Results 121 to 130 of about 782,377 (268)

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

A Novel Cooperative Behavior Assay in Rats Reveals Distinct Social Coordination Strategies of Increasing Complexity and Social Reciprocity Deficits in a Model of Fragile X Syndrome. [PDF]

J Neurosci
Shukla A, Rivera EL, Bladon JH, Jadhav SP.   +3 more
europepmc   +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

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Mating type and genotyping of <i>Candida albicans</i> isolated from different samples. [PDF]

Iran J Microbiol
Karimpour A, Gharaghani M, Hardani AK, Jafarian H, Mahmoudabadi AZ.   +4 more
europepmc   +1 more source

The Hypertensive Genotype

Scandinavian Journal of Primary Health Care, 1984
openaire   +2 more sources

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Association Between MTHFR Gene Polymorphisms and Subclinical Hypothyroidism in Early Pregnancy: A Retrospective Case-Control Study. [PDF]

Int J Womens Health
Liu L, Wang C, Chen X, Zhu Y, Jiao J, Li L, Huang C.   +6 more
europepmc   +1 more source

Effect of Implementing a Dashboard With or Without a Best Practice Alert on HLA‐B*58:01 Testing Rates Among Allopurinol Users at VA Medical Centers

Arthritis Care &Research, EarlyView.
Objective The American College of Rheumatology recommends HLA‐B*58:01 allele testing before the initiation of allopurinol, specifically among Asian and African American/Black patients, due to their increased risk for severe hypersensitivity reactions. However, testing rates remain low at many health care facilities.
Abimbola Fadairo‐Azinge, Gabriela Schmajuk, Sristi Sharma, Colleen P. Flanagan, Sara Faghihi‐Kashani, Ning Zhang, Mary A. Whooley   +6 more
wiley   +1 more source

Prevalence and genotype distribution of human papillomavirus in Sulaymaniyah, Kurdistan Region, Iraq. [PDF]

Front Cell Infect Microbiol
Sleman S.
europepmc   +1 more source