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From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS. Ferner RE, et al. Among authors: schindeler a. Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: 10.1002/ajmg.a.61112. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908866 Free PMC article.
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Elefteriou F, et al. Among authors: schindeler a. Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Am J Med Genet A. 2009. PMID: 19764036 Review.
Update from the 2013 International Neurofibromatosis Conference.
Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC. Plotkin SR, et al. Among authors: schindeler a. Am J Med Genet A. 2014 Dec;164A(12):2969-78. doi: 10.1002/ajmg.a.36754. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25255738 Free PMC article. No abstract available.
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Vasiljevski ER, Burns J, Bray P, Donlevy G, Mudge AJ, Jones KJ, Summers MA, Biggin A, Munns CF, McKay MJ, Baldwin JN, Little DG, Schindeler A. Vasiljevski ER, et al. Among authors: schindeler a. Am J Med Genet A. 2021 Oct;185(10):2976-2985. doi: 10.1002/ajmg.a.62392. Epub 2021 Jun 21. Am J Med Genet A. 2021. PMID: 34155781 Free PMC article. Clinical Trial.
NF1 is a critical regulator of muscle development and metabolism.
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. Sullivan K, et al. Among authors: schindeler a. Hum Mol Genet. 2014 Mar 1;23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163128 Free PMC article.
Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
Summers MA, Quinlan KG, Payne JM, Little DG, North KN, Schindeler A. Summers MA, et al. Among authors: schindeler a. J Musculoskelet Neuronal Interact. 2015 Jun;15(2):161-70. J Musculoskelet Neuronal Interact. 2015. PMID: 26032208 Free PMC article. Review.
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Summers MA, Rupasinghe T, Vasiljevski ER, Evesson FJ, Mikulec K, Peacock L, Quinlan KG, Cooper ST, Roessner U, Stevenson DA, Little DG, Schindeler A. Summers MA, et al. Among authors: schindeler a. Hum Mol Genet. 2018 Feb 15;27(4):577-588. doi: 10.1093/hmg/ddx423. Hum Mol Genet. 2018. PMID: 29228356
128 results