日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Rizatriptan vs Placebo for Attacks of Vestibular Migraine: A Randomized Clinical Trial

利扎曲坦与安慰剂治疗前庭性偏头痛发作的随机临床试验

Staab, Jeffrey P; Eggers, Scott D Z; Jen, Joanna C; LeMahieu, Allison M; Geske, Jennifer R; Liu, Honghu; Hofschulte, Deanna R; Gonzalez, G Roxana; Neff, Brian A; Shepard, Neil T; McCaslin, Devin L; Baloh, Robert W

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease

一个与早发性阿尔茨海默病相关的PSEN1杂合功能缺失变异体的奇特案例

Sanjuan-Ruiz, Inmaculada; Serneels, Lutgarde; Craessaerts, Katleen; Goate, Alison; Annaert, Wim; Chávez-Gutiérrez, Lucía; Shi, Yonggang; Sheikh-Bahaei, Nasim; Jen, Joanna C; Ramos, Eliana Marisa; Campan, Mihaela; Ward, Pamela M; Magaki, Shino; Bartlone, Kelly; Vinters, Harry V; Craig, David W; Ringman, John M; De Strooper, Bart

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.

与早发性阿尔茨海默病相关的杂合功能丧失型PSEN1变异体的奇特案例

Ruiz Inmaculada Sanjuan, Serneels Lutgarde, Craessaerts Katleen, Goate Alison, Annaert Wim, Gutierrez Lucia Chavez, Shi Yonggang, Sheikh-Bahaei Nasim, Jen Joanna C, Ramos Eliana Marisa, Campan Mihaela, Ward Pamela M, Magaki Shino, Bartlone Kelly, Vinters Harry V, Craig David W, Ringman John M, Strooper Bart

Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy

RVCL-S中的病变演变和神经退行性变:一种单基因微血管病

Ford, Andria L; Chin, Victoria W; Fellah, Slim; Binkley, Michael M; Bodin, Allie M; Balasetti, Vamshi; Taiwo, Yewande; Kang, Peter; Lin, Doris; Jen, Joanna C; Grand, M Gilbert; Bogacki, Madonna; Liszewski, M Kathryn; Hourcade, Dennis; Chen, Yasheng; Hassenstab, Jason; Lee, Jin-Moo; An, Hongyu; Miner, Jonathan J; Atkinson, John P

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

一种新的PUS7基因突变会导致智力障碍,并伴有自闭症和攻击性行为。

Darvish, Hossein; Azcona, Luis J; Alehabib, Elham; Jamali, Faezeh; Tafakhori, Abbas; Ranji-Burachaloo, Sakineh; Jen, Joanna C; Paisán-Ruiz, Coro

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

视网膜血管病变伴脑白质脑病和全身表现

Stam, Anine H; Kothari, Parul H; Shaikh, Aisha; Gschwendter, Andreas; Jen, Joanna C; Hodgkinson, Suzanne; Hardy, Todd A; Hayes, Michael; Kempster, Peter A; Kotschet, Katya E; Bajema, Ingeborg M; van Duinen, Sjoerd G; Maat-Schieman, Marion L C; de Jong, Paulus T V M; de Smet, Marc D; de Wolff-Rouendaal, Didi; Dijkman, Greet; Pelzer, Nadine; Kolar, Grant R; Schmidt, Robert E; Lacey, JoAnne; Joseph, Daniel; Fintak, David R; Grand, M Gilbert; Brunt, Elizabeth M; Liapis, Helen; Hajj-Ali, Rula A; Kruit, Mark C; van Buchem, Mark A; Dichgans, Martin; Frants, Rune R; van den Maagdenberg, Arn M J M; Haan, Joost; Baloh, Robert W; Atkinson, John P; Terwindt, Gisela M; Ferrari, Michel D

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

XPR1基因突变会导致原发性家族性脑钙化,并伴有磷酸盐输出改变

Legati Andrea, Giovannini Donatella, Nicolas Gaël, López-Sánchez Uriel, Quintáns Beatriz, Oliveira João R M, Sears Renee L, Ramos Eliana Marisa, Spiteri Elizabeth, Sobrido María-Jesús, Carracedo Ángel, Castro-Fernández Cristina, Cubizolle Stéphanie, Fogel Brent L, Goizet Cyril, Jen Joanna C, Kirdlarp Suppachok, Lang Anthony E, Miedzybrodzka Zosia, Mitarnun Witoon, Paucar Martin, Paulson Henry, Pariente Jérémie, Richard Anne-Claire, Salins Naomi S, Simpson Sheila A, Striano Pasquale, Svenningsson Per, Tison François, Unni Vivek K, Vanakker Olivier, Wessels Marja W, Wetchaphanphesat Suppachok, Yang Michele, Boller Francois, Campion Dominique, Hannequin Didier, Sitbon Marc, Geschwind Daniel H, Battini Jean-Luc, Coppola Giovanni

Neuropathology and genetics of cerebroretinal vasculopathies

脑视网膜血管病的神经病理学和遗传学

Kolar, Grant R; Kothari, Parul H; Khanlou, Negar; Jen, Joanna C; Schmidt, Robert E; Vinters, Harry V

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

SLC20A2基因突变是家族性特发性基底节钙化的主要原因。

Hsu, Sandy Chan; Sears, Renee L; Lemos, Roberta R; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D; Fullerton, Janice M; Adair, John C; Berner, Jon E; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E; Linglart, Agnès; Maisenbacher, Melissa K; Manyam, Bala V; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R; de Oliveira, João R M; Sobrido, María-Jesús; Geschwind, Daniel H; Coppola, Giovanni