafenamide in Experienced HIV-1 Patients: A Multicenter Study.
Basso M, Battagin G, Nicolè S, Rossi MC, Colombo F, Pirola N, Baratti S, Storato S, Giovagnorio F, Malagnino V, Alessio G, Vinci A, Maurici M, Sarmati L, Parisi SG. Basso M, et al. Among authors: nicole s. Viruses. 2023 Aug 12;15(8):1727. doi: 10.3390/v15081727. Viruses. 2023. PMID: 37632071 Free PMC article.
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M. Lopez-Herdoiza MB, et al. Among authors: nicole s. Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37138765 Free PMC article.
Large-scale survey for canine vector-borne parasites in free-ranging dogs and foxes from six diverse bioclimatic regions of Chile.
Sophia DC, Aitor C, Claudia UC, Javier C, Delia G, Valeria G, Ezequiel HH, Maria Stefania L, Constanza N, Irene S, Nicole SP, Juliana V, Gerardo AJ, Domenico V, Domenico O, Javier M. Sophia DC, et al. Among authors: nicole sp. Vet Parasitol Reg Stud Reports. 2022 May;30:100721. doi: 10.1016/j.vprsr.2022.100721. Epub 2022 Mar 24. Vet Parasitol Reg Stud Reports. 2022. PMID: 35431077
A prospective observational study for justification, safety, and efficacy of a third dose of mRNA vaccine in patients receiving maintenance hemodialysis.
Espi M, Charmetant X, Barba T, Mathieu C, Pelletier C, Koppe L, Chalencon E, Kalbacher E, Mathias V, Ovize A, Cart-Tanneur E, Bouz C, Pellegrina L, Morelon E, Juillard L, Fouque D, Couchoud C, Thaunat O; REIN Registry. Espi M, et al. Kidney Int. 2022 Feb;101(2):390-402. doi: 10.1016/j.kint.2021.10.040. Epub 2021 Nov 29. Kidney Int. 2022. PMID: 34856313 Free PMC article.
94 results