Results 221 to 230 of about 1,659,896 (386)
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective
Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler +6 morewiley +1 more sourceInterleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi +13 morewiley +1 more sourceResearch paperHow effective are strategies for non-communicable disease prevention and control in a high risk population in a developing country? Isfahan Healthy Heart Programme [PDF]
, 2010 Abdolmehdi Baghaei, Nizal Sarrafzadegan, Katayoun Rabiei, Mojgan Gharipour, Ali Akbar Tavasoli, Shahin Shirani, Ahamad Bahonar, Amir Hossein Davarpanah, Mohammad Arash Ramezani, Roya Kelishadi +9 moreopenalex +1 more sourceSNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez +18 morewiley +1 more sourceA Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici +95 morewiley +1 more sourceDecreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao +18 morewiley +1 more source