Results 61 to 70 of about 201,352 (177)
Cognitive, Motor and Oculomotor Contributions to the Trail Making Test in Progressive Supranuclear Palsy
Movement Disorders Clinical Practice, EarlyView.Abstract Background
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by motor, oculomotor and cognitive impairments. Yet disentangling cognitive deficits from motor and oculomotor dysfunction remains a diagnostic and methodological challenge.Indira Garcia‐Cordero, Mohsen Hadian, Juan Camilo Vargas‐Gonzalez, Marta Monteiro, David Gold, Abeer Khoja, Alonso Morales‐Rivero, Blas Couto, David Tang‐Wai, Susan Fox, Gabor G. Kovacs, Anthony E. Lang, Maria Carmela Tartaglia +12 morewiley +1 more sourceLewy Body Disease Across Aging: Clinical and Neuropathological Correlates in a Population Brain Bank
Movement Disorders, EarlyView.Abstract Background
Lewy body disease (LBD) is defined by neuronal α‐synuclein pathology, but how Braak‐staged LBD relates to mixed neuropathology and clinical manifestations within a single population‐based cohort remains incompletely characterized. This is especially relevant in cohorts enriched for younger individuals, which may better inform real ...Vitor Ribeiro Paes, Felipe Luiz Pereira, Caroline Matos Silva, Filipe Oto Cunha de Moraes, Inês Liguori Padrão, Alberto Fernando Oliveira Justo, Roberta Diehl Rodriguez, Michel Satya Naslavsky, Renata Elaine Paraizo Leite, Carlos Augusto Gonçalves Pasqualucci, Mayana Zatz, Eduardo Ferriolli, Claudia Kimie Suemoto, Lea Tenenholz Grinberg +13 morewiley +1 more sourceChromosome 9 ALS and FTD locus is probably derived from a single founder. [PDF]
, 2012 We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations.Shatunov, A., Rollinson, PS, DeJesus-Hernandez, M, Pentti J. Tienari, Boxer, A.L., Hardy, J, Laaksovirta, H., Morrison, Karen E., Hardy, J., Aleksey Shatunov, John C. van Swieten, Rademakers, R, Restagno, Gabriella, Boeve, B.F., Bryan J. Traynor, Rollinson, Pamela Sara, Karen E. Morrison, Al-Chalabi, A., Ian R. Mackenzie, Morris, Huw Rees, Traynor, BJ, Mariely DeJesus-Hernandez, Jesus-Hernandez, M., Mackenzie, I.R., Morrison, KE, Orrell, R.W., Pamela Sara Rollinson, Mackenzie, Ian R., Simón-Sánchez, J, Nalls, MA, van Swieten, J.C., Waite, Adrian, Javier Simón-Sánchez, Tienari, P.J., Boeve, Bradley F., Morrison, Karen, Nalls, Michael A., Restagno, G, Myllykangas, L, Boxer, Adam L., Waite, Adrian James, Ammar Al-Chalabi, Waite, A, Mora, G, Heutink, P, Boeve, BF, Traynor, Bryan J., Waite, A., Adam L. Boxer, Shatunov, Aleksey, Rosa Rademakers, DeJesus-Hernandez, Mariely, Mackenzie, IR, Nigel Williams, Pickering-Brown, S, Hannu Laaksovirta, Chiò, A, Schymick, J., Williams, N, Simón-Sánchez, Javier, Laaksovirta, Hannu, Mok, K, Laaksovirta, H, Adrian Waite, Shaw, Pamela J., Pickering-Brown, Stuart, Rademakers, Rosa, Heutink, Peter, Mok, K., van Swieten, JC, Tienari, PJ, Liisa Myllykangas, Peuralinna, T, Heutink, P., Rollinson, P.S., Morris, HR, Hardy, John, Schymick, J, Shatunov, A, John Hardy, Simon-Sanchez, J., Huw R. Morris, Gabriele Mora, Morris, H.R., Peuralinna, T., Rademakers, R., Morrison, K.E., Mora, G., Pickering-Brown, S., Peuralinna, Terhi, Chio', Adriano, Peter Heutink, Richard W. Orrell, Chio, A., Terhi Peuralinna, Morrison, Karen E.; id_orcid, Myllykangas, Liisa, Williams, Nigel, Bradley F. Boeve, Gabriella Restagno, Pamela J. Shaw, Orrell, RW, Traynor, B.J., Shatunov, Aleksey; id_orcid, Kin Mok, Nalls, M.A., Al-Chalabi, Ammar, Williams, N., Boxer, AL, Shaw, P.J., Myllykangas, L., Mok, Kin, Mora, Gabriele, Orrell, Richard W., Tienari, Pentti J., Adriano Chiò, Schymick, Jennifer, Morris, Huw R., Shaw, PJ, Williams, Nigel Melville, Al-Chalabi, A, Chiò, Adriano, Restagno, G., van Swieten, John C., Michael A. Nalls, Stuart Pickering-Brown, Jennifer Schymick +126 morecore +1 more sourceAberrant activation of non-coding RNA targets of transcriptional elongation complexes contributes to TDP-43 toxicity
Nature Communications, 2018 TDP-43 is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions (FTD-TDP). Here, the authors identify the transcriptional elongation factor Ell as a strong modifier of TDP-43-mediated ...Chia-Yu Chung, Amit Berson, Jason R. Kennerdell, Ashley Sartoris, Travis Unger, Sílvia Porta, Hyung-Jun Kim, Edwin R. Smith, Ali Shilatifard, Vivianna Van Deerlin, Virginia M.-Y. Lee, Alice Chen-Plotkin, Nancy M. Bonini +12 moredoaj +1 more sourceBidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration
Acta Neuropathologica Communications, 2017 An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates and Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs +9 moredoaj +1 more sourceArtificial intelligence–based 3D segmentation of tangle‐associated TDP‐43 in neurodegeneration
Brain Pathology, EarlyView.Multiplex immunostaining of anti‐phosphorylated TDP‐43, tau (AT8, pS396, TauC3, MN423, GT38), and Thioflavin S combined with AI‐based object recognition, reconstruction, and TAT maturation analysis pipeline in limbic regions revealed that distinct aggregation and tangle maturation patterns underscored region‐specific dynamics in the neurodegenerative ...Gokhan Uruk, Hossam Youssef, Rodolfo G. Gatto, Nadia Hossain, Jennifer L. Whitwell, Robert R. Reichard, Keith A. Josephs +6 morewiley +1 more sourceApraxia in progressive nonfluent aphasia [PDF]
, 2010 The clinical and neuroanatomical correlates of specific apraxias in neurodegenerative disease are not well understood. Here we addressed this issue in progressive nonfluent aphasia (PNFA), a canonical subtype of frontotemporal lobar degeneration that has Rohrer, J.D., Rossor, M.N., Warren, J.D.core Frontotemporal lobar degeneration
, 2023 : Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset dementia and presents with early social-emotional-behavioural and/or language changes that can be accompanied by a pyramidal or extrapyramidal motor disorder ...Piguet, Olivier, Rademakers, Rosa, Ljubenov, Peter A., Grossman, Murray, van Swieten, John C., Hillis, Argye E., Knopman, David S., Zetterberg, Henrik, Boxer, Adam L., Whitwell, Jennifer L., Seeley, William W., Miller, Bruce +11 morecore C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]
, 2014 An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...Ridler, CE, Pickering-Brown, Stuart, Norona, FE, Woollacott, I., Fratta, P., Norona, Frances E, Woollacott, IOC, Ridler, Charlotte E, Devoy, A, Pietrzyk, J, Fisher, EMC, Devoy, Anny, Dols, J, Dols, Jacqueline, Moens, T., Cleverley, K., Fratta, Pietro, Partridge, Linda, Nicoll, Andrew J, Fisher, E., Ridler, C., Fratta, P, Grönke, S., Pickering-Brown, S., Isaacs, Adrian M, Cabecinha, Melissa, Mizielinska, S, Moens, Thomas, Clayton, E., Partridge, L., Pietrzyk, J., Clayton, Emma L, Mizielinska, Sarah, Niccoli, T., Devoy, Anny; id_orcid, Mizielinska, Sarah; id_orcid, Isaacs, A., Woollacott, Ione O C, Cleverley, Karen, Nicoll, AJ, Hendrich, O., Moens, T, Dols, J., Grönke, Sebastian, Cabecinha, M., Cabecinha, M, Fisher, Elizabeth M C, Mizielinska, S., Clayton, EL, Nicoll, A., Hendrich, Oliver, Grönke, S, Niccoli, Teresa, Pietrzyk, Julian, Devoy, A., Norona, F., Isaacs, AM, Pickering-Brown, S, Cleverley, K, Hendrich, O, Niccoli, T, Partridge, L +61 morecore +1 more source
