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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: gilbert dl. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article.
Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association.
Wilmshurst JM, Catsman-Berrevoets C, Gilbert DL, Nagarajan L, Samia P, Serdaroglu E, Triki C, Vidaurre J, Hameed B; Pediatric Neurology Training Study Group. Wilmshurst JM, et al. Among authors: gilbert dl. Neurology. 2023 Oct 31;101(18):798-808. doi: 10.1212/WNL.0000000000207633. Epub 2023 Jul 25. Neurology. 2023. PMID: 37491325 Free PMC article.
Study protocol: A cross-sectional survey of clinicians to identify barriers to clinical practice guideline implementation in the assessment and treatment of persistent tic disorders.
Martindale JM, Sarva H, Martino D, Gilbert DL, Ganos C, Pringsheim T, Black K, Malaty IA; all on behalf of the Movement Disorder Society Tic and Tourette Study Group. Martindale JM, et al. Among authors: gilbert dl. PLoS One. 2023 Jul 19;18(7):e0288408. doi: 10.1371/journal.pone.0288408. eCollection 2023. PLoS One. 2023. PMID: 37467237 Free PMC article.
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Neves R, De Dios Perez B, Panek R, Jagani S, Wilne S, Bhatt JM, Caputi C, Cirillo E, Coman DJ, Dückers G, Gilbert DL, Kay Koenig M, Mansour L, McDermott E, Pauni M, Pignata C, Perlman SL, Porras O, Betina Porto M, Schon K, Soler-Palacin P, Nick Russo S, Takagi M, Tischkowitz M, Wainwright C, Dandapani M, Glazebrook C, Suri M, Whitehouse WP, Dineen RA. Neves R, et al. Among authors: gilbert dl. Cancer Med. 2023 Jul;12(13):14663-14673. doi: 10.1002/cam4.6075. Epub 2023 Jun 2. Cancer Med. 2023. PMID: 37264737 Free PMC article.
269 results