Results 251 to 260 of about 141,941 (296)

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

Epilepsia, EarlyView.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol   +18 more
wiley   +1 more source

Personalizing Cochlear Implant Care in Single-Sided Deafness: A Distinct Paradigm from Bilateral Hearing Loss. [PDF]

J Pers Med
Lin EY, Younan SM, Barrett KC, Jiam NT.
europepmc   +1 more source

Temporohyoid osteoarthropathy presenting as unilateral epistaxis in a mare

Equine Veterinary Education, EarlyView.
Summary An 18‐year‐old Selle Français mare presented with recurrent mild left‐sided epistaxis. Guttural pouch endoscopy revealed multiple focal mucosal erosions and congested vasculature overlying an enlarged left temporohyoid joint (THJ), and standing cone beam computed tomography (CBCT) confirmed moderate left‐sided temporohyoid osteoarthropathy (THO)
S. E. Sage, S. Oesch, M. Schmidhalter, C. Koch, M. de Preux   +4 more
wiley   +1 more source

Spontaneous calcium transients in hair cell stereocilia. [PDF]

Sci Rep
Hussain S, Sedlacek M, Cui R, Zhang-Hooks W, Bergles DE, Shin JB, Kindt KS, Kachar B.   +7 more
europepmc   +1 more source

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

Dis Model Mech
Nayak G, Richard EM, Lee BC, Riordan GP, Belyantseva IA, Manta B, Friedman TB, Gladyshev VN, Riazuddin S.   +8 more
europepmc   +1 more source

Hyperkinetic Movement Disorder in <i>KARS1</i>-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review. [PDF]

Neurol Int
Ferasin V, Raicich A, Ancora C, Bonemazzi I, Di Paola A, D'Errico I, Nosadini M, Ancona C, Pelizza MF, Cassina M, Toldo I.   +10 more
europepmc   +1 more source

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis. [PDF]

J Assoc Res Otolaryngol
Cruz-Granados P, Das S, Bagheri-Loftabad K, Lopez-Escamez JA.   +3 more
europepmc   +1 more source

Everyday challenges and solutions for individuals aging with deafness. [PDF]

Innov Aging
Shende SA, Koon LM, Singleton JL, Rogers WA.   +3 more
europepmc   +1 more source