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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC. Whitman MC, et al. Among authors: moller hu. Hum Genet. 2021 Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15. Hum Genet. 2021. PMID: 34652576 Free PMC article.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Tischfield MA, et al. Among authors: moller hu. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W. Weiss JS, et al. Among authors: moller hu. Cornea. 2024 Apr 1;43(4):466-527. doi: 10.1097/ICO.0000000000003420. Epub 2024 Feb 12. Cornea. 2024. PMID: 38359414 Free PMC article.
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. Louise M Binderup M, et al. Among authors: moller hu. Eur J Med Genet. 2022 Aug;65(8):104538. doi: 10.1016/j.ejmg.2022.104538. Epub 2022 Jun 13. Eur J Med Genet. 2022. PMID: 35709961 Free article.
[Diagnosis, monitoring and treatment of tuberous sclerosis complex].
Reinhard M, Sunde L, Madsen MG, Andersen BN, Bendstrup E, Sommerlund M, Gjørup H, Larsen DA, Møller HU, Nielsen DG, Mortensen UM, Handrup MM, Aagaard NKM, Cortnum S, Khatir DS, Bayat M, Andersen G, Stausbøl-Grøn B, Christensen J. Reinhard M, et al. Among authors: moller hu. Ugeskr Laeger. 2019 Nov 4;181(45):V05190293. Ugeskr Laeger. 2019. PMID: 31791451 Free article. Review. Danish.
The Corneal Dystrophies-Does the Literature Clarify or Confuse?
Weiss JS, Møller HU, Lisch W. Weiss JS, et al. Among authors: moller hu. Am J Ophthalmol. 2018 Nov;195:xv-xvii. doi: 10.1016/j.ajo.2018.07.047. Epub 2018 Sep 11. Am J Ophthalmol. 2018. PMID: 30217469 No abstract available.
IC3D classification of corneal dystrophies--edition 2.
Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W. Weiss JS, et al. Among authors: moller hu. Cornea. 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. Cornea. 2015. PMID: 25564336 Free article.
56 results