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Loss of Slc35a2 alters development of the mouse cerebral cortex.
Elziny S, Sran S, Yoon H, Corrigan RR, Page J, Ringland A, Lanier A, Lapidus S, Foreman J, Heinzen EL, Iffland P, Crino PB, Bedrosian TA. Elziny S, et al. Among authors: crino pb. Neurosci Lett. 2024 Jul 27;836:137881. doi: 10.1016/j.neulet.2024.137881. Epub 2024 Jun 22. Neurosci Lett. 2024. PMID: 38909838 Free article.
Loss of Slc35a2 alters development of the mouse cerebral cortex.
Elziny S, Sran S, Yoon H, Corrigan RR, Page J, Ringland A, Lanier A, Lapidus S, Foreman J, Heinzen EL, Iffland P, Crino PB, Bedrosian TA. Elziny S, et al. Among authors: crino pb. bioRxiv [Preprint]. 2023 Nov 30:2023.11.29.569243. doi: 10.1101/2023.11.29.569243. bioRxiv. 2023. Update in: Neurosci Lett. 2024 Jul 27;836:137881. doi: 10.1016/j.neulet.2024.137881 PMID: 38077069 Free PMC article. Updated. Preprint.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Among authors: crino pb. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: crino pb. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Mouse models of Slc35a2 brain mosaicism reveal mechanisms of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy.
Yoon H, Ringland A, Anderson JJ, Sran S, Elziny S, Huynh C, Shinagawa N, Badertscher S, Corrigan RR, Mashburn-Warren L, Amari F, Chen M, Coppola V, Crino PB, Bedrosian TA. Yoon H, et al. Among authors: crino pb. Epilepsia. 2024 Dec;65(12):3717-3731. doi: 10.1111/epi.18166. Epub 2024 Oct 26. Epilepsia. 2024. PMID: 39460689 Free PMC article.
KPTN-Related Disorder.
Rawlins LE, Crino PB, Iffland PH, Crosby AH, Baple EL. Rawlins LE, et al. Among authors: crino pb. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39083632 Free Books & Documents. Review.
150 results