Results 221 to 230 of about 7,457,933 (340)

A scoping review of the development of genetic counseling practices in Asia. [PDF]

J Genet Couns
Lim TQ, Dive L, McEwen A.
europepmc   +1 more source

Active Seizures Predict Worse Instrumental Activities of Daily Living in Individuals With Normal Cognition and Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Cognitive disorders are common in older persons with seizures (PWS). Cognitive disorders are often associated with impaired Instrumental Activities of Daily Living (IADLs). However, the effects of seizures on IADLs remain unexplored.
Ifrah Zawar, Jaideep Kapur, Meghan M. Mattos, Carol Manning, Syeda Amrah Hashmi, Mark Quigg   +5 more
wiley   +1 more source

Genetic diversity, population structure and quality-trait associations in Blumea balsamifera revealed by EST-SSR markers. [PDF]

PLoS One
Huang M, Li X, Chen Z, Wang D, Wang K, Hu X, Chen X, Guan L, Zhang H, Pang Y, Yu F.   +10 more
europepmc   +1 more source

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

How to fight against cancer in the amazon: ideas and perspectives from the oncology 2025. [PDF]

Lancet Reg Health Am
Assumpção P, Pucu E.
europepmc   +1 more source

Populations

Restoration Ecology, 2012
Johan van de Koppel, Arjen Biere, Jelte van Andel   +2 more
openaire   +4 more sources

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

Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa. [PDF]

Br J Dermatol
Broadaway KA, Sun Q, Edmiston SN, Currin KW, Vadlamudi S, Miller-Fleming TW, Shi Y, Fajgenbaum K, Melendez-Gonzalez M, Bui H, Blum FR, Westerkam L, Shams R, Mallela T, Levitt B, Lin L, Hao H, Memili A, Straub P, Zhou W, Harris KM, Martin A, Cox NJ, Liu Z, Thomas NE, Li Y, Mohlke KL, Sayed CJ.   +27 more
europepmc   +1 more source

The MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo, Kilian Hett, Amy Cooper, Amy E. Brown, Jessica Iregui, Manus J. Donahue, M. Erik Landman, Italo Biaggioni, Margaret Bradbury, Cynthia Wong, David Stamler, Daniel O. Claassen   +11 more
wiley   +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