Results 341 to 350 of about 2,684,722 (398)

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 deep investigation of the poorly studied open cluster King 18 using CCD VRI, Gaia DR3 and 2MASS. [PDF]

Sci Rep
Ahmed NM, Bendary R, Samir RM, Elhosseiny EG.   +3 more
europepmc   +1 more source

The Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked potentials (EPs) and event‐related potentials (ERPs) are helpful, but some limitations prevent their consistent use in the ...
Letizia Clementi, Francesca Giulia Magnani, Filippo Barbadoro, Camilla Ippoliti, Martina Cacciatore, Davide Sattin, Valeria Pingue, Benedetta Cazzulani, Jorge Navarro, Elena Schiaffi, Laura Grigoletti, Cristina Rosazza, Anna Nigri, Matilde Leonardi, Davide Rossi Sebastiano   +14 more
wiley   +1 more source

Shade Tree Selection in Cocoa Agroforestry: Ghanaian Farmers' Preferences, Ecological Insight and Drivers of Local Ecological Knowledge. [PDF]

Ecol Evol
Asigbaase M, Ndego SB, Effah B.
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

Longitudinal transcriptomic and epigenetic analysis of the blood in two astronauts. [PDF]

Sci Rep
Ao X, Parisien M, Cata JP, Montagna F, Vigouroux M, Oliveira Fernandes de Araujo L, Karaky M, Ingelmo P, Diatchenko L.   +8 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

Protocol to recover single-cell gene expression profiles from spatial transcriptomics data using cluster computing. [PDF]

STAR Protoc
Lee YJ, Chen H, Lugo-Martinez J.
europepmc   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Fast analysis of Spatial Transcriptomics (FaST): an ultra lightweight and fast pipeline for the analysis of high resolution spatial transcriptomics. [PDF]

NAR Genom Bioinform
Fulci V.
europepmc   +1 more source