Browsing by Author Straub, Volker

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Issue DateTitleAuthor(s)Citation
2008Brain involvement in muscular dystrophies with defective dystroglycan glycosylationNorth, Kathryn; Smith, Janine; Bushby, Kate; Clement, Emma; Cowan, F M; et al, Not Known; Godfrey, Caroline; Kinali, Maria; Manzur, Adnan; Mercuri, Eugenio; Robb, Stephanie; Straub, Volker; Talim, Beril; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsBrain involvement in muscular dystrophies with defective dystroglycan glycosylation, Annals of Neurology, vol.64,(5),2008,pp 573-582
2011Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor AutoantibodiesCooper, Sandra; Dale, Russell; Domazetovska, Ana; Lo, Harriet; North, Kathryn; Barresi, Rita; Bertini, E; D'Amico, Adele; Mirabella, Massimiliano; Petrini, Stefania; Roberts, Mark; Straub, Volker; Tasca, Giorgio; Tozzi, Giulia; Valente, Enza Maria; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthMosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies, Neuromuscular Disorders, vol.21, 3, 2011,pp 194-203
2013Natural history of pulmonary function in collagen VI-related myopathiesNorth, Kathryn; Bertini, E; Collins, James; D'Amico, Adele; Deconinck, Nicolas; et al, Various; Foley, A Reghan; McCallum, Michelle; Mercuri, Eugenio; Pane, Marika; Quijano-Roy, Susana; Straub, Volker; Children's Hospital Westmead: Paediatrics & Child HealthNatural history of pulmonary function in collagen VI-related myopathies, Brain, vol.136, N/A, 2013,pp 3625-3633
2007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanNorth, Kathryn; Smith, Janine; Abbs, Stephen; Brockington, Martin; Brown, Susan C; Bushby, Kate; Clement, Emma; Feng, Lucy; Godfrey, Caroline; Jimenez-Mallebrera, Cecilia; Kinali, Maria; Manzur, Eugenio; Mein, Rachael; Mercuri, Eugenio; Muntoni, Francesco; Quinlivan, Ros; Robb, Stephanie; Sewry, Caroline A; Straub, Volker; Talim, Beril; Topalogu, Haluk; Torelli, Silvia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain (2005), vol.130,(10),2007,pp 2725-2735
2014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Al-Odaib, Ahmad; Burns, Joshua; Carpenter, Kevin; Christodoulou, John; Gold, Wendy; Lek, Monkol; Menezes, Manoj; Ouvrier, Robert; Wang, Min-Xia; Zuchner, Stephen; Abrams, Alexander; Antony, Jayne; Baxter, Peter; Brandner, Sebastian; Broomfield, Alexander; Clayton, P.; Farrell, Michael; Foley, A Reghan; Forman, Eva; Gonzalez, Michael; Hargreaves, Iain; Horvath, Rita; Houlden, Henry; Hughes, Imelda; Jungbluth, Heinz; King, Mary D.; Land, John; Lim, Ming; Lin, Jean-Pierre; Manzur, Adnan; Mathew, Ann; Matsubara, Kazuo; McCullagh, B. Gary; McGarvey, Michael; Megarbane, Andre; Muntoni, Francesco; Ng, Joanne; O’Byrne, James; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Pandraud, Amelie; Phadke, Rahul; Prasad, Manish; Rahman, Shamima; Reilly, Mary; Scherer, Steven; Scoto, Mariacristina; Shah, Ayaz; Straub, Volker; Sugano, Kumiko; Urtizberea, Jon Andoni; Webster, Richard; Yonezawa, Atsushi; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2, Brain, vol.137, Pt 1, 2014,pp 44-56