Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker

por Goyal, Namita A., Mozaffar, Tahseen
Publicado 2015

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance

por Niu, Qi, Wang, Xingxia, Shi, Mingchao, Jin, Qingwen
Publicado 2015

Next-generation sequencing still needs our generation's clinicians

por Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.
Publicado 2015

Posterior reversible encephalopathy syndrome is not associated with mutations in aquaporin-4

por Matiello, Marcelo, Muralidharan, Rajanandini, Sun, David, Rabinstein, Alejandro A., Weinshenker, Brian G.
Publicado 2015

Epileptic spasms are a feature of DEPDC5 mTORopathy

por Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Publicado 2015

Late-onset Alzheimer disease risk variants mark brain regulatory loci

por Allen, Mariet, Kachadoorian, Michaela, Carrasquillo, Minerva M., Karhade, Aditya, Manly, Lester, Burgess, Jeremy D., Wang, Chen, Serie, Daniel, Wang, Xue, Siuda, Joanna, Zou, Fanggeng, Chai, High Seng, Younkin, Curtis, Crook, Julia, Medway, Christopher, Nguyen, Thuy, Ma, Li, Malphrus, Kimberly, Lincoln, Sarah, Petersen, Ronald C., Graff-Radford, Neill R., Asmann, Yan W., Dickson, Dennis W., Younkin, Steven G., Ertekin-Taner, Nilüfer
Publicado 2015

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

por Tian, Xia, Liang, Wen-Chen, Feng, Yanming, Wang, Jing, Zhang, Victor Wei, Chou, Chih-Hung, Huang, Hsien-Da, Lam, Ching Wan, Hsu, Ya-Yun, Lin, Thy-Sheng, Chen, Wan-Tzu, Wong, Lee-Jun, Jong, Yuh-Jyh
Publicado 2015

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

por Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Publicado 2015

GYG1 gene mutations in a family with polyglucosan body myopathy

por Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Publicado 2015

Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

por Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli
Publicado 2015

Spinocerebellar ataxia type 10 in Chinese Han

por Wang, Kang, McFarland, Karen N., Liu, Jilin, Zeng, Desmond, Landrian, Ivette, Xia, Guangbin, Hao, Ying, Jin, Miao, Mulligan, Connie J., Gu, Weihong, Ashizawa, Tetsuo
Publicado 2015

Dyslexia susceptibility genes influence brain atrophy in frontotemporal dementia

por Paternicó, Donata, Premi, Enrico, Alberici, Antonella, Archetti, Silvana, Bonomi, Elisa, Gualeni, Vera, Gasparotti, Roberto, Padovani, Alessandro, Borroni, Barbara
Publicado 2015

Alzheimer risk genes modulate the relationship between plasma apoE and cortical PiB binding

por Lazaris, Andreas, Hwang, Kristy S., Goukasian, Naira, Ramirez, Leslie M., Eastman, Jennifer, Blanken, Anna E., Teng, Edmond, Gylys, Karen, Cole, Greg, Saykin, Andrew J., Shaw, Leslie M., Trojanowski, John Q., Jagust, William J., Weiner, Michael W., Apostolova, Liana G.
Publicado 2015

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation

por Izumi, Rumiko, Warita, Hitoshi, Niihori, Tetsuya, Takahashi, Toshiaki, Tateyama, Maki, Suzuki, Naoki, Nishiyama, Ayumi, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Mitsuhashi, Satomi, Nishino, Ichizo, Aoki, Yoko, Aoki, Masashi
Publicado 2015

Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey

por Johnson, Nicholas E.
Publicado 2015

Is PARKIN parkinsonism a cancer predisposition syndrome?

por Schüle, Birgitt, Byrne, Christie, Rees, Linda, Langston, J. William
Publicado 2015

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation

por Nascimento, Fábio A., Borlot, Felippe, Cossette, Patrick, Minassian, Berge A., Andrade, Danielle M.
Publicado 2015

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

por Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
Publicado 2015

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies

por Shieh, Christine, Moser, Franklin, Graham, John M., Watiker, Valerie, Pierson, Tyler Mark
Publicado 2015

Milder forms of muscular dystrophy associated with POMGNT2 mutations

por Endo, Yukari, Dong, Mingrui, Noguchi, Satoru, Ogawa, Megumu, Hayashi, Yukiko K., Kuru, Satoshi, Sugiyama, Kenji, Nagai, Shigehiro, Ozasa, Shiro, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2015