Results 91 to 100 of about 7,541,678 (261)

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D, Bost JE, Poster D, Mrug M, Grantham JJ, Chapman AB, Mullen W, Mischak H, Siwy J, Krauer F, Serra AL, Kistler AD, Bae KT, Torres VE, Wüthrich RP   +114 more
core   +2 more sources

Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease

Nature Communications
Kidney stone disease is a multifactorial disease with increasing incidence worldwide. Trans-ancestry GWAS has become a popular strategy to dissect genetic structure of complex traits.
Xi Cao, Minghui Jiang, Yunlong Guan, Si Li, Chen Duan, Yan Gong, Yifan Kong, Zhonghe Shao, Hongji Wu, Xiangyang Yao, Bo Li, Miao Wang, Hua Xu, Xingjie Hao   +13 more
doaj   +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

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Projections of the prevalence of treated end-stage kidney disease in Australia 2012-2020 [PDF]

, 2014
This paper presents national level projections of the number of people receiving kidney replacement therapy for end-stage kidney disease for the period 2012 to 2020.

core  

Autosomal Dominant Polycystic Kidney Disease Induced by Ciliary Defects

, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disease, which is caused by pathogenic mutations of either PKD1 (85%) or PKD2 (15%) genes, encoding for polycystin-1 (PC1) or polycystin-2 (PC2), respectively.

core   +1 more source

Cystatin C as a Multifaceted Biomarker in Kidney Disease and Its Role in Defining "Shrunken Pore Syndrome"

, 2017
Cystatin C, a basic nonglycosylated 13.3 kDa protein comprising a single polypeptide chain of 120 amino acid residues, is produced at a stable rate from a housekeeping gene in all nucleated cells and eliminated from the circulation by free filtration ...
Grubb, A.,, Lund University.
core   +2 more sources

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source