Results 171 to 180 of about 423,991 (315)

Peripheral Nerve Lesions in a Case of Equine Motor Neuron Disease.

, 1999
Hidefumi Furuoka, Mituru Hasegawa, Yoshiyasu KOBAYASHI, T. Matsui   +3 more
openalex   +2 more sources

THEME 5 Improving Diagnosis and Prognosis in Motor Neuron Diseases [PDF]

, 2005

openalex   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Assisted ventilation withdrawal in motor neuron disease: updated results. [PDF]

BMJ Support Palliat Care
Bleazard L, Palmer J, Wenzel D, Jeffery T, Faull C.   +4 more
europepmc   +1 more source

A motor neuron disease–associated mutation in p150Glued perturbs dynactin function and induces protein aggregation [PDF]

, 2006
Jennifer Lévy, Charlotte J. Sumner, Juliane P. Caviston, Mariko Tokito, Srikanth Ranganathan, Lee A. Ligon, Karen E. Wallace, Bernadette H. LaMonte, George G. Harmison, Imke Puls, Kenneth H. Fischbeck, Erika L.F. Holzbaur   +11 more
openalex   +1 more source

A 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 more
wiley   +1 more source

Chronic HIV Infection Associated With Motor Neuron Disease and Parkinsonism: A Case Report and Narrative Review. [PDF]

Cureus
Sabbadini PV, Orsini MA, Amorelli Figueira JC, Ashmawi OH, Amorelli Fernandes A, Costa JV, De Mello Tavares T, De Freitas M, Oliveira AS, McBenedict B.   +9 more
europepmc   +1 more source

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Proceedings of the National Academy of Sciences of the United States of America, 2013
Eveline S. Arnold, Shuo-Chien Ling, Stephanie C. Huelga, C. Lagier-Tourenne, M. Polymenidou, D. Ditsworth, H. Kordasiewicz, Melissa McAlonis-Downes, O. Platoshyn, P. Parone, S. Da Cruz, Kevin M Clutario, Debbie Swing, L. Tessarollo, M. Marsala, C. Shaw, Gene W. Yeo, D. Cleveland   +17 more
semanticscholar   +1 more source

Decreased 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 more
wiley   +1 more source

Inter-Night Variability of Nocturnal Pulse Oximetry in People Living With Motor Neuron Disease: A Retrospective Observational Study. [PDF]

Respirology
Luu S, McGuiness O, Menadue C, Piper AJ, Wong K, Yee BJ, Gray EL.   +6 more
europepmc   +1 more source