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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: tomaselli pj. Clin Genet. 2024 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29. Clin Genet. 2024. PMID: 38685133 Review.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Among authors: tomaselli pj. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631 Free PMC article.
Recent advances in the genetic neuropathies.
Rossor AM, Tomaselli PJ, Reilly MM. Rossor AM, et al. Among authors: tomaselli pj. Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373. Curr Opin Neurol. 2016. PMID: 27584852 Free PMC article. Review.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Among authors: tomaselli pj. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.
51 results