Results 111 to 120 of about 1,614,514 (332)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Synthetic Malaria Peptide Vaccine Elicits High Levels of Antibodies in Vaccinees of Defined HLA Genotypes [PDF]

, 2000
Elizabeth Nardin, Giane A. Oliveira, J. Mauricio Calvo‐Calle, Z Castro, R S Nussenzweig, Barbara J. Schmeckpeper, Bradford Hall, Carter L. Diggs, Sacared A Bodison, Robert Edelman   +9 more
openalex   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Methods for genomic evaluation of a relatively small genotyped dairy population and effect of genotyped cow information in multiparity analyses [PDF]

, 2014
Daniela Lourenço, I. Misztal, S. Tsuruta, Ignácio Aguilar, E. Ezra, M. Ron, Andrey Shirak, J.I. Weller   +7 more
openalex   +1 more source

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

Nature Biotechnology, 2019
Daehwan Kim, Joseph M. Paggi, Chanhee Park, C. Bennett, S. Salzberg   +4 more
semanticscholar   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Science, 2015
K. Ardlie, David S. DeLuca, A. Segrè, Timothy J. Sullivan, Taylor Young, Ellen T. Gelfand, Casandra A. Trowbridge, Julian B. Maller, T. Tukiainen, M. Lek, Lucas D. Ward, Pouya Kheradpour, Benjamin Iriarte, Yan Meng, Cameron D. Palmer, T. Esko, W. Winckler, J. Hirschhorn, M. Kellis, D. MacArthur, Gad Getz, A. A. Shabalin, Gen Li, Yi-Hui Zhou, A. Nobel, I. Rusyn, Fred A. Wright, Tuuli Lappalainen, Pedro G. Ferreira, H. Ongen, Manuel A. Rivas, Alexis Battle, Sara Mostafavi, Jean Monlong, M. Sammeth, Marta Melé, F. Reverter, Jakob M. Goldmann, Daphne Koller, R. Guigó, Mark I. McCarthy, E. Dermitzakis, E. Gamazon, Hae K. Im, A. Konkashbaev, Dan L. Nicolae, Nancy J. Cox, T. Flutre, Xiaoquan Wen, Matthew Stephens, Jonathan K. Pritchard, Zhidong Tu, Bin Zhang, Tao Huang, Quan Long, Luan Lin, Jialiang Yang, Jun Zhu, Jun S. Liu, A. Brown, Bernadette Mestichelli, D. Tidwell, E. Lo, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, John T. Lonsdale, M. T. Moser, Bryan M. Gillard, E. Karasik, Kimberly Ramsey, Christopher Choi, Barbara A. Foster, John Syron, Johnelle Fleming, Harold Magazine, Rick Hasz, Gary Walters, J. Bridge, Mark Miklos, Susan Sullivan, Laura K. Barker, H. Traino, M. Mosavel, L. Siminoff, Dana R. Valley, D. Rohrer, Scott D. Jewell, P. Branton, L. Sobin, M. Barcus, L. Qi, J. McLean, P. Hariharan, K. S. Um, Shenpei Wu, David E. Tabor, C. Shive, Anna M. Smith, Stephen A. Buia, Anita H. Undale, Karna L. Robinson, Nancy V. Roche, Kimberly M. Valentino, Angela Britton, R. Burges, Debra Bradbury, Kenneth W. Hambright, John Seleski, G. Korzeniewski, Kenyon Erickson, Yvonne Marcus, Jorge Tejada, Mehran Taherian, Chunrong Lu, Margaret J. Basile, Deborah C. Mash, Simona Volpi, Jeffery P. Struewing, Gary F. Temple, Joy T. Boyer, Deborah Colantuoni, Roger Little, S. Koester, Latarsha J. Carithers, Helen M. Moore, P. Guan, Carolyn C. Compton, Sherilyn J. Sawyer, J. Demchok, Jimmie B. Vaught, C. Rabiner, Lockhart   +132 more
semanticscholar   +1 more source

Genotype and phenotype of COVID-19: Their roles in pathogenesis

Journal of Microbiology, Immunology and Infection, 2020
Leila Mousavizadeh, S. Ghasemi
semanticscholar   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source