Results 71 to 80 of about 654,393 (359)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Ficus carica L. Attenuates Denervated Skeletal Muscle Atrophy via PPARα/NF-κB Pathway

Frontiers in Physiology, 2020
Treatment options for denervated skeletal muscle atrophy are limited, in part because the underlying molecular mechanisms are not well understood. Unlike previous transcriptomics studies conducted in rodent models of peripheral nerve injury, in the ...
Junxi Dai, Junxi Dai, Junxi Dai, Yaoxian Xiang, Yaoxian Xiang, Yaoxian Xiang, Da Fu, Lei Xu, Lei Xu, Lei Xu, Junjian Jiang, Junjian Jiang, Junjian Jiang, Jianguang Xu, Jianguang Xu, Jianguang Xu, Jianguang Xu   +16 more
doaj   +1 more source

Transplanted olfactory ensheathing cells promote regeneration of cut adult rat optic nerve axons [PDF]

, 2003
Transplantation of olfactory ensheathing cells into spinal cord lesions promotes regeneration of cut axons into terminal fields and functional recovery.
Li, D., Li, Y., Lund, R.D., Raisman, G., Sauvé, Y.   +4 more
core  

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Comparative analysis of surgical effectiveness between minimal invasive decompression and transforaminal lumbar interbody fusion in lumbar stenosis treatment

Brain and Spine, 2021
E. Brinyuk, N. Konovalov, A. Nazarenko, S. Kaprovoy, D. Asyutin, M. Shultz, R. Onoprienko, V. Korolishin, B. Zakirov, P. Zelenkov, A. Pogosyan, V. Rybakov   +11 more
doaj   +1 more source

The potential benefit of artificial intelligence regarding clinical decision-making in the treatment of wrist trauma patients

Journal of Orthopaedic Surgery and Research
Purpose The implementation of artificial intelligence (AI) in health care is gaining popularity. Many publications describe powerful AI-enabled algorithms.
Marco Keller, Meret Rohner, Philipp Honigmann   +2 more
doaj   +1 more source

Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]

, 2014
BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M, Eilber, Fritz C, Federman, Noah, Li, Yunfeng, Nakashima, Jonathan, Shurell, Elizabeth, Smith, Kathleen B, Tam, Brenna M, Tap, William D, Tran, Linh M, Wu, Hong   +10 more
core   +2 more sources

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Comparison of the efficacy and safety of the posterior and paramedian minimally invasive approaches to ventral and ventro-lateral intradural extramedullary tumors

Brain and Spine, 2021
D. Asyutin, N. Konovalov, A. Nazarenko, R. Onoprienko, V. Korolishin, S. Kaprovoy, E. Brinyuk, A. Pogosyan, S. Timonin, B. Zakirov, M. Shultz, Y. Poluektov   +11 more
doaj   +1 more source

Multipotent vascular stem cells contribute to neurovascular regeneration of peripheral nerve. [PDF]

, 2019
BackgroundNeurovascular unit restoration is crucial for nerve regeneration, especially in critical gaps of injured peripheral nerve. Multipotent vascular stem cells (MVSCs) harvested from an adult blood vessel are involved in vascular remodeling; however,
Hsueh, Yuan-Yu, Huang, Ching-Wen, Huang, Wen-Chin, Li, Song, Patel, Shyam   +4 more
core