Results 91 to 100 of about 3,013,970 (265)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sarcopenia and impairment in cognitive and physical performance

, 2015
Magdalena I Tolea,1 James E Galvin1–3 1Alzheimer’s Disease Center, Department of Neurology, 2Department of Psychiatry, 3Department of Population Health, New York University School of Medicine, New York, NY, USA Background: Whether ...
Galvin JE, Tolea MI, Galvin, James E, Tolea, Magdalena I   +3 more
core   +1 more source

A Minimally Invasive Framework Reveals Region‐Specific Cerebrovascular Remodeling in Aging Using Intravital Functional Ultrasound Imaging and Ultrasound Localization Microscopy (fUS‐ULM)

Advanced Science
Aging impairs cerebrovascular structure and function, contributing to cognitive decline and dementia. Here, a novel, high‐resolution, intravital imaging platform is presented that combines functional ultrasound (fUS) and ultrasound localization ...
Sharon Negri, Adam Nyul‐Toth, Madison Milan, Eva Troyano‐Rodriguez, Sherwin Tavakol, Jennifer Ihuoma, Zeke Reyff, Rakesh Rudraboina, Rafal Gulej, Raymond Jang, Anna Csiszar, Zoltan Ungvari, Audrey Cleuren, David R Miller, Andriy Yabluchanskiy, Mickael Tanter, Stefano Tarantini   +16 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Efficacy of Cognitive Training in Older Adults with and without Subjective Cognitive Decline Is Associated with Inhibition Efficiency and Working Memory Span, Not with Cognitive Reserve

Frontiers in Aging Neuroscience, 2018
The present study explores the role of cognitive reserve, executive functions, and working memory (WM) span, as factors that might explain training outcomes in cognitive status.
Ramón López-Higes, María T. Martín-Aragoneses, María T. Martín-Aragoneses, Susana Rubio-Valdehita, María L. Delgado-Losada, Pedro Montejo, Mercedes Montenegro, José M. Prados, Jaisalmer de Frutos-Lucas, David López-Sanz   +9 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Phospholipase D, a Novel Therapeutic Target Contributes to the Pathogenesis of Neurodegenerative and Neuroimmune Diseases

Analytical Cellular Pathology
Phospholipase D (PLD) is an enzyme that consists of six isoforms (PLD1–PLD6) and has been discovered in different organisms including bacteria, viruses, plants, and mammals.
Weiwei Zhang, Feiqi Zhu, Jie Zhu, Kangding Liu   +3 more
doaj   +1 more source

Associations of apolipoprotein E ε4 allele, regional cerebral blood flow, and serum liver function markers in patients with cognitive impairment

Frontiers in Neurology
IntroductionThe ε4 allele of the apolipoprotein E gene (APOE4) is expressed abundantly in both the brain and peripheral circulation as a genetic risk factor for Alzheimer’s disease (AD). Cerebral blood flow (CBF) dysfunction is an essential feature of AD,
Hao Wang, Lin Shi, Shimei Luo, Yishan Luo, Chunyan Xu, Guozhen Qiu, Qiwen Guo, Chunchun Chen, Taikun Lu, Kangding Liu, Feiqi Zhu   +10 more
doaj   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Safety and efficacy of intrathecal methotrexate in severe anti-NMDAR encephalitis: a single-institution retrospective study

Frontiers in Immunology
BackgroundAnti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the most common forms of autoimmune encephalitis (AE). Most cases can achieve clinical relief with first- and second-line immunotherapies, while approximately 25% are ...
Minghui Tuo, Minghui Tuo, Jiabin Fang, Yuanteng Fan, Yuanteng Fan, Yan Xu, Yan Xu   +6 more
doaj   +1 more source