Results 201 to 210 of about 214,671 (312)

Evolution of species' range and niche in changing environments. [PDF]

Proc Natl Acad Sci U S A
Polechová J.
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Predictions From Evolutionary Theory for Urban Environments. [PDF]

Evol Appl
MacPherson A, Caizergues AE, Savary P, Xu K, Messer PW, Akbar MN, Fortin MJ, Holt RD, Hoi AG, Mideo N, Ness R, Peres-Neto PR, Santangelo JS, Johnson MTJ.   +13 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Increased adaptive potential in novel environments can be predicted from genetic variance in development time expressed in native environments. [PDF]

Evol Lett
Walter GM, Monro K, Wilson A, Terranova D, la Spina E, Majorana M, Pepe G, du Plessis S, Clark J, Cozzolino S, Cristaudo A, Hiscock SJ, Bridle J.   +12 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

What sets the mutation rate of a cell type in an animal species? [PDF]

PLoS Biol
de Manuel M, Przeworski M, Spisak N, Stolyarova A.   +3 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Gene loss and compensatory evolution as a source of metabolic preadaptations. [PDF]

Mol Biol Evol
Kalapis D, Kovács K, Balogh D, Maharramov E, Ajibola W, Silander OK, Fehér T, Pál C, Papp B.   +8 more
europepmc   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz, Neha V. Safi, Iliana Pliska‐Bloch, Ulrike W. Kaunzner, Ha Luu, Mert Sisman, Yi Wang, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source