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

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration

将 Pank2-/- 小鼠视网膜表型表征为泛酸激酶相关神经退行性疾病的临床前模型

Su, Grace Li-Na; Jeong, Suh Young; Wafai, Dahlia; Tschetter, Wayne; Zhen, Dolly; Hayflick, Susan J; Ryals, Renee C

Consensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN)

PLA2G6相关神经退行性疾病共识临床管理指南(PLAN)

Wilson, Jenny L; Soo, Audrey K S; Gregory, Allison; Nardocci, Nardo; Zorzi, Giovanna; Ritzman, Matthew; Hope, Amanda; Duncan, David W; Thomas, Megan; Bertoldi, Serena; Scalise, Natale A; Wood, Patricia; Massey, Heather; Denton, Amber; Sargent, Amanda; Panwala, Leena; Hogarth, Penelope; Kurian, Manju A; Hayflick, Susan J

Post-ictal Psychosis: clinical case presentation and literature review

发作后精神病:临床病例介绍及文献综述

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A; Ramalheira, F; Vasconcelos, M D C; Andrade, M; Pereira, M

A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

首届国际 BPAN 研讨会提出的一个紧迫问题是:恢复自噬是否是治疗 BPAN 的一种有前景的治疗策略?

Mollereau, Bertrand; Hayflick, Susan J; Escalante, Ricardo; Mauthe, Mario; Papandreou, Apostolos; Iuso, Arcangela; Celle, Marion; Aniorte, Sahra; Issa, Abdul Raouf; Lasserre, Jean Paul; Lesca, Gaetan; Thobois, Stéphane; Burger, Pauline; Walter, Ludivine

A Brief History of NBIA Gene Discovery

NBIA基因发现简史

Hayflick, Susan J

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

RNA测序在孟德尔遗传病诊断中的临床应用

Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joél; Staufner, Christian; Stenton, Sarah L; Strom, Tim M; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Rötig, Agnès; Taylor, Robert W; Wortmann, Saskia B; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger

PKAN pathogenesis and treatment

PKAN 的发病机制和治疗

Hayflick, Susan J; Jeong, Suh Young; Sibon, Ody C M

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

利用外显子组测序数据进行线粒体DNA分析可提高神经系统疾病的诊断率

Poole, Olivia V; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L; Bugiardini, Enrico; Woodward, Cathy E; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A; Gregory, Allison; Hayflick, Susan J; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G; Pittman, Alan; Pitceathly, Robert D S

Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation

针对脑铁沉积遗传性神经退行性疾病的精准治疗

Spaull, Robert V V; Soo, Audrey K S; Hogarth, Penelope; Hayflick, Susan J; Kurian, Manju A

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

KMT2B相关疾病:表型谱的扩展及深部脑刺激的长期疗效

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A