Results 261 to 270 of about 326,922 (335)

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks, Anna Wolska, Diala Ghazal, Dejan Jakimovski, Bianca Weinstock‐Guttman, Alexander Burnham, Niels Bergsland, Michael G. Dwyer, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +10 more
wiley   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

The Polybrominated Diphenyl Ether Bromoxib Disrupts Nuclear Import and Export by Affecting Nucleoporins of the Nuclear Pore Complex. [PDF]

Mar Drugs
Krings KS, Ritchie A, Schmitt L, Hatzfeld J, Totzke G, Lenz T, Mendiburo MJ, Stork B, Teusch N, Proksch P, Stühler K, Müller L, Wesselborg S.   +12 more
europepmc   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS. [PDF]

Acta Neuropathol Commun
Keeley O, Mendoza E, Menon D, Coyne AN.
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Identification of nuclear pore proteins at plasmodesmata

Frommer W, Schladt M, Miras M, Ejike J, Pottier M, Xi L, Restrepo-Escobar A, Nakamura M, Puetz N, Haensch S, chen.gao@hhu.de C, Engelhorn J, Dickmanns M, Davis G, Dalal A, Gombos S, Lange R, Simon R, Schulze W.   +18 more
europepmc   +1 more source

Advances in the understanding of nuclear pore complexes in human diseases. [PDF]

J Cancer Res Clin Oncol
Li Y, Zhu J, Zhai F, Kong L, Li H, Jin X.   +5 more
europepmc   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

TorsinA is essential for neuronal nuclear pore complex localization and maturation. [PDF]

Nat Cell Biol
Kim S, Phan S, Tran HT, Shaw TR, Shahmoradian SH, Ellisman MH, Veatch SL, Barmada SJ, Pappas SS, Dauer WT.   +9 more
europepmc   +1 more source