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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Taft RJ, et al. Among authors: rosser t. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.
Wolters PL, Reda S, Martin S, Al Ghriwati N, Baker M, Berg D, Erickson G, Franklin B, Merker VL, Oberlander B, Reeve S, Rohl C, Rosser T, Toledo-Tamula MA, Vranceanu AM. Wolters PL, et al. Among authors: rosser t. Am J Med Genet A. 2022 Jan;188(1):71-82. doi: 10.1002/ajmg.a.62490. Epub 2021 Sep 18. Am J Med Genet A. 2022. PMID: 34536052 Free PMC article.
Neurofibromas in children with neurofibromatosis 1.
Rosser T, Packer RJ. Rosser T, et al. J Child Neurol. 2002 Aug;17(8):585-91; discussion 602-4, 646-51. doi: 10.1177/088307380201700808. J Child Neurol. 2002. PMID: 12403557 Review.
153 results