Impaired phonemic discrimination in logopenic variant primary progressive aphasia

por Johnson, Jeremy C. S., Jiang, Jessica, Bond, Rebecca L., Benhamou, Elia, Requena‐Komuro, Maï‐Carmen, Russell, Lucy L., Greaves, Caroline, Nelson, Annabel, Sivasathiaseelan, Harri, Marshall, Charles R., Volkmer, Anna P., Rohrer, Jonathan D., Warren, Jason D., Hardy, Chris J. D.
Publicado 2020

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

por Helbig, Ingo, Barcia, Giulia, Pendziwiat, Manuela, Ganesan, Shiva, Mueller, Stefanie H., Helbig, Katherine L., Vaidiswaran, Priya, Xian, Julie, Galer, Peter D., Afawi, Zaid, Specchio, Nicola, Kluger, Gerhard, Kuhlenbäumer, Gregor, Appenzeller, Silke, Wittig, Michael, Kramer, Uri, van Baalen, Andreas, Nabbout, Rima
Publicado 2020

Severe neurological crisis in adult patients with Tyrosinemia type 1

por Dawson, Charlotte, Ramachandran, Radha, Safdar, Samreen, Murphy, Elaine, Swayne, Orlando, Katz, Jonathan, Newsome, Philip N., Geberhiwot, Tarekegn
Publicado 2020

Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases

por Horisawa, Shiro, Azuma, Kenkou, Akagawa, Hiroyuki, Nonaka, Taku, Kawamata, Takakazu, Taira, Takaomi
Publicado 2020

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

por Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Publicado 2020

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

por Ruggiero, Lucia, Iovino, Aniello, Dubbioso, Raffaele, Cocozza, Sirio, Trovato, Rosanna, Aruta, Francesco, Pontillo, Giuseppe, Barghigiani, Melissa, Brunetti, Arturo, Santorelli, Filippo Maria, Manganelli, Fiore, Iodice, Rosa
Publicado 2020

Novel NUDT2 variant causes intellectual disability and polyneuropathy

por Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Publicado 2020

Ante‐ and postmortem tau in autosomal dominant and late‐onset Alzheimer’s disease

por Chen, Charles D., Holden, Timothy R., Gordon, Brian A., Franklin, Erin E., Li, Yan, Coble, Dean W., Luo, Hongbo, Bateman, Randall J., Ances, Beau M., Perrin, Richard J., Benzinger, Tammie L. S., Cairns, Nigel J., Morris, John C.
Publicado 2020

230 days of ultra long‐term subcutaneous EEG: seizure cycle analysis and comparison to patient diary

por Viana, Pedro F., Duun‐Henriksen, Jonas, Glasstëter, Martin, Dümpelmann, Matthias, Nurse, Ewan S., Martins, Isabel P., Dumanis, Sonya B., Schulze‐Bonhage, Andreas, Freestone, Dean R., Brinkmann, Benjamin H., Richardson, Mark P.
Publicado 2020

Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease

por Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Publicado 2020

Flortaucipir (tau) PET in LGI1 antibody encephalitis

por Day, Gregory S., Gordon, Brian A., McCullough, Austin, Bucelli, Robert C., Perrin, Richard J., Benzinger, Tammie L. S., Ances, Beau M.
Publicado 2021

Safety evaluation of shorter infusion for ocrelizumab in a substudy of the Phase IIIb CHORDS trial

por Bermel, Robert A., Waubant, Emmanuelle, Pardo, Gabriel, Bass, Ann, Repovic, Pavle, Newsome, Scott, Lindsey, John W., Kile, Deidre, Pradhan, Ashish, Musch, Bruno, Zabeti, Aram
Publicado 2021

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

por Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa
Publicado 2021

Responsive neurostimulation for focal motor status epilepticus

por Yang, Jimmy C., Harid, Nitish M., Nascimento, Fábio A., Kokkinos, Vasileios, Shaughnessy, Abigail, Lam, Alice D., Westover, M. Brandon, Leslie‐Mazwi, Thabele M., Hochberg, Leigh R., Rosenthal, Eric S., Cole, Andrew J., Richardson, Robert M., Cash, Sydney S.
Publicado 2021

No strong HLA association with MOG antibody disease in the UK population

por Grant‐Peters, Melissa, Passos, Giordani Rodrigues Dos, Yeung, Hing‐Yuen, Jacob, Anu, Huda, Saif, Leite, Maria Isabel, Dendrou, Calliope A., Palace, Jacqueline
Publicado 2021

Diaphragm dysfunction in severe COVID‐19 as determined by neuromuscular ultrasound

por Farr, Ellen, Wolfe, Alexis R., Deshmukh, Swati, Rydberg, Leslie, Soriano, Rachna, Walter, James M., Boon, Andrea J., Wolfe, Lisa F., Franz, Colin K.
Publicado 2021

Evaluation of peripherin in biofluids of patients with motor neuron diseases

por Sabbatini, Daniele, Raggi, Flavia, Ruggero, Susanna, Seguso, Mara, Mandrioli, Jessica, Cagnin, Annachiara, Briani, Chiara, Toffanin, Elisabetta, Gizzi, Matteo, Fortuna, Andrea, Bello, Luca, Pegoraro, Elena, Musso, Giulia, Sorarù, Gianni
Publicado 2021

Longitudinal change in TSPO PET imaging in progressive multiple sclerosis

por Kang, Yeona, Pandya, Sneha, Zinger, Nicole, Michaelson, Nara, Gauthier, Susan A.
Publicado 2021

Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

por Towheed, Atif, Hietanen, Christian L., Kamath, Vasudeva G., Singh, Larry N., Ho, Angela, Engelstad, Kristin, Cornett, Kayla, Montes, Jacqueline, De Vivo, Darryl
Publicado 2021

Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice

por Frederick, Natalie M., Pooler, Morgan M., Shah, Parth, Didonna, Alessandro, Opal, Puneet
Publicado 2021