Results 171 to 180 of about 3,351,878 (358)

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

Diverse novel and avian-associated viruses in the ileal viromes of Northern Mockingbird (Mimus polyglottos). [PDF]

Arch Virol
Bourke BP, Drovetski SV, Ergunay K, Linton YM, Voelker G.   +4 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Emergence of a novel reassorted high pathogenicity avian influenza A(H5N2) virus associated with severe pneumonia in a young adult. [PDF]

Sci Rep
Vázquez-Pérez JA, Becerril-Vargas E, Ramírez-González JE, Solís-Hernández M, Davis CT, Garciadiego-Fossas P, Villanueva-Reza M, Chávez-Morales HH, Mendoza-Ramírez E, Olivares-Flores CD, Vera-Jiménez AC, Rumbo-Nava U, Guadarrama-Pérez C, Recinos-Carrera EG, Zúñiga J, López-Martínez I, Hernández-Rivas L, Barrera-Badillo G, Colin-Soto N, Flores-Cisneros L, Carbajal-Sandoval G, Vidal-Aguirre D, Arellano-Suarez DS, Aparicio-Antonio R, López-Elizalde R, Alcazar-Ramiro CJ, García-López A, Di H, Kirby M, Jang Y, Lezana-Fernández MA, Hernández-Cárdenas CM.   +31 more
europepmc   +1 more source

Tumor Incidence in the Progeny of Hens Repeatedly-Injected as Adults with Visceral Lymphomatosis Virus

, 1955
R. F. Gentry, B. R. Burmester
openalex   +1 more source

Relação entre o gene B-Cell-Specific Moloney Murine Leukemia Virus Integration Site 1 (BMI-1) e genes reguladores da recombinação homóloga em carcinomas ductais invasores da mama [PDF]

, 2012
Giórgia Gobbi da Silveira
openalex   +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

Unveiling the RNA viral diversity in three organs of the Asian house shrew (<i>Suncus murinus</i>) from Tropical Hainan, China: a previously underappreciated key zoonotic reservoir. [PDF]

Front Microbiol
Huangfu H, Pu J, Jiao M, Zhou H, Fan Q, Deng H, Ling Q, Luo X, Xu J.   +8 more
europepmc   +1 more source

Pharmacokinetics, Pharmacodynamics, and Safety of Subcutaneous Belimumab in Pediatric Patients With Systemic Lupus Erythematosus: A Multicenter, Open‐Label Trial

Arthritis Care &Research, EarlyView.
Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; ClinicalTrials.gov identifier ...
Hermine I. Brunner, Jordi Antón, Inmaculada Calvo‐Penadés, Richard Dimelow, Gerd Horneff, Sylvia Kamphuis, Rebecca Marino, Andre van Maurik, Kirsten Minden, Masaaki Mori, Josephine Ocran‐Appiah, Christel Wilkinson, Yuichi Yamasaki, Deepak Assudani, for the Pediatric Rheumatology Collaborative Study Group (PRCSG) and Paediatric Rheumatology International Trials Organisation (PRINTO) Network investigators   +14 more
wiley   +1 more source

Interplay of hepatitis B virus infection and hepatocyte metabolism

, 2021
Ronak Loonawat, Michael J. Bouchard, Michael Bouchard   +2 more
openalex   +1 more source