Results 231 to 240 of about 3,445,482 (314)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A patient with aortic annular rupture secondary to blood culture-negative endocarditis: A case report. [PDF]

Front Cardiovasc Med
Hua M, Sun J, Wang Y, Wan X, Liu C, Wang L.   +5 more
europepmc   +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

Three New Philosophical Categories for Holistically Assessing Complementary Medicine, Derived from the History and Theory of Medicine.

Complement Med Res
Schmidt JM.
europepmc   +1 more source

Othering and Belonging. [PDF]

Int J Circumpolar Health
Montgomery-Andersen R.
europepmc   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

The Discovery Research Platform for Medical Humanities responds to the Wellcome Trust's report on <i>Archives, manuscripts and material culture (AMCs) in life, health, and wellbeing research</i>. [PDF]

Wellcome Open Res
Barratt H, Johnstone F, McGuire C.
europepmc   +1 more source

Minimally Clinically Important Difference of the Clinical Assessment Scale in Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh, Yoon Hee Shin, Soo Hyun Ahn, Su Yee Mon, Soo Jean Shin, Woo‐Jin Lee, Yoonhyuk Jang, Myoung‐Jin Jang, Soon‐Tae Lee   +8 more
wiley   +1 more source

<i>Scedosporium apiospermum</i>: An Emerging yet Overlooked Fungal Pathogen in Veterinary Medicine-A Case-Based Review. [PDF]

J Fungi (Basel)
Milanov D, Vidaković-Knežević S, Polaček V, Pajić M.   +3 more
europepmc   +1 more source