A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson's disease

por Aerts, Marjolein B., Weterman, Marian A. J., Quadri, Marialuisa, Schelhaas, H. Jurgen, Bloem, Bastiaan R., Esselink, Rianne A., Baas, Frank, Bonifati, Vincenzo, van de Warrenburg, Bart P.
Publicado 2015

Progressive multifocal leukoencephalopathy in an immunocompetent patient

por van der Kolk, Nicolien M., Arts, Peer, van Uden, Ingeborg W. M., Hoischen, Alexander, van de Veerdonk, Frank L., Netea, Mihai G., de Jong, Brigit A.
Publicado 2016

Antioxidants inhibit neuronal toxicity in Parkinson's disease‐linked LRRK2

por Angeles, Dario C., Ho, Patrick, Dymock, Brian W., Lim, Kah‐Leong, Zhou, Zhi‐Dong, Tan, Eng‐King
Publicado 2016

α5GABA(A) receptor deficiency causes autism‐like behaviors

por Zurek, Agnieszka A., Kemp, Stephen W. P., Aga, Zeenia, Walker, Susan, Milenkovic, Marija, Ramsey, Amy J., Sibille, Etienne, Scherer, Stephen W., Orser, Beverley A.
Publicado 2016

Plasma neuronal exosomal levels of Alzheimer's disease biomarkers in normal aging

por Abner, Erin L., Jicha, Gregory A., Shaw, Leslie M., Trojanowski, John Q., Goetzl, Edward J.
Publicado 2016

Reversal of phantom pain and hand‐to‐face remapping after brachial plexus avulsion

por Tsao, Jack W., Finn, Sacha B., Miller, Matthew E.
Publicado 2016

Neonatal Fc receptor promoter gene polymorphism does not predict pharmacokinetics of IVIg or the clinical course of GBS

por Fokkink, Willem‐Jan R., Haarman, Annechien E. G., Tio‐Gillen, Anne P., van Rijs, Wouter, Huizinga, Ruth, van Doorn, Pieter A., Jacobs, Bart C.
Publicado 2016

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

por Roda, Ricardo H., FitzGibbon, Edmond J., Boucekkine, Houda, Schindler, Alice B., Blackstone, Craig
Publicado 2016

Respiratory training in an individual with amyotrophic lateral sclerosis

por Tabor, Lauren C., Rosado, Karen M., Robison, Raele, Hegland, Karen, Humbert, Ianessa A., Plowman, Emily K.
Publicado 2016

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

por Lozic, Bernarda, Johansson, Stefan, Lovric Kojundzic, Sanja, Markic, Josko, Knappskog, Per Morten, Hahn, Angelika F., Boman, Helge
Publicado 2016

Degenerative Ataxias: challenges in clinical research

por Subramony, Sub H.
Publicado 2016

Onset of secondary progressive MS after long‐term rituximab therapy – a case report

por von Büdingen, H.‐Christian, Bischof, Antje, Eggers, Erica L., Wang, Shengzhi, Bevan, Carolyn J., Cree, Bruce A. C., Henry, Roland G., Hauser, Stephen L.
Publicado 2016

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

por Gaur, Lasya, Hanna, Alexander, Bandettini, W. Patricia, Fischbeck, Kenneth H., Arai, Andrew E., Mankodi, Ami
Publicado 2016

[(18)F]AV‐1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation

por Bevan Jones, W. Richard, Cope, Thomas E., Passamonti, Luca, Fryer, Tim D., Hong, Young T., Aigbirhio, Franklin, Kril, Jillian J., Forrest, Shelley L., Allinson, Kieren, Coles, Jonathan P., Simon Jones, P., Spillantini, Maria G., Hodges, John R., O'Brien, John T., Rowe, James B.
Publicado 2016

Impact of tau and amyloid burden on glucose metabolism in Alzheimer's disease

por Bischof, Gérard N., Jessen, Frank, Fliessbach, Klaus, Dronse, Julian, Hammes, Jochen, Neumaier, Bernd, Onur, Oezguer, Fink, Gereon R., Kukolja, Juraj, Drzezga, Alexander, van Eimeren, Thilo
Publicado 2016

Extended and direct evaluation of RT‐QuIC assays for Creutzfeldt‐Jakob disease diagnosis

por Groveman, Bradley R., Orrú, Christina D., Hughson, Andrew G., Bongianni, Matilde, Fiorini, Michele, Imperiale, Daniele, Ladogana, Anna, Pocchiari, Maurizio, Zanusso, Gianluigi, Caughey, Byron
Publicado 2016

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

por Lee, Kristin, Ernst, Thomas, Løhaugen, Gro, Zhang, Xin, Chang, Linda
Publicado 2017

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

por Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Publicado 2017

Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH

por Sato, Naoko Saito, Maekawa, Risa, Ishiura, Hiroyuki, Mitsui, Jun, Naruse, Hiroya, Tokushige, Shin‐ichi, Sugie, Kazuma, Tate, Genshu, Shimizu, Jun, Goto, Jun, Tsuji, Shoji, Shiio, Yasushi
Publicado 2017

Immune and myodegenerative pathomechanisms in inclusion body myositis

por Keller, Christian W., Schmidt, Jens, Lünemann, Jan D.
Publicado 2017