Results 61 to 70 of about 716,091 (301)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Targeted up-regulation of Drp1 in dorsal horn attenuates neuropathic pain hypersensitivity by increasing mitochondrial fission

Redox Biology, 2022
Mitochondria play an essential role in pathophysiology of both inflammatory and neuropathic pain (NP), but the mechanisms are not yet clear. Dynamin-related protein 1 (Drp1) is broadly expressed in the central nervous system and plays a role in the ...
Kun-Long Zhang, Shu-Jiao Li, Xue-Yin Pu, Fei-Fei Wu, Hui Liu, Rui-Qing Wang, Bo-Zhi Liu, Ze Li, Kai-Feng Li, Nian-Song Qian, Yan-Ling Yang, Hua Yuan, Ya-Yun Wang   +12 more
doaj  

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley, Bradley Judge, Dmitriy A. Yablonskiy, Robert T. Naismith, Matthew R. Brier, Anne H. Cross   +5 more
wiley   +1 more source

Research progress of spinophilin in nervous system diseases [PDF]

Jichu yixue yu linchuang, 2021
Spinophilin (SPN) was first isolated from the dendritic spines of neurons as a binding protein of protein phosphatase PP1, it is also known as PPP1R9B.
XING Jing-song, KE Tian-tian, ZHANG Lin, LIANG Dong, ZHANG Tong, GAO Shang-feng
doaj  

Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita, Neel Desai, Abigail R. Manning, Caitlin Pileggi, Sara Manning Peskin, Danielle K. Sandsmark, Dennis L. Kolson, Matthew K. Schindler   +7 more
wiley   +1 more source

Diseases of the nervous system [PDF]

Handbook of Pig Medicine, 2007
Jackson, Peter GG, Cockcroft, Peter D
europepmc   +3 more sources

Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić, Sanda Pavelin, Nikolina Pleić, Joško Šoda, Krešimir Dolić, Anita Markotić, Ana Ćurković Katić, Angela Mastelić, Nikolina Režić Mužinić, Jasna Duranović, Zlatko Kljajić, Ivona Stipica Safić, Zoran Đogaš, Maja Rogić Vidaković   +13 more
wiley   +1 more source

Facet joint osteoarthritis as a cause of chronic low back pain

Неврология, нейропсихиатрия, психосоматика, 2019
Chronic nonspecific low back pain (LBP) is the most common cause of disability and a lower quality of life in modern society.Objective: to discuss the feasibility of identifying the causes of chronic nonspecific LBP and in the case of detection of damage
D. O. Rozhkov, O. E. Zinovyeva, A. N. Barinov, A. M. Nosovsky   +3 more
doaj   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source