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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. Genet Med. 2021. PMID: 34667295 Free PMC article. No abstract available.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
Spasticity and pain in adults with cerebral palsy.
Flanigan M, Gaebler-Spira D, Kocherginsky M, Garrett A, Marciniak C. Flanigan M, et al. Dev Med Child Neurol. 2020 Mar;62(3):379-385. doi: 10.1111/dmcn.14368. Epub 2019 Oct 10. Dev Med Child Neurol. 2020. PMID: 31602643 Free article.
Participation: remembering the 'handicap'.
Gaebler-Spira D. Gaebler-Spira D. Dev Med Child Neurol. 2016 Jan;58(1):6-7. doi: 10.1111/dmcn.12941. Epub 2015 Oct 13. Dev Med Child Neurol. 2016. PMID: 26464078 Free article. No abstract available.
Recognizing and Reacting to challenges.
Gaebler-Spira D, Green M. Gaebler-Spira D, et al. J Pediatr Rehabil Med. 2021;14(2):151-152. doi: 10.3233/PRM-219006. J Pediatr Rehabil Med. 2021. PMID: 34092666 No abstract available.
127 results