Results 231 to 240 of about 208,088 (288)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Online tutorial on survival analysis for biomarker discovery. [PDF]

PLoS Comput Biol
Kokošar J, Praznik E, Špendl M, Moreno NP, Newell A, Shaulsky G, Zupan B.   +6 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

Testosterone Exposure During Fetal Masculinization Programming Window Determines the Kidney Size in Adult Mice. [PDF]

FASEB J
Junnila A, Rytkönen KT, Martinez-Nieto G, Perk M, Mäkelä O, Li H, Airaksinen J, Hyötyläinen I, Mehtovuori O, Laiho A, Ohlsson C, Elo LL, Kuure S, Poutanen M, Sipilä P.   +14 more
europepmc   +1 more source

Editorial: Human milk, nutrition and infant development, volume II. [PDF]

Front Nutr
Pérez-Cano FJ, Demers-Mathieu V, Billeaud C.   +2 more
europepmc   +1 more source

Maternal Overnutrition and Fetal Programming: Long-Term Metabolic, Cognitive, and Epigenetic Consequences. [PDF]

Cells
Schiera G, Macajone G, Volpes S, Greco L, Di Liegro CM, Serio G, Caradonna F, Naselli F.   +7 more
europepmc   +1 more source

Double-strand break-free epigenetic programming: a safer path for T-cell therapies. [PDF]

Signal Transduct Target Ther
Deng L, Yang Y, El-Osta A, El-Osta A.
europepmc   +1 more source

FungiNetDB: a uniform (pre-)processing platform for fungal expression data. [PDF]

Microlife
Schäuble S, Albrecht-Eckardt D, Panagiotou G.   +2 more
europepmc   +1 more source

Inhibition of NFAT after human uterus transplant promotes loss of tissue-resident NK cells and attendant pregnancy complications. [PDF]

Sci Transl Med
Asiimwe R, Knott B, Greene ME, Wright ED, Bell M, Epstein D, Yates SD, Gonzalez MV, Fry S, Boydston Procópio E, Clevenger S, Locke JE, Brocato BE, Burgan CM, Burney R, Arora N, Duncan VE, Richter HE, Gunn D, Freud AG, Little SC, Porrett PM.   +21 more
europepmc   +1 more source