Results 191 to 200 of about 540,367 (350)

Clade distillation for genome-wide association studies. [PDF]

Genetics
Christ R, Wang X, Aslett LJM, Steinsaltz D, Hall I.   +4 more
europepmc   +1 more source

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

The power of genetics in decoding Sjögren's disease: current status and future development. [PDF]

Curr Opin Immunol
Radziszewski M, Tessneer KL, Lessard CJ.
europepmc   +1 more source

Population genetics characteristics of a 90 locus panel of microhaplotypes

, 2021
A.J. Pakstis, Neeru Gandotra, William C. Speed, Michael T. Murtha, Curt Scharfe, Kenneth K. Kídd   +5 more
openalex   +2 more sources

Genetic mapping of the bd locus

Fungal Genetics Reports, 1998
M T Lewis, J F FELDMAN
openaire   +2 more sources

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 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

Additional file 2: Table S2. of Genetics and mapping of a new anthracnose resistance locus in Andean common bean Paloma

, 2017
Sandra De Lima Castro, Maria Celeste Gonçalves‐Vidigal, Thiago Alexandre Santana Gílio, Giselly Figueiredo Lacanallo, Giseli Valentini, Vanusa da Silva Ramos Martins, Qijian Song, Marta Zulema Galván, Oscar P. Hurtado‐Gonzales, M. A. Pastor‐Corrales   +9 more
openalex   +1 more source

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes [PDF]

, 2011
Eugénie Mutez, Frédéric Leprêtre, Émilie Le Rhun, Lydie Larvor, Aurélie Duflot, Vincent Mouroux, Jean‐Pierre Kerckaert, Martin Figeac, Kathy Dujardin, A. Destée, Marie‐Christine Chartier‐Harlin   +10 more
openalex   +1 more source