Brain histopathological study and prognosis in MOG antibody‐associated demyelinating pseudotumor

por Shu, Yaqing, Long, Youming, Wang, Shisi, Hu, Wanming, Zhou, Jian, Xu, Huiming, Chen, Chen, Ou, Yangmei, Lu, Zhengqi, Lau, Alexander Y., Yu, Xinhua, Kermode, Allan G., Qiu, Wei
Publicado 2019

Longitudinal advanced MRI case report of white matter radiation necrosis

por Wiggermann, Vanessa, Lapointe, Emmanuelle, Litvin, Ludmila, Graf, Carina, Hernández‐Torres, Enedino, McKenzie, Michael, Vavasour, Irene M., Laule, Cornelia, MacMillan, Erin L., Li, David K. B., Kolind, Shannon H., Rauscher, Alexander, Traboulsee, Anthony L.
Publicado 2018

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

por Alkhater, Reem A., Wang, Peixiang, Ruggieri, Alessandra, Israelian, Lori, Walker, Susan, Scherer, Stephen W., Smith, Mary Lou, Minassian, Berge A.
Publicado 2019

Clinical significance of soluble adhesion molecules in anti‐NMDAR encephalitis patients

por Ding, Yuewen, Yang, Chengjia, Zhou, Zheyi, Peng, Yu, Chen, Jinyu, Pan, Suyue, Xu, Hong, Cai, Yuping, Ou, Kaiyun, Xie, Wei, Wang, Honghao
Publicado 2019

Scn1b deletion in adult mice results in seizures and SUDEP

por O'Malley, Heather A., Hull, Jacob M., Clawson, Brittany C., Chen, Chunling, Owens‐Fiestan, Gic, Jameson, Margaret B., Aton, Sara J., Parent, Jack M., Isom, Lori L.
Publicado 2019

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

por Lee, Wei Shern, Stephenson, Sarah E. M., Howell, Katherine B., Pope, Kate, Gillies, Greta, Wray, Alison, Maixner, Wirginia, Mandelstam, Simone A., Berkovic, Samuel F., Scheffer, Ingrid E., MacGregor, Duncan, Harvey, Anthony Simon, Lockhart, Paul J., Leventer, Richard J.
Publicado 2019

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

por Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy
Publicado 2019

Therapeutic strategies for glucose transporter 1 deficiency syndrome

por Tang, Maoxue, Park, Sarah H., De Vivo, Darryl C., Monani, Umrao R.
Publicado 2019

Biomarkers for REM sleep behavior disorder in idiopathic and narcoleptic patients

por Antelmi, Elena, Pizza, Fabio, Donadio, Vincenzo, Filardi, Marco, Sosero, Yuri L., Incensi, Alex, Vandi, Stefano, Moresco, Monica, Ferri, Raffaele, Marelli, Sara, Ferini‐Strambi, Luigi, Liguori, Rocco, Plazzi, Giuseppe
Publicado 2019

Environmental and genetic risk factors for MS: an integrated review

por Waubant, Emmanuelle, Lucas, Robyn, Mowry, Ellen, Graves, Jennifer, Olsson, Tomas, Alfredsson, Lars, Langer‐Gould, Annette
Publicado 2019

Clinical outcome measures following plasma exchange for MG exacerbation

por Raja, Shruti M., Howard, James F., Juel, Vern C., Massey, Janice M., Chopra, Manisha, Guptill, Jeffrey T.
Publicado 2019

Diffusion basis spectrum imaging for identifying pathologies in MS subtypes

por Shirani, Afsaneh, Sun, Peng, Trinkaus, Kathryn, Perantie, Dana C., George, Ajit, Naismith, Robert T., Schmidt, Robert E., Song, Sheng‐Kwei, Cross, Anne H.
Publicado 2019

MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease

por Ishikawa, Hidehiro, Shindo, Akihiro, Ii, Yuichiro, Kishida, Dai, Niwa, Atsushi, Nishiguchi, Yamato, Matsuura, Keita, Kato, Natsuko, Mizutani, Akane, Tachibana, Kei, Hirata, Yoshinori, Matsuyama, Hirofumi, Ogawa‐Ito, Ai, Taniguchi, Akira, Tomimoto, Hidekazu
Publicado 2019

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

por Wang, Youjin, Best, Ana, Fernández‐Torrón, Roberto, Alsaggaf, Rotana, Garcia‐Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone’t, Matheu Fernandez, Ander, Zulaica Ijurco, Miren, Greene, Mark H., Lopez de Munain, Adolfo, Gadalla, Shahinaz M.
Publicado 2019

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

por Carreau, Christophe, Lenglet, Timothée, Mosnier, Isabelle, Lahlou, Ghizlene, Fargeot, Guillaume, Weiss, Nicolas, Demeret, Sophie, Salachas, François, Veauville‐Merllié, Alice, Acquaviva, Cécile, Nadjar, Yann
Publicado 2020

Expanding the clinical and genetic heterogeneity of SPAX5

por Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Publicado 2020

Expansion of the genetic landscape of ERLIN2‐related disorders

por Srivastava, Siddharth, D’Amore, Angelica, Cohen, Julie S., Swanson, Lindsay C., Ricca, Ivana, Pini, Antonella, Fatemi, Ali, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Publicado 2020

A novel de novo RNF216 mutation associated with autosomal recessive Huntington‐like disorder

por Chen, Ke‐Liang, Zhao, Gui‐Xian, Wang, He, Wei, Lei, Huang, Yu‐Yuan, Chen, Shi‐Dong, Lin, Bi‐Ying, Dong, Qiang, Cui, Mei, Yu, Jin‐Tai
Publicado 2020

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

por Ronchi, Dario, Monfrini, Edoardo, Bonato, Sara, Mancinelli, Veronica, Cinnante, Claudia, Salani, Sabrina, Bordoni, Andreina, Ciscato, Patrizia, Fortunato, Francesco, Villa, Marianna, Di Fonzo, Alessio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Publicado 2020

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

por Crippa, Milena, Malatesta, Paola, Bonati, Maria Teresa, Trapasso, Francesco, Fortunato, Francesco, Annesi, Grazia, Larizza, Lidia, Labate, Angelo, Finelli, Palma, Perrotti, Nicola, Gambardella, Antonio
Publicado 2020