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Page 1
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: menendez b. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: menendez b. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. PMID: 37333224 Free PMC article. Preprint.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: menendez b. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort.
Grasa CD, Fernández-Cooke E, Domínguez-Rodríguez S, Aracil-Santos J, Barrios Tascon A, Sánchez-Manubens J, Mercader B, Antón J, Nuñez E, Villalobos E, Bustillo M, Camacho M, Oltra Benavent M, Giralt G, Bello Naranjo AM, Rocandio B, Calvo C; Spanish group for the study of Kawasaki Disease (KAWA-RACE). Grasa CD, et al. Clin Rheumatol. 2022 Dec;41(12):3759-3768. doi: 10.1007/s10067-022-06319-4. Epub 2022 Aug 8. Clin Rheumatol. 2022. PMID: 35939163
Quantification of plasmid copy number as surrogate marker of virulence among different invasive and non-invasive genotypes of Chlamydia trachomatis.
López-Pintor JM, Martínez-García L, Maruri A, Menéndez B, Puerta T, Rodríguez C, González-Alba JM, Rodríguez-Domínguez M, Galán JC. López-Pintor JM, et al. Among authors: menendez b. Diagn Microbiol Infect Dis. 2022 Apr;102(4):115610. doi: 10.1016/j.diagmicrobio.2021.115610. Epub 2021 Nov 28. Diagn Microbiol Infect Dis. 2022. PMID: 35045381
Neisseria gonorrhoeae antimicrobial resistance in Spain: a prospective multicentre study.
Salmerón P, Viñado B, Arando M, Alcoceba E, Romero B, Menéndez B, Bernal S, Idigoras P, Colomina J, Martin-Saco G, Leal-Negredo Á, Torreblanca A, Martínez O, Serra-Pladevall J. Salmerón P, et al. Among authors: menendez b. J Antimicrob Chemother. 2021 May 12;76(6):1523-1531. doi: 10.1093/jac/dkab037. J Antimicrob Chemother. 2021. PMID: 33569588
Validation of shunt dependency prediction scores after aneurysmal spontaneous subarachnoid hemorrhage.
García-Armengol R, Puyalto de Pablo P, Misis M, Rodríguez-Hernández A, Julián JF, Pérez-Balaguero AC, Brugada-Bellsolà F, Menendez B, Cuadras P, Rimbau J. García-Armengol R, et al. Among authors: menendez b. Acta Neurochir (Wien). 2021 Mar;163(3):743-751. doi: 10.1007/s00701-020-04688-w. Epub 2021 Jan 3. Acta Neurochir (Wien). 2021. PMID: 33389122
40 results