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Volker Straub

Newcastle University and Newcastle Hospitals NHS Foundation Trust

101H-index
959Paper Count
3.5WCitation Count
Published Papers 205
Publication Date
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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-03-19
err0
errOAAI
errLeonela 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
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
errEuropean Journal of Human Genetics
IF4.6
err2025-12-24
err0
PREAI
errJohn Vissing; Ana Töpf; Volker Straub; Thomas Krag
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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.
errNeuromuscular Disorders
IF2.8
err2025-12-08
err0
PREAI
errJodi Warman-Chardon; Volker Straub; John Vissing; Sarah Schlaeger; Hermien Kan
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Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2025-12-01
err0
errOAAI
errCosta-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
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Motor Function in Limb-Girdle Muscular Dystrophy R1/2A
errNEUROLOGY-GENETICS
IF3.7
err2025-12-01
err0
PREAI
errJames, 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.
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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe
errBRAIN
IF11.7
err2025-11-01
err1
PREAI
errFernandez-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
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SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
errAnnals of Clinical and Translational Neurology
IF3.9
err2025-10-06
err0
errOAAI
errNuria 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
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Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
errJournal of Neurology
IF4.6
err2025-08-16
err0
errOAAI
errPriya 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
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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy
errGenetics in Medicine
IF6.2
err2025-06-28
err0
errOAAI
errAnneke 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
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Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data
errNeuromuscular Disorders
IF2.8
err2025-06-16
err0
errOAAI
errMark 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
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Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy An Exploratory Analysis From the EMBARK Randomized Clinical Trial
errJAMA NEUROLOGY
IF21.3
err2025-05-12
err0
PREAI
errVandenborne, 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.
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Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-03-17
err0
PREAI
errMayhew, 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
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Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy
errDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
err2025-03-01
err0
errOAAI
errChesshyre, Mary; Ridout, Deborah; Stimpson, Georgia; Ricotti, Valeria; De Lucia, Silvana; Niks, Erik H.; Straub, Volker; Servais, Laurent; Hogrel, Jean-Yves; Baranello, Giovanni; Manzur, Adnan; UK NorthStar Clinical Network, Francesco; Muntoni, Francesco; IMDEX Network
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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2025-02-09
err0
errOAAI
errMccarty, 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.
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Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls
errJOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
IF9.1
err2025-02-03
err0
errOAAI
errNeal, 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
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Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-02-01
err0
PREAI
errElseed, 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
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Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy
errNEUROLOGY
IF8.5
err2025-01-28
err0
PREAI
errMcmillan, Hugh J.; Baranello, Giovanni; Farrar, Michelle A.; Zaidman, Craig M.; Moreno, Teresa; De Waele, Liesbeth; Jong, Yuh-Jyh; Laugel, Vincent; Quijano-Roy, Susana; Mercuri, Eugenio; Chien, Yin-Hsiu; Straub, Volker; Darras, Basil T.; Seibert, Julia; Bernardo Escudero, Roberto; Alecu, Iulian; Freischlaeger, Frank; Muntoni, Francesco
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Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-01-01
err0
PREAI
errSchiava, Marianela; Bourke, John P.; Diaz-Manera, Jordi; Johnson, Anna; Elseed, Maha A.; Tasca, Giorgio; Kadhim, Kadhim; Straub, Volker; Bettolo, Chiara Marini; Guglieri, Michela
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Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
errSCIENTIFIC REPORTS
IF3.9
err2024-11-29
err1
errOAAI
errServais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Mar; Nascimento, Andres; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Melanie; Eggenspieler, Damien
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A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
errNEUROLOGY-GENETICS
IF3.7
err2024-10-01
err0
errOAAI
errClaeys, Kristl G.; Savarese, Marco; Jonson, Per Harald; Goosens, Veerle; Topf, Ana; Vihola, Anna; Straub, Volker; Udd, Bjarne
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Research Directions

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