Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

por Shen, Xin‐Ming, Milone, Margherita, Wang, Hang‐Long, Banwell, Brenda, Selcen, Duygu, Sine, Steven M., Engel, Andrew G.
Publicado 2019

Validation of a self‐completed Dystonia Non‐Motor Symptoms Questionnaire

por Klingelhoefer, Lisa, Chaudhuri, Kallol R., Kamm, Christoph, Martinez‐Martin, Pablo, Bhatia, Kailash, Sauerbier, Anna, Kaiser, Maximilian, Rodriguez‐Blazquez, Carmen, Balint, Bettina, Untucht, Robert, Hall, Lynsey J., Mildenstein, Lauritz, Wienecke, Miriam, Martino, Davide, Gregor, Olaf, Storch, Alexander, Reichmann, Heinz
Publicado 2019

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

por Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Alsaif, Saif, AlMohaimeed, Sulaiman A., Almashary, Maher A., Alharbi, Wardah, Alayyar, Latifah, Alasiri, Abdulrahman, Ballow, Mariam, AlAbdulrahman, Abdulkareem, Alaujan, Monira, Nashabat, Marwan, Al‐Odaib, Ali, Altwaijri, Waleed, Al‐Rumayyan, Ahmed, Alrifai, Muhammad T., Alfares, Ahmed, AlBalwi, Mohammed, Tabarki, Brahim
Publicado 2019

Genetics of diabetic neuropathy: Systematic review, meta‐analysis and trial sequential analysis

por Zhao, Yating, Zhu, Ruixia, Wang, Danni, Liu, Xu
Publicado 2019

Dominant collagen XII mutations cause a distal myopathy

por Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Publicado 2019

10 kHz cervical SCS for chronic neck and upper limb pain: 12 months’ results

por El Majdoub, Faycal, Neudorfer, Clemens, Richter, Ronald, Schieferdecker, Simon, Maarouf, Mohammad
Publicado 2019

PAI‐1 5G/5G genotype is an independent risk of intracranial hemorrhage in post‐lysis stroke patients

por Szegedi, István, Nagy, Attila, Székely, Edina G., Czuriga‐Kovács, Katalin R., Sarkady, Ferenc, Lánczi, Levente I., Berényi, Ervin, Csiba, László, Bagoly, Zsuzsa
Publicado 2019

APP‐derived peptides reflect neurodegeneration in frontotemporal dementia

por Illán‐Gala, Ignacio, Pegueroles, Jordi, Montal, Victor, Alcolea, Daniel, Vilaplana, Eduard, Bejanin, Alexandre, Borrego‐Écija, Sergi, Sampedro, Frederic, Subirana, Andrea, Sánchez‐Saudinós, María‐Belén, Rojas‐García, Ricard, Vanderstichele, Hugo, Blesa, Rafael, Clarimón, Jordi, Antonell, Anna, Lladó, Albert, Sánchez‐Valle, Raquel, Fortea, Juan, Lleó, Alberto
Publicado 2019

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

por Payne, Jonathan M., Hearps, Stephen J. C., Walsh, Karin S., Paltin, Iris, Barton, Belinda, Ullrich, Nicole J., Haebich, Kristina M., Coghill, David, Gioia, Gerard A., Cantor, Alan, Cutter, Gary, Tonsgard, James H., Viskochil, David, Rey‐Casserly, Celiane, Schorry, Elizabeth K., Ackerson, Joseph D., Klesse, Laura, Fisher, Michael J., Gutmann, David H., Rosser, Tena, Packer, Roger J., Korf, Bruce, Acosta, Maria T., North, Kathryn N.
Publicado 2019

Length‐dependent MRI of hereditary neuropathy with liability to pressure palsies

por Pridmore, Michael, Castoro, Ryan, McCollum, Megan Simmons, Kang, Hakmook, Li, Jun, Dortch, Richard
Publicado 2019

Pallidal versus subthalamic nucleus deep brain stimulation for levodopa‐induced dyskinesia

por Fan, Shi‐Ying, Wang, Kai‐Liang, Hu, Wei, Eisinger, Robert S., Han, Alexander, Han, Chun‐Lei, Wang, Qiao, Michitomo, Shimabukuro, Zhang, Jian‐Guo, Wang, Feng, Ramirez‐Zamora, Adolfo, Meng, Fan‐Gang
Publicado 2019

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

por Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai‐He, Kramer, Martin, Call, Katherine, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Moran, John J., Gutmann, Laurie, Feely, Shawna M. E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Svaren, John, Shy, Michael E.
Publicado 2019

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

por Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
Publicado 2019

Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy

por Komaki, Hirofumi, Maegaki, Yoshihiro, Matsumura, Tsuyoshi, Shiraishi, Kazuhiro, Awano, Hiroyuki, Nakamura, Akinori, Kinoshita, Satoru, Ogata, Katsuhisa, Ishigaki, Keiko, Saitoh, Shinji, Funato, Michinori, Kuru, Satoshi, Nakayama, Takahiro, Iwata, Yasuyuki, Yajima, Hiroyuki, Takeda, Shin’ichi
Publicado 2020

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

por Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Publicado 2020

Ziziphus mucronata Willd. (Rhamnaceae): it's botany, toxicity, phytochemistry and pharmacological activities

por Mongalo, N.I., Mashele, S.S., Makhafola, T.J.
Publicado 2020

Prognosis and risk factors for reocclusion after mechanical thrombectomy

por Li, Weili, Ding, Jiayue, Sui, Xueqin, Qi, Zhifeng, Wu, Longfei, Sun, Chenghe, Ji, Kangxiang, Ma, Qingfeng, Ji, Xunming, Liu, Ke Jian
Publicado 2020

Phase I clinical trial of temsirolimus and perifosine for recurrent glioblastoma

por Kaley, Thomas J., Panageas, Katherine S., Pentsova, Elena I., Mellinghoff, Ingo K., Nolan, Craig, Gavrilovic, Igor, DeAngelis, Lisa M., Abrey, Lauren E., Holland, Eric C., Omuro, Antonio, Lacouture, Mario E., Ludwig, Emmy, Lassman, Andrew B.
Publicado 2020

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

por Chou, Cheng‐Ta, Soong, Bing‐Wen, Lin, Kon‐Ping, Tsai, Yu‐Shuen, Jih, Kang‐Yang, Liao, Yi‐Chu, Lee, Yi‐Chung
Publicado 2020

Brain amyloid, cortical thickness, and changes in activities of daily living

por Vassilaki, Maria, Aakre, Jeremiah A., Kremers, Walter K., Lesnick, Timothy G., Mielke, Michelle M., Geda, Yonas E., Machulda, Mary M., Knopman, David S., Butler, Lesley, Traber, Martin, Vemuri, Prashanthi, Lowe, Val J., Jack, Clifford R., Roberts, Rosebud O., Petersen, Ronald C.
Publicado 2020