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Items: 25

1.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ.

Clin Genet. 2020 Jan 19. doi: 10.1111/cge.13706. [Epub ahead of print]

PMID:
31957011
2.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
3.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G.

Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.

4.

Professional occupation and the risk of Parkinson's disease.

Darweesh SKL, Ikram MK, Faber MJ, de Vries NM, Haaxma CA, Hofman A, Koudstaal PJ, Bloem BR, Ikram MA.

Eur J Neurol. 2018 Dec;25(12):1470-1476. doi: 10.1111/ene.13752. Epub 2018 Aug 6.

5.

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Braakman HM, Verhoeven JS, Erasmus CE, Haaxma CA, Willemsen MH, Schelhaas HJ.

Epilepsia Open. 2017 May 16;2(3):343-344. doi: 10.1002/epi4.12059. eCollection 2017 Sep.

6.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF.

J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22.

7.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group.

Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Review.

8.

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP.

Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24.

9.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M.

Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.

10.

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH.

Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb.

11.

Risk of Disabling Response Fluctuations and Dyskinesias for Dopamine Agonists Versus Levodopa in Parkinson's Disease.

Haaxma CA, Horstink MW, Zijlmans JC, Lemmens WA, Bloem BR, Borm GF.

J Parkinsons Dis. 2015;5(4):847-53. doi: 10.3233/JPD-150532.

PMID:
26444087
12.

Artistic occupations are associated with a reduced risk of Parkinson's disease.

Haaxma CA, Borm GF, van der Linden D, Kappelle AC, Bloem BR.

J Neurol. 2015 Sep;262(9):2171-6. doi: 10.1007/s00415-015-7828-y. Epub 2015 Jul 3.

13.

[A neonate with a sacrococcygeal mass].

Mooij CF, Haaxma CA, Scharbatke HE.

Ned Tijdschr Geneeskd. 2015;159:A8313. Dutch.

PMID:
25761292
14.

Freezer or non-freezer: clinical assessment of freezing of gait.

Snijders AH, Haaxma CA, Hagen YJ, Munneke M, Bloem BR.

Parkinsonism Relat Disord. 2012 Feb;18(2):149-54. doi: 10.1016/j.parkreldis.2011.09.006. Epub 2011 Oct 2.

15.

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA.

Am J Med Genet A. 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620.

PMID:
20799324
16.

Side of symptom onset affects motor dysfunction in Parkinson's disease.

Haaxma CA, Helmich RC, Borm GF, Kappelle AC, Horstink MW, Bloem BR.

Neuroscience. 2010 Nov 10;170(4):1282-5. doi: 10.1016/j.neuroscience.2010.07.030. Epub 2010 Aug 17.

PMID:
20723583
17.

Timed motor tests can detect subtle motor dysfunction in early Parkinson's disease.

Haaxma CA, Bloem BR, Overeem S, Borm GF, Horstink MW.

Mov Disord. 2010 Jul 15;25(9):1150-6. doi: 10.1002/mds.23100.

PMID:
20629141
18.

[From psychiatric symptoms to paraneoplastic syndrome].

de Bot ST, Dorresteijn LD, Haaxma CA, Kappelle AC, van de Warrenburg BP.

Tijdschr Psychiatr. 2008;50(9):603-9. Dutch.

19.

Comparison of a timed motor test battery to the Unified Parkinson's Disease Rating Scale-III in Parkinson's disease.

Haaxma CA, Bloem BR, Borm GF, Horstink MW.

Mov Disord. 2008 Sep 15;23(12):1707-17. doi: 10.1002/mds.22197.

PMID:
18649395
20.

[Bilateral lesions of the basal ganglia as a sign of chronic carbon monoxide intoxication].

Haaxma CA, van Eijk JJ, van der Vilet AM, Renier WO, Bloem BR.

Ned Tijdschr Geneeskd. 2007 Apr 14;151(15):868-73. Dutch.

PMID:
17472119
21.

Gender differences in Parkinson's disease.

Haaxma CA, Bloem BR, Borm GF, Oyen WJ, Leenders KL, Eshuis S, Booij J, Dluzen DE, Horstink MW.

J Neurol Neurosurg Psychiatry. 2007 Aug;78(8):819-24. Epub 2006 Nov 10.

22.

Diagnostic value of asymmetric striatal D2 receptor upregulation in Parkinson's disease: an [123I]IBZM and [123I]FP-CIT SPECT study.

Verstappen CC, Bloem BR, Haaxma CA, Oyen WJ, Horstink MW.

Eur J Nucl Med Mol Imaging. 2007 Apr;34(4):502-7. Epub 2006 Oct 20.

PMID:
17053905
23.

Delayed amnesic syndrome after riluzole autointoxication in Huntington disease.

Haaxma CA, Kremer HP, van de Warrenburg BP.

Neurology. 2006 Apr 11;66(7):1123-4. No abstract available.

PMID:
16606937
24.

Transcription factors C/EBP-alpha and HNF-1alpha are associated with decreased expression of liver-specific genes in sepsis.

Haaxma CA, Kim PK, Andrejko KM, Raj NR, Deutschman CS.

Shock. 2003 Jan;19(1):45-9.

PMID:
12558143
25.

Compensatory hepatic regeneration after mild, but not fulminant, intraperitoneal sepsis in rats.

Weiss YG, Bellin L, Kim PK, Andrejko KM, Haaxma CA, Raj N, Furth EE, Deutschman CS.

Am J Physiol Gastrointest Liver Physiol. 2001 May;280(5):G968-73.

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