Results 61 to 70 of about 921,692 (329)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

A distinct plasmablast and naïve B-cell phenotype in primary immune thrombocytopenia

Haematologica, 2016
Primary immune thrombocytopenia is an autoimmune disorder in which platelet destruction is a consequence of both B- and T-cell dysregulation. Flow cytometry was used to further characterize the B- and T-cell compartments in a cross-sectional cohort of 26
Shaun M. Flint, Adele Gibson, Geoff Lucas, Raghava Nandigam, Louise Taylor, Drew Provan, Adrian C. Newland, Caroline O. Savage, Robert B. Henderson   +8 more
doaj   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

LPS-induced serum TNF production and lethality in mice: effect of L-carnitine and some acyl-derivatives

Mediators of Inflammation, 1993
The effect of L-carnitine and some of its acyl derivatives on serum TNF production and lethality in a murine experimental endotoxin shock model was investigated. In some instances, serum IL-6 production was also evaluated.
Vito Ruggiero, Claudio M. D'Urso, Claudio Albertoni, Silvia Campo, Piero Foresta, Edoardo Arrigoni Martelli   +5 more
doaj   +1 more source

A interação argumentativa no discurso literário: da literatura das ideias ao relato de ficção

Linha D'Água, 2016
A dimensão argumentativa do texto literário se expressa na capacidade de orientar a visão de seus leitores. A teoria de Perelman inscreve a interação argumentativa no discurso do orador e os trabalhos contemporâneos em Linguística Pragmática e em ...
Ruth Amossy
doaj   +1 more source

Tau here, tau there, tau almost everywhere: Clarifying the distribution of tau in the adult CNS

Cytoskeleton, 2023
AbstractThe microtubule‐associated protein tau has gained significant attention over the last several decades primarily due to its apparent role in the pathogenesis of several diseases, most notably Alzheimer's disease. While the field has focused largely on tau's potential contributions to disease mechanisms, comparably less work has focused on normal
openaire   +2 more sources

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Acceso a información científica libre sobre la enfermedad por coronavirus 2019 (COVID-19) en Pubmed y Tripdatabase Pro

Anales de la Facultad de Medicina, 2020
La enfermedad por coronavirus (COVID-19) producida por el reciente coronavirus del síndrome respiratorio agudo severo 2 (SARS-CoV-2), es catalogada como una emergencia de salud pública por sexta vez en la historia por la Organización Mundial de la Salud (
Shamir Barros-Sevillano, Dianilet Delgado-Gasco, Diego Vásquez-Vértiz, Joshuan Barboza-Meca   +3 more
doaj   +1 more source

Search for neutrinoless tau decays tau -> 3l and tau -> l K0S

, 2002
Neutrinoless tau-lepton decays into either three leptons (tau- -> l1- l2 l3) or one lepton and one K0S meson(tau- -> l- K0S) where lepton l means either an electron or muon, have been searched for using 48.6 fb^{-1} of data collected with the Belle ...
A. Yamaguchi, Abashian, Ahmad, Ahmad, Berends, Bliss, Borzumati, Brun, Chen, Cheng, Cvetic, Dedes, Ellis, Feldman, Fukuda, H. Hayashii, Hagiwara, Hayes, Hisano, Hisano, Hisano, Hisano, Ilakovac, Ilakovac, Jadach, Jadach, Jadach, Kim, Lee, Ma, Ma, Ma, Ma, Marciano, Masiero, T. Nagamine, Y. Yusa, Yue   +37 more
core   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative   +9 more
wiley   +1 more source