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Volker Straub

newcastle university
H指数:101
被引数:3.4万

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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

破解密码： sarcoglycanopathies 中基因型-表型相关模型

Annals of Clinical and Translational Neurology
IF3.9
2026-03-190
OAAI
Leonela Luce; Goknur Selen Kocak; José Verdú-Díaz; Jorge Alonso-Pérez; Kristl G. Claeys; Tanya Stojkovic; Gorka Fernández-Eulate; Pascal Laforêt; Najoua Miladi; Filipe Di Pace; Cristiane Araujo Martins Moreno; Edmar Zanoteli; Conrad C. Weihl; Volker Straub; Ana Töpf; Jordi Díaz-Manera; Sarcoglycan European Cohort Consortium
Workshop report: 286th ENMC International Workshop: “Muscle imaging: Artificial Intelligence, Automatic Segmentation and Imaging Data Sharing in Neuromuscular Disease.” Hoofddorp, The Netherlands, 7-9 March 2025.

研讨会报告：第286届ENMC国际研讨会：“肌肉成像：神经肌肉疾病中的人工智能、自动分割和影像数据共享。”荷兰霍夫多普，2025年3月7日至9日。

Neuromuscular Disorders
IF2.8
2025-12-080
PRE
Jodi Warman-Chardon; Volker Straub; John Vissing; Sarah Schlaeger; Hermien Kan
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-12-010
OAAI
Costa-comellas, Laura; Monforte, Mauro; Sanchez-montanez, Angel; Romero-duque, Penelope; Pegoraro, Elena; Diaz-manera, Jordi; Vlodavets, Dmitry; Maggi, Lorenzo; Moscatelli, Marco; Damico, Adele; Olive, Montse; Alonso-perez, Jorge; Comi, Giacomo; Escudero-fernandez, Jose Miguel; Urcuyo, Gabriela S.; Pichiecchio, Anna; Berardinelli, Angela; Claeys, Kristl G.; Bruno, Claudio; Panicucci, Chiara; Bortolani, Sara; Torchia, Eleonora; Ricci, Enzo; Monges, Soledad; Bevilacqua, Jorge A.; Diaz-jara, Jorge; Walter, Maggie C.; Thiele, Simone; Lokken, Nicoline; Vissing, John; Quijano-roy, Susana; Carlier, Robert Y.; Voermans, Nicol C.; Marini-bettolo, Chiara; Guglieri, Michela; Straub, Volker; Leonardis, Lea; Munell, Francina; Gomez-andres, David; Tasca, Giorgio
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A

肢体带型肌营养不良R1/2A的肢体运动功能

NEUROLOGY-GENETICS
IF3.7
2025-12-010
PRE
James, Meredith K.; Iammarino, Megan A.; Reash, Natalie F.; Steiner, Christopher L.; Knight, Audrey B.; Smith, Melissa A.; Moat, Dionne; Michell-Sodhi, Jassi; Wong, Karen S. W.; Grover, Emma; Robinson, Emma-Jayne; Mayhew, Anna G.; Eagle, Michelle; Elseed, Maha; Guglieri, Michela; Straub, Volker; Marini-Bettolo, Chiara; Muni-Lofra, Robert; Diaz-Manera, Jordi; Lowes, Linda Pax; Alfano, Lindsay N.
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

BAG3相关神经肌肉疾病在欧洲患者中的疾病谱及长期预后。Brain A J. Neurology, awaf223

BRAIN
IF11.7
2025-11-011
PRE
Fernandez-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Moris, German; Gallardo, Eduard; Olive, Montse; De Fuenmayor-fernandez De La Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C.; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G.; Dohrn, Maike F.; Dembele, Mohamed; Fer, Frederic; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Dominguez-Gonzalez, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

SNUPN相关肌营养不良症：新型表型、病理学和功能蛋白见解

Annals of Clinical and Translational Neurology
IF3.9
2025-10-060
OAAI
Nuria Muelas; Pablo Iruzubieta; Alberto Damborenea; Laura Pérez-Fernández; Inmaculada Azorín; Juan Carlos Jiménez García; Ana Töpf; Pilar Martí; Lorena Fores-Toribio; María Manterola; Rosana Blanco-Mañez; Oihane Pikatza-Menoio; Sonia Alonso-Martín; Volker Straub; Aitziber L. Cortajarena; Adolfo López de Munain; David De Sancho; Lorea Blázquez; Juan J. Vilchez
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial

avalglucosidase alfa在COMET试验中治疗晚期发作型庞贝病145周后的疗效与安全性

Journal of Neurology
IF4.6
2025-08-160
OA
Priya S. Kishnani; Jordi Díaz-Manera; Sergey Illarioshkin; Ans T. van der Ploeg; Paula R. Clemens; John W. Day; Antonio Toscano; Hani Kushlaf; Shafeeq Ladha; Shahram Attarian; Gerson Carvalho; Anna Kostera-Pruszczyk; Sevim Erdem-Özdamar; Ozlem Goker-Alpan; Tahseen Mozaffar; Volker Straub; Mark Roberts; Kristina An Haack; Olivier Huynh-Ba; Swathi Tammireddy; Magali Periquet; Nathan Thibault; Tianyue Zhou; Mazen M. Dimachkie; Benedikt Schoser
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

POC5基因的双等位基因失活突变可导致综合征性视网膜、内分泌和神经肌肉性纤毛病

Genetics in Medicine
IF6.2
2025-06-280
OAAI
Anneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud
Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data

神经肌肉疾病患者运动暴露水平：来自真实世界数据的经验教训

Neuromuscular Disorders
IF2.8
2025-06-160
OA
Mark Richardson; Virginie Kinet; Karen Wong; Maha Elseed; Dionne Moat; Elizabeth Harris; Jassi Michel-Sodhi; Carla Bolano-Diaz; Michelle McCallum; Emma Robinson; Marianela Schiava; Emma Grover; Doaa Salman; Michela Guglieri; Giorgio Tasca; Elisabetta Ghimenton; Jordi Diaz-Manera; Anna Mayhew; Meredith K. James; Volker Straub; Robert Muni-Lofra
Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy An Exploratory Analysis From the EMBARK Randomized Clinical Trial

杜氏肌营养不良症患者定量肌肉磁共振结局：EMBARK随机临床试验的探索性分析

JAMA NEUROLOGY
IF21.3
2025-05-120
PRE
Vandenborne, Krista; Walter, Glenn A.; Straub, Volker; Willcocks, Rebecca J.; Forbes, Sean C.; Mercuri, Eugenio M.; Muntoni, Francesco; Ding, Kai; Ennamuri, Sravya; Reid, Carol; Murphy, Alexander P.; Manfrini, Marianna; Mendell, Jerry R.; Elkins, Jacob S.; Rodino-Klapac, Louise R.
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy

按年龄和下降率可视化杜氏肌营养不良症患者的步行表现

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2025-03-170
PRE
Mayhew, Anna G.; Signorovitch, James; Johnson, Michaela; Frean, Molly; Ward, Susan J.; Posner, Nate; Merla, Valeria; Mahn, Matthias; Stimpson, Georgia; Guglieri, Michela; Straub, Volker; Muni-Lofra, Robert; Manzur, Adnan; Baranello, Giovanni; Muntoni, Francesco; North Star Clinical Network
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-02-090
OA
Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G.
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls

利用23Na-MRI对dysferlinopathy患者和健康对照组运动后肌肉钠动力学进行快速定量评估

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
IF9.1
2025-02-030
OA
Neal, Mary A.; Bolano-Diaz, Carla F.; Richardson, Mark; Michell-Sodhi, Jassi; Muni-Lofra, Robert; James, Meredith K.; Hollingsworth, Kieren G.; Hilsden, Heather; Wilson, Ian; Blamire, Andrew M.; Straub, Volker; Thelwall, Peter E.; Diaz-Manera, Jordi
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy

结节性筋膜肿瘤：一种罕见的先天性单侧小腿增大的病因，易被误诊为小腿肥大。

NEUROMUSCULAR DISORDERS
IF2.8
2025-02-010
PRE
Elseed, Maha; Sampson, James N.; Polvikoski, Tuomo; Henderson, Matthew; Parkhurst, Yolande; Bertoli, Marta; Schiava, Marianela; Lofra, Robert Muni; Moat, Dionne; Wong, Karen; Michell-Sodhi, Jassi; Guglieri, Michela; Straub, Volker; Harris, Elizabeth; Marini-Bettolo, Chiara

研究方向

暂未获取到该数据
H
Hanns Lochmüller
H 指数:100论文数:1,570被引数:3.8万
A
Ana Töpf
H 指数:39论文数:256被引数:6,049
K
Kate Bushby
H 指数:80论文数:858被引数:1.8万
M
Michela Guglieri
H 指数:52论文数:292被引数:9,693
J
Jordi Díaz‐Manera
H 指数:51论文数:500被引数:1.0万
J
John Vissing
H 指数:70论文数:895被引数:2.0万
R
Rita Barresi
H 指数:29论文数:103被引数:3,739
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万
A
Anna Mayhew
H 指数:37论文数:159被引数:5,238
F
Francesco Muntoni
H 指数:97论文数:768被引数:3.7万