Results 321 to 330 of about 569,920 (414)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Periodontitis induces skeletal muscle atrophy by increasing circulating levels of activin A. [PDF]

Nat Commun
Shim W, Suh J, Kim HK, Kim NK, Kim Y, Jeong YT, Kim MS, Lee SJ, Lee YS.   +8 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Linking growth pattern with Lipprints and fingerprints. [PDF]

Bioinformation
E R A, Hegde M, C C, S Pai V, Gholap M.
europepmc   +1 more source

Real‐world outcomes of responsive neurostimulation in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood, Robert J. Bollo, Catherine J. Chu, Alexandra L. Geffrey, Robert Mark Richardson, Hiroki Nariai, Aria Fallah, Samuel Ahn, Saadi Ghatan, Laura Chenevert, Maite La Vega‐Talbott, Audie C. Espinoza   +11 more
wiley   +1 more source

Systemic administration of liposomal trehalose dimycolate induces NK1.1⁺ cell mediated antitumor immunity in bladder cancer. [PDF]

BMC Cancer
Tanuma K, Shiga M, Sano K, Hamada K, Nitta S, Chihara I, Nagumo Y, Kandori S, Hoshi A, Negoro H, Mathis BJ, Miyazaki J, Nishiyama H.   +12 more
europepmc   +1 more source

Minimum standards for the management of cleft lip and palate: efforts to close the audit loop. Royal College of Surgeons of England.

, 1996
William C. Shaw, Alison C. Williams, Jonathan Sandy, Hugh Devlin   +3 more
openalex  

Piezosurgical partial ostectomy of the incisive bone for an ossifying fibroma removal in a 4‐year‐old Warmblood gelding

Equine Veterinary Journal, EarlyView.
Abstract Background Ossifying fibromas are uncommon in horses and complete surgical excision with premaxillectomy, maxillectomy or mandibulectomy is recommended. Piezosurgery has been previously used in equines only in one study. Objective To report a case of ossifying fibroma treated with piezosurgery and to describe its follow‐up.
G. Forni, M. E. Falomo, I. Casalini, M. Isola   +3 more
wiley   +1 more source

Laser neoureterocystostomy to treat ectopic ureters

Equine Veterinary Journal, EarlyView.
Abstract Background Ureteral ectopia is an uncommon but clinically important congenital abnormality in horses. If left untreated, it can lead to persistent dermatitis, urinary tract infections, and failure to thrive. Surgical correction is necessary, but traditional approaches have produced mixed results with high morbidity.
Caitlin Smith, Eric J. Parente
wiley   +1 more source

Limited Proteolysis Mass Spectrometry to Identify Protein Structural Differences in Brain Tissue. [PDF]

Bio Protoc
Tarbox HE, Fried SD.
europepmc   +1 more source