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

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C

N-乙酰-L-亮氨酸对成人和儿童尼曼-匹克病C型患者的疾病改善和神经保护作用

Patterson, Marc C; Ramaswami, Uma; Donald, Aimee; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon A; Kay, Richard; Kolniková, Miriam; Park, Julien; Reichmannová, Stella; Walterfang, Mark; Wibawa, Pierre; Rohrbach, Marianne; Martakis, Kyriakos; Bremova-Ertl, Tatiana

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis

脉络丛在尼曼-匹克病C型神经发病机制中的作用

van Gool, Raquel; Cay, Mariesa; Ren, Boyu; Brodeur, Kailey; Golden, Emma; Goodlett, Benjamin; Yang, Edward; Reilly, Tom; Hastings, Caroline; Berry-Kravis, Elizabeth M; Lee, Pui Y; Di Biase, Maria; Cropley, Vanessa; Pantelis, Christos; Velakoulis, Dennis; Shinn, Ann K; Al-Hertani, Walla; Walterfang, Mark; Upadhyay, Jaymin

Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease

戈谢病患者的细胞毒性淋巴细胞效应功能不受影响。

Jinyun Zou ,Tahereh Noori ,Mark Walterfang ,Jeff Szer ,Joseph A Trapani ,Ilia Voskoboinik

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C

成人尼曼-匹克病C型患者的全脑结构连接特征

Reilly, Thomas C; Di Biase, Maria A; Mansour, Sina; Seguin, Caio; Cropley, Vanessa L; Velakoulis, Dennis; Zalesky, Andrew; Pantelis, Christos; Walterfang, Mark

Blood biomarker profiles in young-onset neurocognitive disorders: A cohort study

早发性神经认知障碍患者的血液生物标志物谱:一项队列研究

Bhalala, Oneil G; Beamish, Jessica; Eratne, Dhamidhu; Summerell, Patrick; Porter, Tenielle; Laws, Simon M; Kang, Matthew Jy; Huq, Aamira J; Chiu, Wei-Hsuan; Cadwallader, Claire; Walterfang, Mark; Farrand, Sarah; Evans, Andrew H; Kelso, Wendy; Churilov, Leonid; Watson, Rosie; Yassi, Nawaf; Velakoulis, Dennis; Loi, Samantha M

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

NPC的杂合性可能与神经系统和全身表型相关。

Brémovà-Ertl, Tatiana; Tahirovic, Sabina; Katušić Hećimović, Silva; Martakis, Kyriakos; Rohrbach, Marianne; Gautschi, Matthias; Dhamija, Radhika; Ganesh, Jaya; Peters, Melinda; Walterfang, Mark; Schneider, Susanne A

Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting

在临床环境中,血浆和脑脊液神经丝轻链可区分神经退行性疾病和原发性精神疾病。

Eratne, Dhamidhu; Kang, Matthew J Y; Lewis, Courtney; Dang, Christa; Malpas, Charles B; Keem, Michael; Grewal, Jasleen; Marinov, Vladimir; Coe, Amy; Kaylor-Hughes, Cath; Borchard, Thomas; Keng-Hong, Chhoa; Waxmann, Alexandra; Saglam, Burcu; Kalincik, Tomas; Kanaan, Richard; Kelso, Wendy; Evans, Andrew; Farrand, Sarah; Loi, Samantha; Walterfang, Mark; Stehmann, Christiane; Li, Qiao-Xin; Collins, Steven; Masters, Colin L; Santillo, Alexander F; Zetterberg, Henrik; Blennow, Kaj; Berkovic, Samuel F; Velakoulis, Dennis

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏症诊断和治疗共识指南

Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L

AT(N), neuronal and glial pathologies underlying neuropsychiatric symptoms and cognition in young‐onset dementia

AT(N)、神经元和胶质病理是早发性痴呆症中神经精神症状和认知障碍的潜在原因

O'Connor, Roisin M; Colder, Craig R; Rundle, Melissa M; Ma, Da; Alphin, Kathryn H; Bateman, Trey R; Hughes, Timothy M; Sai, Kiran K Solingapuram; Craft, Suzanne; Rudolph, Marc D; Alokley, Alia; Vargas‐González, Juan‐Camilo; Alotibi, Hessah A; Dimal, Nico Paulo; Ingelsson, Martin; Tang‐Wai, David F; Tartaglia, Carmela; Rundle, Melissa M; Ma, Da; Alphin, Kathryn H; Bateman, Trey R; Hughes, Timothy M; Sai, Kiran K Solingapuram; Craft, Suzanne; Rudolph, Marc D; Chiu, Wei‐Hsuan; Goh, Anita M Y; Malpas, Charles B; Eratne, Dhamidhu; Kelso, Wendy; Walterfang, Mark; Velakoulis, Dennis; Loi, Samantha M

Investigating Equivalence of In-Person and Telehealth-Based Neuropsychological Assessment Performance for Individuals Being Investigated for Younger Onset Dementia

调查针对早发性痴呆症患者的面对面和远程医疗神经心理学评估表现的等效性

Brown, Aimee D; Kelso, Wendy; Eratne, Dhamidhu; Loi, Samantha M; Farrand, Sarah; Summerell, Patrick; Neath, Joanna; Walterfang, Mark; Velakoulis, Dennis; Stolwyk, Renerus J