Results 171 to 180 of about 410,461 (311)

Protein structure prediction from the complementary science perspective. [PDF]

Biophys Rev, 2023
Vila JA.
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Starting at Go: Protein structure prediction succumbs to machine learning. [PDF]

Proc Natl Acad Sci U S A, 2023
Rothman JE.
europepmc   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

An automated pipeline integrating AlphaFold 2 and MODELLER for protein structure prediction. [PDF]

Comput Struct Biotechnol J, 2023
Gil Zuluaga FH, D'Arminio N, Bardozzo F, Tagliaferri R, Marabotti A.   +4 more
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

HighRes_Builder: improved access and modeling of noncanonical residues for protein structure prediction. [PDF]

Brief Bioinform
Han Y, Mei J, Li G, Dai E, Lu H, Zhang C, Zhang Y, Lin C, Zeng C, Duan H, Wang X.   +10 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

Molecular modelling and Function Prediction of hABH7, human homologue of _E. coli_ ALKB7

, 2011
Human homologues of ALKB protein have shown the prime role in DNA damaging drugs, used for cancer therapy. Little is known about structure and function of hABH7, one of the members of this superfamily. Therefore, in the present study we intend to predict
Mr. Shankaracharya, Ambarish Sharan Vidyarthi, Saibal Das   +2 more
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