Results 161 to 170 of about 2,075,851 (384)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

Erratum for “Discussion of “Analysis of Continuous Frames By Distributing Fixed-End Moments” (1932)” [PDF]

, 1936
C. P. Vetter, L. E. Grinter, S. S. Gorman, A. A. Eremin, Elmer F. Bruhn, A. H. Finlay, R. F. Lyman, R. A. Caughey, Orrin H. Pilkey, I. Oesterblom, Robert A. Black, Harold E. Wessman, Edward J. Bednarski, Surabhi Mitra, Jens Egede Nielsen, F. E. Richart, William A. Oliver, R. R. Mantel, Clyde T. Morris, Francis P. Witmer, T. F. Hickerson, F. H. Constant, W. N. Downey, E. C. Hartmann, Thomas C. Shedd, David M. Wilson, Marshall G. Findley, George E. Large, Sophus Thompson, R. W. Cutler, Alfred Gordon, A. W. Earl, A. Floris, I. M. Nelidov, E. A. MacLean, George M. Dillingram, D.E. Larson, J. A. Van den Broek   +37 more
openalex   +1 more source

Very High‐Frequency Oscillations in Mesial Temporal Lobe Epilepsy: Identifying the Epileptogenic Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the reliability of very high‐frequency oscillations (VHFOs, 500–2000 Hz) as biomarkers in identifying the epileptogenic zone (EZ) in mesial temporal lobe epilepsy (MTLE) patients. Methods We reviewed 19 MTLE patients who underwent stereo‐electroencephalography‐guided radiofrequency thermocoagulation.
Stéphane Jean, Yihai Dai, Yan Cui, Donghuo Deng, Zhe Qian, Panashe Tevin Tagu, Weitao Chen, Weihong Liu, Xiaoqiang Wei, Xinrong Fang, Shiwei Song   +10 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Presentation of Refugees on the News Web Portals in Bosnia and Herzegovina

Društvene i Humanističke Studije, 2016
In this work we analyze ways in which the refugees from Syria are represented on web portals in Bosnia and Herzegovina. We conducted a research concerning the scope of attention devoted to refugees’ problems by four of the most visited web portals in ...
Amela Delić
doaj  

Discussion: “The Use of Alloy Steels for Side Frames and Bolsters of Freight-Car Trucks” (Barrows, Donald S., 1936, Trans. ASME, 58, pp. 727–731) [PDF]

, 1937
H. W. Stertzbach
openalex   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Media Framing and Framing by Politicians

Journal of Government and Politics, 2019
There are substantial amount of academic research regarding to how media do the framing on certain issue. However, empirical research on the framing interactions is still difficult to find. This study endeavors to fill the void by questioning the mutual influences between media framing and framing by politicians on a specific issue during the political
openaire   +3 more sources