Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

por Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Kameyama, Shigeki, Matsumoto, Naomichi
Publicado 2016

Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease

por Davidson, Cristin D., Fishman, Yonatan I., Puskás, István, Szemán, Julianna, Sohajda, Tamás, McCauliff, Leslie A., Sikora, Jakub, Storch, Judith, Vanier, Marie T., Szente, Lajos, Walkley, Steven U., Dobrenis, Kostantin
Publicado 2016

Compromised fidelity of B‐cell tolerance checkpoints in AChR and MuSK myasthenia gravis

por Lee, Jae‐Yun, Stathopoulos, Panos, Gupta, Sasha, Bannock, Jason M., Barohn, Richard J., Cotzomi, Elizabeth, Dimachkie, Mazen M., Jacobson, Leslie, Lee, Casey S., Morbach, Henner, Querol, Luis, Shan, Jing‐Li, Vander Heiden, Jason A., Waters, Patrick, Vincent, Angela, Nowak, Richard J., O'Connor, Kevin C.
Publicado 2016

Predictors of time to initiation of symptomatic therapy in early Parkinson's disease

por Simuni, Tanya, Long, Jeffrey D., Caspell‐Garcia, Chelsea, Coffey, Christopher S., Lasch, Shirley, Tanner, Caroline M., Jennings, Danna, Kieburtz, Karl D., Marek, Kenneth
Publicado 2016

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia

por Bhalla, Angela D., Khodadadi‐Jamayran, Alireza, Li, Yanjie, Lynch, David R., Napierala, Marek
Publicado 2016

Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy

por Hijikata, Yasuhiro, Katsuno, Masahisa, Suzuki, Keisuke, Hashizume, Atsushi, Araki, Amane, Yamada, Shinichiro, Inagaki, Tomonori, Iida, Madoka, Noda, Seiya, Nakanishi, Hirotaka, Banno, Haruhiko, Mano, Tomoo, Hirakawa, Akihiro, Adachi, Hiroaki, Watanabe, Hirohisa, Yamamoto, Masahiko, Sobue, Gen
Publicado 2016

Metabotropic glutamate receptor 5: a target for migraine therapy

por Waung, Maggie W., Akerman, Simon, Wakefield, Mark, Keywood, Charlotte, Goadsby, Peter J.
Publicado 2016

Cognition in Friedreich's ataxia: a behavioral and multimodal imaging study

por Dogan, Imis, Tinnemann, Eugenie, Romanzetti, Sandro, Mirzazade, Shahram, Costa, Ana S., Werner, Cornelius J., Heim, Stefan, Fedosov, Kathrin, Schulz, Stefanie, Timmann, Dagmar, Giordano, Ilaria A., Klockgether, Thomas, Schulz, Jörg B., Reetz, Kathrin
Publicado 2016

α‐synuclein conformational antibodies fused to penetratin are effective in models of Lewy body disease

por Spencer, Brian, Williams, Stephanie, Rockenstein, Edward, Valera, Elvira, Xin, Wei, Mante, Michael, Florio, Jazmin, Adame, Anthony, Masliah, Eliezer, Sierks, Michael R.
Publicado 2016

Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans

por Ehaideb, Salleh N., Wignall, Elizabeth A., Kasuya, Junko, Evans, William H., Iyengar, Atulya, Koerselman, Haley L., Lilienthal, Anthony J., Bassuk, Alexander G., Kitamoto, Toshihiro, Manak, J. Robert
Publicado 2016

Diagnostic utility of ASL‐MRI and FDG‐PET in the behavioral variant of FTD and AD

por Tosun, Duygu, Schuff, Norbert, Rabinovici, Gil D., Ayakta, Nagehan, Miller, Bruce L., Jagust, William, Kramer, Joel, Weiner, Michael M., Rosen, Howard J.
Publicado 2016

α CAR IGF‐1 vector targeting of motor neurons ameliorates disease progression in ALS mice

por Eleftheriadou, Ioanna, Manolaras, Ioannis, Irvine, Elaine E., Dieringer, Michael, Trabalza, Antonio, Mazarakis, Nicholas D.
Publicado 2016

Dysregulation of protein phosphatase 2A in parkinson disease and dementia with lewy bodies

por Park, Hye‐Jin, Lee, Kang‐Woo, Park, Eun S., Oh, Stephanie, Yan, Run, Zhang, Jie, Beach, Thomas G., Adler, Charles H., Voronkov, Michael, Braithwaite, Steven P., Stock, Jeffry B., Mouradian, M. Maral
Publicado 2016

Longitudinal profile of iron accumulation in good‐grade subarachnoid hemorrhage

por Scherfler, Christoph, Schiefecker, Alois Josef, Delazer, Margarete, Beer, Ronny, Bodner, Thomas, Spinka, Georg, Kofler, Mario, Pfausler, Bettina, Kremser, Christian, Schocke, Michael, Benke, Thomas, Gizewski, Elke R., Schmutzhard, Erich, Helbok, Raimund
Publicado 2016

White matter hyperintensities, incident mild cognitive impairment, and cognitive decline in old age

por Boyle, Patricia A., Yu, Lei, Fleischman, Debra A., Leurgans, Sue, Yang, Jingyun, Wilson, Robert S., Schneider, Julie A., Arvanitakis, Zoe, Arfanakis, Konstantinos, Bennett, David A.
Publicado 2016

Dose‐dependent inhibition of demyelination and microglia activation by IVIG

por Winter, Meike, Baksmeier, Christine, Steckel, Julia, Barman, Sumanta, Malviya, Manish, Harrer‐Kuster, Melanie, Hartung, Hans‐Peter, Goebels, Norbert
Publicado 2016

Unilobar surgery for symptomatic epileptic spasms

por Barba, Carmen, Mai, Roberto, Grisotto, Laura, Gozzo, Francesca, Pellacani, Simona, Tassi, Laura, Francione, Stefano, Giordano, Flavio, Cardinale, Francesco, Guerrini, Renzo
Publicado 2016

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

por Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Publicado 2016

Cortical excitability correlates with seizure control and epilepsy duration in chronic epilepsy

por Pawley, Adam D., Chowdhury, Fahmida A., Tangwiriyasakul, Chayanin, Ceronie, Bryan, Elwes, Robert D. C., Nashef, Lina, Richardson, Mark. P.
Publicado 2017

Dynamic regimes of neocortical activity linked to corticothalamic integrity correlate with outcomes in acute anoxic brain injury after cardiac arrest

por Forgacs, Peter B., Frey, Hans‐Peter, Velazquez, Angela, Thompson, Stephanie, Brodie, Daniel, Moitra, Vivek, Rabani, Leroy, Park, Soojin, Agarwal, Sachin, Falo, Maria Cristina, Schiff, Nicholas D., Claassen, Jan
Publicado 2017