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Page 1
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: grima n. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
McCann EP, Fifita JA, Grima N, Galper J, Mehta P, Freckleton SE, Zhang KY, Henden L, Hogan AL, Chan Moi Fat S, Wu SS, Jagaraj CJ, Berning BA, Williams KL, Twine NA, Bauer D, Piguet O, Hodges J, Kwok JBJ, Halliday GM, Kiernan MC, Atkin J, Rowe DB, Nicholson GA, Walker AK, Blair IP, Yang S. McCann EP, et al. Among authors: grima n. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):162-171. doi: 10.1136/jnnp-2019-321790. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690696
Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress.
Halloran M, Ragagnin AMG, Vidal M, Parakh S, Yang S, Heng B, Grima N, Shahheydari H, Soo KY, Blair I, Guillemin GJ, Sundaramoorthy V, Atkin JD. Halloran M, et al. Among authors: grima n. Cell Mol Life Sci. 2020 Oct;77(19):3859-3873. doi: 10.1007/s00018-019-03394-w. Epub 2019 Dec 4. Cell Mol Life Sci. 2020. PMID: 31802140 Free PMC article.
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling.
Muñoz SS, Engel M, Balez R, Do-Ha D, Cabral-da-Silva MC, Hernández D, Berg T, Fifita JA, Grima N, Yang S, Blair IP, Nicholson G, Cook AL, Hewitt AW, Pébay A, Ooi L. Muñoz SS, et al. Among authors: grima n. Cells. 2020 Sep 2;9(9):2018. doi: 10.3390/cells9092018. Cells. 2020. PMID: 32887382 Free PMC article.
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations.
Konopka A, Whelan DR, Jamali MS, Perri E, Shahheydari H, Toth RP, Parakh S, Robinson T, Cheong A, Mehta P, Vidal M, Ragagnin AMG, Khizhnyak I, Jagaraj CJ, Galper J, Grima N, Deva A, Shadfar S, Nicholson GA, Yang S, Cutts SM, Horejsi Z, Bell TDM, Walker AK, Blair IP, Atkin JD. Konopka A, et al. Among authors: grima n. Mol Neurodegener. 2020 Sep 9;15(1):51. doi: 10.1186/s13024-020-00386-4. Mol Neurodegener. 2020. PMID: 32907630 Free PMC article.
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
Rayner SL, Cheng F, Hogan AL, Grima N, Yang S, Ke YD, Au CG, Morsch M, De Luca A, Davidson JM, Molloy MP, Shi B, Ittner LM, Blair I, Chung RS, Lee A. Rayner SL, et al. Among authors: grima n. Hum Mol Genet. 2021 May 31;30(11):971-984. doi: 10.1093/hmg/ddab073. Hum Mol Genet. 2021. PMID: 33729478
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.
Hogan AL, Grima N, Fifita JA, McCann EP, Heng B, Fat SCM, Wu S, Maharjan R, Cain AK, Henden L, Rayner S, Tarr I, Zhang KY, Zhao Q, Zhang ZH, Wright A, Lee A, Morsch M, Yang S, Williams KL, Blair IP. Hogan AL, et al. Among authors: grima n. Neuropathol Appl Neurobiol. 2021 Dec;47(7):990-1003. doi: 10.1111/nan.12749. Epub 2021 Aug 2. Neuropathol Appl Neurobiol. 2021. PMID: 34288034
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.
Trist BG, Genoud S, Roudeau S, Rookyard A, Abdeen A, Cottam V, Hare DJ, White M, Altvater J, Fifita JA, Hogan A, Grima N, Blair IP, Kysenius K, Crouch PJ, Carmona A, Rufin Y, Claverol S, Van Malderen S, Falkenberg G, Paterson DJ, Smith B, Troakes C, Vance C, Shaw CE, Al-Sarraj S, Cordwell S, Halliday G, Ortega R, Double KL. Trist BG, et al. Among authors: grima n. Brain. 2022 Sep 14;145(9):3108-3130. doi: 10.1093/brain/awac165. Brain. 2022. PMID: 35512359 Free PMC article.
59 results