Results 101 to 110 of about 1,634,200 (363)

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

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

Computer simulation of syringomyelia in dogs [PDF]

, 2018
Syringomyelia is a pathological condition in which fluid-filled cavities (syringes) form and expand in the spinal cord. Syringomyelia is often linked with obstruction of the craniocervical junction and a Chiari malformation, which is similar in both ...
AC Freeman, AR Brodbelt, B Williams, B Williams, B Williams, BA Martin, BA Martin, BA Martin, C Rusbridge, C Rusbridge, C Rusbridge, C Rusbridge, C Rusbridge, CA Schneider, CD Bertram, CD Bertram, CD Bertram, CD Bertram, CJ Driver, Clare Rusbridge, DJ Marino, DN Levine, EC Clarke, F Loth, Holger A. Volk, HS Chang, IM Vavasour, J Strahle, JD Heiss, JE Parker, Jelena Jovanovik, K Berkouk, K Chandler, KH Stoverud, LE Bilston, LE Bilston, M Heil, M Kim, M Perdiki, MA Stoodley, MJ Hezzell, N Alperin, NJ Alperin, NJ Fischbein, NS Elliott, NS Elliott, NSJ Elliott, NSJ Elliott, PW Carpenter, R Fric, Robert Lloyd, S Cerda-Gonzalez, S Cirovic, S Cirovic, S Heidari Pahlavian, S Loderstedt, S Yildiz, SJ Hemley, SP Knowler, SP Knowler, Srdjan Cirovic, TH Milhorat, TH Milhorat, W Kalata, WD Whetstone   +64 more
core   +3 more sources

Effectiveness and Safety of Acupotomy on Lumbar Spinal Stenosis: A Pragmatic, Pilot, Randomized Controlled Trial [Letter]

, 2023
Weichi Wei, Xin Peng, Xuan Su
openalex   +2 more sources

The Effectiveness of Various Types of Electrical Stimulation of the Spinal Cord for Chronic Pain in Patients with Postherpetic Neuralgia: A Literature Review [PDF]

, 2023
E D Isagulyan, Vasily Tkachenko, Denis Semenov, Svetlana Asriyants, Е В Дорохов, Elizaveta Makashova, K S Aslakhanova, Alexei Tomskiy   +7 more
openalex   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Morphometric Analysis of Dry Typical Thoracic Vertebrae: A Cross sectional Study from Telangana, India [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Morphometric measurements of dry typical thoracic vertebrae play an important role clinically in managing scoliosis, performing laminectomies, guiding pedicle screw fixation, and in designing spinal implants or prostheses for ...
BH Shiny Vinila, Masooma Begum, K Ephraim Vikram Rao, E Rajshekhar Reddy   +3 more
doaj   +1 more source

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +3 more sources

Sirt2 in the Spinal Cord Regulates Chronic Neuropathic Pain Through Nrf2-Mediated Oxidative Stress Pathway in Rats [PDF]

, 2021
Mengnan Zhao, Xiaojiao Zhang, Xueshu Tao, Bohan Zhang, Cong Sun, Pinying Wang, Tao Song   +6 more
openalex   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source