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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Among authors: harris cj. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Mirzaa GM, et al. Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29. Lancet Neurol. 2015. PMID: 26520804 Free PMC article.
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. Paciorkowski AR, et al. Among authors: harris cj. Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7. Neurogenetics. 2013. PMID: 23389741 Free PMC article.
Mode of administration influences plasma levels of active Centella asiatica compounds in 5xFAD mice while markers of neuroinflammation remain unaltered.
Speers AB, Wright KM, Brandes MS, Kedjejian N, Matthews DG, Caruso M, Harris CJ, Koike S, Nguyen T, Quinn JF, Soumyanath A, Gray NE. Speers AB, et al. Among authors: harris cj. Front Neurosci. 2024 Mar 25;18:1277626. doi: 10.3389/fnins.2024.1277626. eCollection 2024. Front Neurosci. 2024. PMID: 38591068 Free PMC article.
150 results