Results 251 to 260 of about 2,657,458 (337)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

A Japanese LDA model for automatic clustering analysis of semantic verbal fluency tests. [PDF]

Behav Res Methods
Yoshihara M, Itaguchi Y.
europepmc   +1 more source

Relevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut, Romain Marignier, Mikael Cohen, Jeanne Benoit, Cassandre Landes‐Chateau, Elisabeth Maillart, Marion Cremoni, Barbara Seitz‐Polski, Anne‐Laurie Pinto, Pauline Dumez, Jérôme Honnorat, Christine Lebrun‐Frenay   +11 more
wiley   +1 more source

GAUDI: interpretable multi-omics integration with UMAP embeddings and density-based clustering. [PDF]

Nat Commun
Castellano-Escuder P, Zachman DK, Han K, Hirschey MD.   +3 more
europepmc   +1 more source

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing, Imis Dogan, Rena Theda Overbeck, Kathrin Reetz, Sandro Romanzetti   +4 more
wiley   +1 more source

Predicting diabetic peripheral neuropathy through advanced plantar pressure analysis: a machine learning approach. [PDF]

Sci Rep
Sheikh MM, Balachandra M, V G N, Maiya AG.   +3 more
europepmc   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova, Teresa Fazia, Giovanni Di Caprio, Davide Gentilini, Luisa Bernardinelli, Roberto Bergamaschi   +5 more
wiley   +1 more source

Enhanced intensity-based clustering of isomorphous multi-crystal data sets in the presence of subtle variations. [PDF]

Acta Crystallogr D Struct Biol
Thompson AJ, Beilsten-Edmands J, Tam C, Sanchez-Weatherby J, Sandy J, Mikolajek H, Axford D, Jaho S, Hough MA, Winter G.   +9 more
europepmc   +1 more source

High‐Efficacy Treatment in Neuromyelitis Optica Specturm Disorder Patients With Seropositive AQP4 Antibodies—A Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li, Binbin Xue, Jia Li, Dewei Xie, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Xu Zhang, Junhui Xia, Jie Lin   +10 more
wiley   +1 more source

Bayesian optimized parameter selection for density-based clustering applied to single molecule localization microscopy. [PDF]

Commun Biol
Hammer JL, Devanny AJ, Kaufman LJ.
europepmc   +1 more source