Results 151 to 160 of about 252,175 (379)

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Lens densitometry for assessment and prediction of cataract progression after pars plana vitrectomy with C3F8-gas for retinal detachment

, 2021
Philipp Schindler, Luca Mautone, Eileen Bigdon, Vasyl Druchkiv, Martin S. Spitzer, Christos Skevas   +5 more
openalex   +2 more sources

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Effect of Teriparatide in Postmenopausal Women with Osteoporosis

Journal of Mazandaran University of Medical Sciences, 2018
Background and purpose: Osteoporosis is the most common metabolic bone disease. The aim of this study was to evaluate the effects of teriparatide on the incidence of fractures and bone density in postmenopausal women with osteoporosis.
Masoud Shayestehazar, Mohammadhossein Kariminasab, Salman Ghafari, Seyed Afshin Shorofi, Fatemeh Niksolat, Zeynab Andarkhora   +5 more
doaj  

Evaluation of Corneal and Lens Densitometry with Scheimpflug Imaging in Young Beta Thalassemia Patients

, 2022
Hafize Gökben Ulutaş, Elif Güler Kazancı   +1 more
openalex   +2 more sources

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Human Brain Contusions Contain Pathogenic Transmissible Species that Induce Progressive Cognitive Decline and Tau Pathology in Mice

Annals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) is an established risk factor for dementia, although the underlying mechanisms remain unclear. Our previous research demonstrated that a single severe TBI in wild‐type (WT) mice induces a prion‐like form of tau (tauTBI) that spreads throughout the brain, leading to memory deficits.
Gloria Vegliante, Francesca Pischiutta, Elena Restelli, Federico Moro, Maria Antonietta Chiaravalloti, Ilaria Raimondi, Ilaria Bertani, Ilaria Lisi, Eliana Sammali, Rosaria Pascente, Serena Scozzari, Laura Pasetto, Carly Douglas, Marco Locatelli, Fabrizio Ortolano, Valentina Bonetto, David J. Loane, Nino Stocchetti, Roberto Chiesa, Elisa R. Zanier   +19 more
wiley   +1 more source

Changes in zebrafish (Danio rerio) lens crystallin content during development. [PDF]

, 2013
PurposeThe roles that crystallin proteins play during lens development are not well understood. Similarities in the adult crystallin composition of mammalian and zebrafish lenses have made the latter a valuable model for examining lens function.
Corbin, Rebecca W, Ding, Linlin, Horwitz, Joseph, Posner, Mason, Wages, Phillip   +4 more
core   +1 more source

Fracture as a Risk Factor for Recurrent Fractures. The Value of Bone Densitometry in the Examination of Children with Bone Fractures

, 2022
Umarov Fayzulla, Matanov Zamirbek
openalex   +2 more sources

Skylab 1 (1/2) sensitometric summary [PDF]

Sensitometric data obtained from all rolls of Skylab 1 original film containing sensitometric exposures applied by the Photographic Technology Division are presented.
Weinstein, M. S.
core   +1 more source