Wouter van Rheenen

brain centre rudolf magnus

H指数:44

被引数:1.1万

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Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report

European Journal of Human Genetics

IF4.6

2026-07-280

PRE

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

大规模外显子分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Nature Genetics

IF29

2026-03-310

OAAI

Paul J. Hop; Maarten Kooyman; Brendan J. Kenna; Ramona A. J. Zwamborn; Kristel R. van Eijk; Yan Wang; Charlotte H. van Dijk; Erwin Bekema; Wouter van Rheenen; Paul Beele; Joke J. F. A. van Vugt; Ahmad Al Khleifat; Alfredo Iacoangeli; Johnathan Cooper-Knock; Bradley N. Smith; Simon Topp; Anneke J. van der Kooi; Vera Fominykh; Vivian Drory; Yossef Lerner; Yehuda Shovman; Dominic B. Rowe; Kelly L. Williams; Russell L. McLaughlin; Jessica Hurt; Yunfeng Huang; Chia-Yen Chen; Ellen Tsai; Heiko Runz; Eleonora Aronica; Ewout J. N. Groen; Michael A. van Es; R. Jeroen Pasterkamp; Sali M. K. Farhan; Fleur C. Garton; Allan F. McRae; Pamela A. McCombe; Robert D. Henderson; Dongsheng Fan; Lenka Šlachtová; Helle Høyer; Agnes L. Nishimura; Ruben J. Cauchi; Lev Brylev; Boris Rogelj; Blaž Koritnik; Janez Zidar; Teresa Salas; Jesus S. Mora Pardina; Marc Gotkine; Monica Povedano; Philippe Corcia; Patrick Vourc’h; Philippe Couratier; Markus Weber; Matthew C. Kiernan; Roger Pamphlett; Ian P. Blair; Mamede de Carvalho; Nazli A. Başak; Caroline Ingre; Peter M. Andersen; Lorne Zinman; Ekaterina Rogaeva; Ian R. MacKenzie; Nicolas Dupre; Guy A. Rouleau; Bryan J. Traynor; Nicola Ticozzi; Adriano Chiò; Vincenzo Silani; Orla Hardiman; Hemali Phatnani; Matthew B. Harms; Clifton L. Dalgard; Jonathan D. Glass; John E. Landers; Philip Van Damme; Karen E. Morrison; Pamela J. Shaw; Chris E. Shaw; Ammar Al-Chalabi; Leonard H. van den Berg; Kevin P. Kenna; Jan H. Veldink

A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report

一名荷兰家族性运动神经元疾病患者的VAPB (P56S)基因突变：病例报告

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION

IF2.8

2025-09-010

PRE

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

SMN2综合分析排除了DNA甲基化作为脊髓性肌萎缩症的表观遗传生物标志物的可能性。

ISCIENCE

IF4.1

2025-05-010

OAAI

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

ANNALS OF NEUROLOGY

IF7.7

2025-04-010

OAAI

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2

与ATXN2的CAG重复扩增相关的肌萎缩侧索硬化的多效性和渗透性的观察研究

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-02-160

OAAI

Demaegd, Koen C.; Kernan, Aoife; Cooper-Knock, Johnathan; van Vugt, Joke J. F. A.; Harvey, Calum; Moll, Tobias; O'Brien, David; Gornall, Sarah; Drury, Luke; Farhan, Sali M. K.; Dion, Patrick A.; Rouleau, Guy A.; Western, Andrea; Parsons, Paul J.; Mclean, Benjamin; Benatar, Michael; van den Berg, Leonard H.; Van Damme, Philip; Willem Dankbaar, Jan; Hendrikse, Jeroen; Koole, Wouter; de Bie, Charlotte; Hobson, Esther; Veldink, Jan H.; van de Warrenburg, Bart; Pasterkamp, R. Jeroen; van Rheenen, Wouter; Kirby, Janine; Shaw, Pamela J.; van Es, Michael. A.

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG的隐性变异会导致运动神经病，并伴有可变的传导阻滞，儿童震颤和热性惊厥: 扩大表型

ANNALS OF NEUROLOGY

IF7.7

2024-10-230

OAAI

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

尼安德特人基因渗入和自然选择对神经退行性疾病的贡献

NEUROBIOLOGY OF DISEASE

IF5.6

2023-05-012

OAAI

Genetic variability in sporadic amyotrophic lateral sclerosis

散发性肌萎缩性侧索硬化症的遗传变异性

BRAIN

IF11.7

2023-04-1223

OAAI

Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J. F. A.; Zwamborn, Ramona A. J.; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesus S.; Povedano, Monica; Andersen, Peter M.; Weber, Markus; Basak, Nazli A.; Shaw, Chris; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; van Es, Michael A.; van den Berg, Leonard H.; Al-Chalabi, Ammar; Veldink, Jan; Van Damme, Philip

Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis A Meta-analysis and Population-Based Study

NEUROLOGY

IF8.5

2023-03-0713

OAAI

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

脑表达数量性状基因座和网络分析揭示了脑相关疾病的下游效应和推定驱动因素

NATURE GENETICS

IF31.8

2023-02-2359

OAAI

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2023-02-0321

OAAI

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

全基因组测序分析揭示了患有肌萎缩性侧索硬化症的单卵双胞胎的合子后突变变异性

NEUROBIOLOGY OF AGING

IF3.5

2023-02-013

OAAI

Tazelaar, Gijs H. P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J. F. A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al-Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; Hardiman, Orla; Van Damme, Philip; de Carvalho, Mamede; Neuwirth, Christoph; Weber, Markus; Andersen, Peter M.; van den Berg, Leonard H.; Veldink, Jan H.; van Es, Michael A.

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

使用大规模全基因组序列数据分析肌萎缩侧索硬化症的端粒长度

FRONTIERS IN CELLULAR NEUROSCIENCE

IF4

2022-12-153

OAAI

Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

DNA甲基化的全基因组研究显示ALS中代谢，炎症和胆固醇途径的改变

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-02-2350

Hop, Paul J.; Zwamborn, Ramona A. J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; van Rheenen, Wouter; van Vugt, Joke J. F. A.; Dekker, Annelot M.; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Moisse, Matthieu; Baird, Denis; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E.; Shaw, Pamela J.; Basak, A. Nazli; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Pardina, Jesus S. Mora; Salas, Teresa; Dion, Patrick; Ross, Jay P.; Henderson, Robert D.; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B.; Pamphlett, Roger; Mather, Karen A.; Sachdev, Perminder S.; Furlong, Sarah; Garton, Fleur C.; Henders, Anjali K.; Lin, Tian; Ngo, Shyuan T.; Steyn, Frederik J.; Wallace, Leanne; Williams, Kelly L.; Neto, Miguel Mitne; Cauchi, Ruben J.; Blair, Ian P.; Kiernan, Matthew C.; Drory, Vivian; Povedano, Monica; de Carvalho, Mamede; Pinto, Susana; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; McRae, Allan F.; van Es, Michael A.; Pasterkamp, R. Jeroen; Wray, Naomi R.; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; van den Berg, Leonard H.; Van Damme, Philip; Mill, Jonathan; Veldink, Jan H.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点 (第53卷，1636页，2021)

NATURE GENETICS

IF31.8

2022-01-311

OAAI

van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点

NATURE GENETICS

IF31.8

2021-12-06235

OAAI

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

肌萎缩侧索硬化SCFD1表达数量性状位点差异表达

BRAIN COMMUNICATIONS

IF4.5

2021-10-0713

OAAI