α‐Synuclein RT‐QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies

por Bongianni, Matilde, Ladogana, Anna, Capaldi, Stefano, Klotz, Sigrid, Baiardi, Simone, Cagnin, Annachiara, Perra, Daniela, Fiorini, Michele, Poleggi, Anna, Legname, Giuseppe, Cattaruzza, Tatiana, Janes, Francesco, Tabaton, Massimo, Ghetti, Bernardino, Monaco, Salvatore, Kovacs, Gabor G., Parchi, Piero, Pocchiari, Maurizio, Zanusso, Gianluigi
Publicado 2019

The feasibility of using exoskeletal‐assisted walking with epidural stimulation: a case report study

por Gorgey, Ashraf S., Gill, Satinder, Holman, Matthew E., Davis, John C., Atri, Roozbeh, Bai, Ou, Goetz, Lance, Lester, Denise L., Trainer, Robert, Lavis, Timothy D.
Publicado 2020

Abolishing spontaneous epileptiform activity in human brain tissue through AMPA receptor inhibition

por Wright, Sukhvir K., Wilson, Max A., Walsh, Richard, Lo, William B., Mundil, Nilesh, Agrawal, Shakti, Philip, Sunny, Seri, Stefano, Greenhill, Stuart D., Woodhall, Gavin L.
Publicado 2020

Effect of thalamic deep brain stimulation on swallowing in patients with essential tremor

por Lapa, Sriramya, Claus, Inga, Reitz, Sarah C., Quick‐Weller, Johanna, Sauer, Sonja, Colbow, Sigrid, Nasari, Christiane, Dziewas, Rainer, Kang, Jun‐Suk, Baudrexel, Simon, Warnecke, Tobias
Publicado 2020

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

por Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen
Publicado 2020

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

por Seo, Jieun, Lee, Cho‐Rong, Paeng, Jin Chul, Kwon, Hyun W., Lee, Duckgue, Kim, Soon‐Chan, Han, Jaeseok, Ku, Ja‐Lok, Chae, Jong Hee, Lim, Byung Chan, Choi, Murim
Publicado 2020

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

por Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua
Publicado 2020

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort

por Lai, Yi‐Chen, Muscal, Eyal, Wells, Elizabeth, Shukla, Nikita, Eschbach, Krista, Hyeong Lee, Ki, Kaliakatsos, Marios, Desai, Nevedita, Wickström, Ronny, Viri, Maurizio, Freri, Elena, Granata, Tiziana, Nangia, Srishti, Dilena, Robertino, Brunklaus, Andreas, Wainwright, Mark S., Gorman, Mark P., Stredny, Coral M., Asiri, Abdurhman, Hundallah, Khalid, Doja, Asif, Payne, Eric, Wirrell, Elaine, Koh, Sookyong, Carpenter, Jessica L., Riviello, James
Publicado 2020

The role of bioactive lipids in attenuating the neuroinflammatory cascade in traumatic brain injury

por Poblete, Roy A., Arenas, Marcela, Sanossian, Nerses, Freeman, William D., Louie, Stan G.
Publicado 2020

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

por Lafontaine, Maxime, Lia, Anne‐Sophie, Bourthoumieu, Sylvie, Beauvais‐Dzugan, Hélène, Derouault, Paco, Arné‐Bes, Marie‐Christine, Sarret, Catherine, Laffargue, Fanny, Magot, Armelle, Sturtz, Franck, Magy, Laurent, Magdelaine, Corinne
Publicado 2021

Accelerated long‐term forgetting over three months in asymptomatic APOE ɛ4 carriers

por Tort‐Merino, Adrià, Laine, Matti, Valech, Natalia, Olives, Jaume, León, María, Ecay‐Torres, Mirian, Estanga, Ainara, Martínez‐Lage, Pablo, Fortea, Juan, Sánchez‐Valle, Raquel, Rami, Lorena, Rodríguez‐Fornells, Antoni
Publicado 2020

Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome

por Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael
Publicado 2021

Multiple sclerosis, rituximab, and COVID‐19

por Langer‐Gould, Annette, Smith, Jessica B., Li, Bonnie H.
Publicado 2021

Comparison of Simoa(TM) and Ella(TM) to assess serum neurofilament‐light chain in multiple sclerosis

por Gauthier, Audrey, Viel, Sébastien, Perret, Magali, Brocard, Guillaume, Casey, Romain, Lombard, Christine, Laurent‐Chabalier, Sabine, Debouverie, Marc, Edan, Gilles, Vukusic, Sandra, Lebrun‐Frénay, Christine, De Sèze, Jérôme, Laplaud, David Axel, Castelnovo, Giovanni, Gout, Olivier, Ruet, Aurélie, Moreau, Thibault, Casez, Olivier, Clavelou, Pierre, Berger, Eric, Zephir, Hélène, Trouillet‐Assant, Sophie, Thouvenot, Eric
Publicado 2021

Spinocerebellar ataxia clinical trials: opportunities and challenges

por Brooker, Sarah M., Edamakanti, Chandrakanth Reddy, Akasha, Sara M., Kuo, Sheng‐Han, Opal, Puneet
Publicado 2021

Synaptic density in carriers of C9orf72 mutations: a [(11)C]UCB‐J PET study

por Malpetti, Maura, Holland, Negin, Jones, P. Simon, Ye, Rong, Cope, Thomas E., Fryer, Tim D., Hong, Young T., Savulich, George, Rittman, Timothy, Passamonti, Luca, Mak, Elijah, Aigbirhio, Franklin I., O’Brien, John T., Rowe, James B.
Publicado 2021

Increased systemic HSP70B levels in spinal muscular atrophy infants

por Eichelberger, Eric J., Alves, Christiano R. R., Zhang, Ren, Petrillo, Marco, Cullen, Patrick, Farwell, Wildon, Hurt, Jessica A., Staropoli, John F., Swoboda, Kathryn J.
Publicado 2021

Transcriptomic signature of painful human neurofibromatosis type 2 schwannomas

por Kukutla, Phanidhar, Ahmed, Sherif G., DuBreuil, Daniel M., Abdelnabi, Ahmed, Cetinbas, Murat, Fulci, Giulia, Aldikacti, Berent, Stemmer‐Rachamimov, Anat, Plotkin, Scott R., Wainger, Brian, Sadreyev, Ruslan I., Brenner, Gary J.
Publicado 2021

Novel dominant distal titinopathy phenotype associated with copy number variation

por Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille
Publicado 2021

SORL1 mutation in a Greek family with Parkinson's disease and dementia

por Xiromerisiou, Georgia, Bourinaris, Thomas, Houlden, Henry, Lewis, Patrick A., Senkevich, Konstantin, Hammer, Monia, Federoff, Monica, Khan, Alaa, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Bonstanjopoulou, Sevasti, Fidani, Liana, Ermolaev, Aleksey, Gan‐Or, Ziv, Singleton, Andrew, Vandrovcova, Jana, Hardy, John
Publicado 2021