Results 131 to 140 of about 63,568 (308)

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

GATA2 at 14: genotype-phenotype correlations

Haematologica
GATA2 mutations cause adult-onset bone-marrow failure characterized by cytopenias, infections and increased risk of myeloid malignancy. We reviewed hospital records and referrals of 232 GATA2 mutated individuals from 122 families to gather hematopoietic and syndromic features.
Amy P, Hsu, Subrata, Paul, Jennifer L, Kwan, Philip L F, Johnson, Justin, Lack, Eva P, Szymanski, Jana, Lovell, Ladan, Foruraghi, Cindy, Palmer, Christa S, Zerbe, Janine R, Daub, Joie, Davis, Dennis D, Hickstein, Katherine R, Calvo, Steven M, Holland   +14 more
openaire   +2 more sources

Analysis of Verticillium dahliae Suggests a Lack of Correlation Between Genotypic Diversity and Virulence Phenotypes

, 2011
Verticillium dahliae causes severe wilt and recurring losses in numerous agricultural and ornamental hosts worldwide. Two virulence phenotypes (races) have been identified based on the Ve resistance gene and its homologs but their distribution and ...
Zahi K. Atallah, Gary E. Vallad, Karunakaran Maruthachalam, Krishna V. Subbarao, Steven J. Klosterman, R. Michael Davis   +5 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Desempenho agronômico e variabilidade genética em genótipos de couve Agronomic performance and genetic variability in kale genotypes

Pesquisa Agropecuária Brasileira, 2012
O objetivo deste trabalho foi avaliar o desempenho agronômico de acessos de couve e estimar os parâmetros genéticos e a correlação entre características de interesse para o melhoramento. O experimento foi realizado em delineamento de blocos ao acaso, com
Alcinei Mistico Azevedo, Valter Carvalho de Andrade Júnior, Carlos Enrrik Pedrosa, José Sebastião Cunha Fernandes, Nermy Ribeiro Valadares, Marcos Aurélio Miranda Ferreira, Rafael Augusto do Valle Martins   +6 more
doaj  

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Citron watermelon characterisation and trait analysis in Kalahari sands

Journal of Underutilised Crops Research
Background: Citron watermelon, a drought-tolerant and nutrient-dense crop requiring low input, holds potential for enhancing food security under climate change conditions. However, it remains under-researched, with low productivity levels.
Lenon Tembo, Mcebisi Maphosa
doaj   +1 more source

Isolation of Acanthamoeba isolates belonging to T2, T3, T4 and T7 genotypes from environmental samples in Ankara, Turkey

, 2004
Acanthamoeba keratitis is a blinding infection that is becoming increasingly important in human health. Early diagnosis is a prerequisite for successful treatment and requires identification of Acanthamoeba at the genotypic level.
Khan, Naveed Ahmed, Sissons, J., Tanyuksel, M., Kiliç, A., Jayasekera, S.   +4 more
core  

Correlation of the Virological Response to Short-Term Maraviroc Monotherapy with Standard and Deep-Sequencing-Based Genotypic Tropism Prediction Methods

, 2012
Genotypic tropism testing methods are emerging as the first step before prescription of the CCR5 antagonist maraviroc (MVC) to HIV-infected patients in Europe.
R. A. McGovern, M. A. Abad, M. Leal, P. R. Harrigan, M. Genebat, A. Gonzalez-Serna, A. F. Y. Poon, F. Vidal, S. Ferrando-Martinez, E. Ruiz-Mateos   +9 more
core   +1 more source