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Page 1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. Among authors: vaidya s. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Sarkozy A, et al. Among authors: vaidya ss. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V. Sarkozy A, et al. Among authors: vaidya ss. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012. Neuromuscul Disord. 2012. PMID: 22980763
Weak hand and twitching legs.
Alexander SK, Chukwulobelu R, Vaidya S, Catania S, Ragoowansi R, Radunović A. Alexander SK, et al. Among authors: vaidya s. Pract Neurol. 2018 Dec;18(6):513-517. doi: 10.1136/practneurol-2018-001948. Epub 2018 Jul 30. Pract Neurol. 2018. PMID: 30061334 No abstract available.
Imaging and staging of haemophilic arthropathy.
Jelbert A, Vaidya S, Fotiadis N. Jelbert A, et al. Among authors: vaidya s. Clin Radiol. 2009 Nov;64(11):1119-28. doi: 10.1016/j.crad.2009.07.005. Epub 2009 Sep 17. Clin Radiol. 2009. PMID: 19822246 Review.
Hemophilic arthropathy: a review of imaging and staging.
Cross S, Vaidya S, Fotiadis N. Cross S, et al. Among authors: vaidya s. Semin Ultrasound CT MR. 2013 Dec;34(6):516-24. doi: 10.1053/j.sult.2013.05.007. Semin Ultrasound CT MR. 2013. PMID: 24332203 Review.
730 results