Results 221 to 230 of about 10,691 (341)

Robust Tests in Genome-Wide Scans under Incomplete Linkage Disequilibrium [PDF]

, 2009
Gang Zheng, Jungnam Joo, Dmitri Zaykin, Colin Wu, Nancy Geller   +4 more
openalex   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Visceral Leishmaniasis in Somalia: Diagnosis and Management of a Classic Case in a Resource-Limited Endemic Setting. [PDF]

Clin Case Rep
Hussein AN, Ali AO, Ahmed RZ, Abdirahman SM, Abdiwahab AD.   +4 more
europepmc   +1 more source

Antimalarial drug prescribing by healthcare workers when malaria testing is negative: a qualitative study in Madagascar [PDF]

, 2018
RAKOTONANDRASANA David Harimbola, TSUKAHARA Takahiro, YAMAMOTO-MITANI Noriko   +2 more
core   +2 more sources

Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping [PDF]

Pamela Gan Hui Peng, Yeo Han Lin, Muhammad Irfan Bin Hajis, Yusuf Maulana, Audrey Ng Qi Hui, Kevin Nathanael Ramanto, Marta Nisita Dewanggana, Astrid Irwanto, Levana Sani, Ling Goh Liuh, Mar Gonzàlez-Porta   +10 more
openalex   +1 more source

A method to customize population-specific arrays for genome-wide association testing [PDF]

, 2016
Erik A. Ehli, Abdel Abdellaoui, Iryna O. Fedko, Charlie Grieser, Sahar Nohzadeh‐Malakshah, Gonneke Willemsen, Eco J. C. de Geus, Dorret I. Boomsma, Gareth E. Davies, Jouke‐Jan Hottenga   +9 more
openalex   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Benefits of physical activity on cognitive function in patients with neurocognitive disorders: A systematic review. [PDF]

J Frailty Aging
Decaix T, Bonnin C, Götze K, François V, Petit C, Rivière C, Greffard S, Cognat E, Hugon J, Paquet C, Sindzingre L, Lilamand M.   +11 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Validation of stool and blood analysis compared to Inv A and ttr based direct blood qPCR assay as diagnostic tools for typhoid fever. [PDF]

BMC Microbiol
Elaskary SA, Badawy HM, Elgendy DS, Abdelmaksoud AM, Mostafa RG.   +4 more
europepmc   +1 more source