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Page 1
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: kamphuis dj. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: kamphuis dj. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor.
Zoons E, Booij J, Delnooz CCS, Dijk JM, Dreissen YEM, Koelman JHTM, van der Salm SMA, Skorvanek M, Smit M, Aramideh M, Bienfait H, Boon AJW, Brans JWM, Hoogerwaard E, Hovestadt A, Kamphuis DJ, Munts AG, Speelman JD, Tijssen MAJ. Zoons E, et al. Among authors: kamphuis dj. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):579-585. doi: 10.1136/jnnp-2017-317352. Epub 2018 Jan 11. J Neurol Neurosurg Psychiatry. 2018. PMID: 29326295 Clinical Trial.
Non-motor symptoms and quality of life in dopa-responsive dystonia patients.
Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ. Timmers ER, et al. Among authors: kamphuis dj. Parkinsonism Relat Disord. 2017 Dec;45:57-62. doi: 10.1016/j.parkreldis.2017.10.005. Epub 2017 Oct 10. Parkinsonism Relat Disord. 2017. PMID: 29066160
30 results