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Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26.
Epilepsia. 2020.
PMID: 32452540
Review.
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS.
Bayat A, et al.
Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9.
Epilepsy Res. 2021.
PMID: 33508693
Review.
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Neuronal intranuclear inclusions, dysregulation of cytokine expression and cell death in spinocerebellar ataxia type 3.
Evert BO, Schelhaas J, Fleischer H, de Vos RA, Brunt ER, Stenzel W, Klockgether T, Wüllner U.
Evert BO, et al.
Clin Neuropathol. 2006 Nov-Dec;25(6):272-81.
Clin Neuropathol. 2006.
PMID: 17140157
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Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.
Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS.
Delnooz CC, et al. Among authors: schelhaas jh.
Mov Disord. 2008 Aug 15;23(11):1613-5. doi: 10.1002/mds.22053.
Mov Disord. 2008.
PMID: 18581469
No abstract available.
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Supratentorial ischemic stroke: more than an upper motor neuron disorder.
van Kuijk AA, Pasman JW, Hendricks HT, Schelhaas JH, Zwarts MJ, Geurts AC.
van Kuijk AA, et al. Among authors: schelhaas jh.
J Clin Neurophysiol. 2007 Dec;24(6):450-5. doi: 10.1097/WNP.0b013e3181590371.
J Clin Neurophysiol. 2007.
PMID: 18090526
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Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ.
Verbeek DS, et al. Among authors: schelhaas jh.
Hum Genet. 2002 Oct;111(4-5):388-93. doi: 10.1007/s00439-002-0782-7. Epub 2002 Aug 30.
Hum Genet. 2002.
PMID: 12384780
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