Results 151 to 160 of about 1,121,486 (361)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

101. Consequences of DNA-Dependent Protein Kinase Catalytic Subunit Deficiency on Recombinant Adeno-Associated Virus Genome Circularization and Heterodimerization in Muscle [PDF]

, 2003

openalex   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Proteomic Investigation of Changes in Rat Skeletal Muscle after Exercise-Induced Fatigue

Biological Research, 2012
The mechanisms of exercise-induced fatigue have not been investigated using proteomic techniques, an approach that could improve our understanding and generate novel information regarding the effects of exercise. In this study, the proteom alterations of
Liping Zhao, Wenhui Yan, Heng Xiang, Xiaoyang Wang, Haixuan Qiao   +4 more
doaj  

Muscle-specific MicroRNA1 (miR1) Targets Heat Shock Protein 70 (HSP70) during Dexamethasone-mediated Atrophy*

, 2013
Himani Kukreti, Kottaiswamy Amuthavalli, Arigela Harikumar, Sushmitha Sathiyamoorthy, Peng Zhao Feng, Rengaraj Anantharaj, Suan Liang Kelvin Tan, Sudarsanareddy Lokireddy, Sabeera Bonala, Sandhya Sriram, Craig McFarlane, Ravi Kambadur, Mridula Sharma   +12 more
openalex   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle [PDF]

, 2016
Akiyoshi Uezumi, Masashi Nakatani, Madoka Ikemoto‐Uezumi, Naoki Yamamoto, Mitsuhiro Morita, Asami Yamaguchi, Harumoto Yamada, Takehiro Kasai, S. Masuda, Asako Narita, Yuko Miyagoe‐Suzuki, Shin’ichi Takeda, So‐ichiro Fukada, Ichizo Nishino, Kunihiro Tsuchida   +14 more
openalex   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Activation and Mitochondrial Translocation of Protein Kinase Cδ Are Necessary for Insulin Stimulation of Pyruvate Dehydrogenase Complex Activity in Muscle and Liver Cells [PDF]

, 2001
Matilde Caruso, Maria Alessandra Maitan, Giuseppe Bifulco, Claudia Miele, Giovanni Vigliottá, Francesco Oriente, Pietro Formisano, Francesco Bèguinot   +7 more
openalex   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source