Results 51 to 60 of about 405,288 (211)

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

A Rare Presentation of Invasive Tuberculosis of the Central Nervous System in an Immunocompetent Patient in a Nonendemic Country. [PDF]

, 2018
We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed
Campillo, J, Casimiro, C, Herrero Valverde, A, Martins, R   +3 more
core   +1 more source

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

Exosomal MicroRNA Signatures in Central Nervous System Diseases [PDF]

, 2018
During the last decade there has been a growing interest in studying extracellular vesicles, in particular exosomes and their miRNA contents. Exosomes are released by almost all cell types.
Ebrahimkhani, Saeideh
core  

Understanding Childhood Neuroimmune Diseases of the Central Nervous System [PDF]

, 2019
Immune-mediated diseases of the central nervous system (CNS) in childhood are a heterogeneous group of rare conditions sharing the inflammatory involvement of the CNS.
Farello G, Matricardi S, Savasta S, Verrotti A   +3 more
core   +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

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

NMR metabolomics of cerebrospinal fluid differentiates inflammatory diseases of the central nervous system [PDF]

, 2018
BACKGROUND: Myriad infectious and noninfectious causes of encephalomyelitis (EM) have similar clinical manifestations, presenting serious challenges to diagnosis and treatment.
Amzuta, Ioana G., Brunner, Andrew M., David, Dan, Encarnacion, Rafael, Fatteh, Naaz, Fernandez, Josefina, Foley, John F., French, Caitlin D., Hu, William T., Javaid, Waleed, Mishchuk, Darya O., Neilan, Anne M., Ondrush, Joanne M., Paez, Andres, Pan, Amy, Robbins, Gregory K., Slupsky, Carolyn M., Wheat, L. Joseph, Willoughby, Rodney E., Wong, Susan J.   +19 more
core   +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

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