Results 241 to 250 of about 46,705 (302)

Harmonized geospatial data to evaluate the Electric Distribution Networks in the US Northeast. [PDF]

Sci Data
Salbanya B, Nin J, Gras Alomà R.
europepmc   +1 more source

PITSCHI: The Imaging Data Management System at CMM, UQ Enabling FAIR and Persistent Identifier-Driven Research Data Management

Rubbiya Ali
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

Ruxolitinib and Hydroxycarbamide Are the Most Efficient Drugs to Reduce Aquagenic Pruritus Intensity in a Real-Word Cohort of Patients With Myeloproliferative Neoplasms. [PDF]

EJHaem
Gall-Ianotto CL, Civi L, Pan-Petesch B, Herbreteau L, Rio L, Lambert WC, Misery L, Lippert E, Ianotto JC.   +8 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

Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome. [PDF]

Neurogenetics
Fagundes TP, Alves GM, Favaro MG, Yamamoto JYS, Silva LR, Abud LG, Pentiado Junior JAM.   +6 more
europepmc   +1 more source

ERPANET Seminar on Persistent Identifiers

Archivalia, 2004
openaire   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Multilocus sequence typing and genomic characterization of the novel Streptomyces strain SCPE-10, that resists 2,4-D toxicity and has bioremediation potential. [PDF]

Braz J Microbiol
Nhampossa NA, de Almeida Araújo JVC, da Silva VAS, Amaral JRV, da Conceição CS, Gonçalves CAX, Squizani ED, da Silva S, Vidal MS, Chen Y, Macrae A, do Nascimento RP.   +11 more
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source