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Items: 22

1.

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Brain. 2019 Jun 3. pii: awz140. doi: 10.1093/brain/awz140. [Epub ahead of print] No abstract available.

PMID:
31157359
2.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC.

AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.

PMID:
30606727
3.

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients.

van Roon-Mom WMC, Roos RAC, de Bot ST.

Nucleic Acid Ther. 2018 Apr;28(2):59-62. doi: 10.1089/nat.2018.0720. Epub 2018 Mar 13.

PMID:
29620999
4.

Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

de Bot S, Kamsteeg EJ, Van De Warrenburg BPC.

Brain. 2017 Dec 1;140(12):e73. doi: 10.1093/brain/awx280. No abstract available.

PMID:
29112699
5.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

6.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Erratum in: Eur J Hum Genet. 2017 Feb;25(3):393-0.

7.

Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia.

de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.

J Rehabil Med. 2015 Feb;47(2):147-53. doi: 10.2340/16501977-1909.

8.

StartReact restores reaction time in HSP: evidence for subcortical release of a motor program.

Nonnekes J, Oude Nijhuis LB, de Niet M, de Bot ST, Pasman JW, van de Warrenburg BP, Bloem BR, Weerdesteyn V, Geurts AC.

J Neurosci. 2014 Jan 1;34(1):275-81. doi: 10.1523/JNEUROSCI.2948-13.2014.

9.

Mechanisms of postural instability in hereditary spastic paraplegia.

Nonnekes J, de Niet M, Oude Nijhuis LB, de Bot ST, van de Warrenburg BP, Bloem BR, Geurts AC, Weerdesteyn V.

J Neurol. 2013 Sep;260(9):2387-95. doi: 10.1007/s00415-013-7002-3. Epub 2013 Jun 20.

PMID:
23784609
10.

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ.

J Neurol. 2013 Jul;260(7):1765-9. doi: 10.1007/s00415-013-6870-x. Epub 2013 Mar 2.

PMID:
23455931
11.

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP.

Eur J Hum Genet. 2013 Nov;21(11):1312-5. doi: 10.1038/ejhg.2013.27. Epub 2013 Feb 27.

12.

Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis.

de Niet M, Weerdesteyn V, de Bot ST, van de Warrenburg BP, Geurts AC.

Gait Posture. 2013 Jun;38(2):304-9. doi: 10.1016/j.gaitpost.2012.12.006. Epub 2013 Feb 20.

PMID:
23433545
13.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP.

Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.

14.

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, van den Berg LH, Kremer HP, Kamsteeg EJ, van de Warrenburg BP.

J Neurol. 2013 Mar;260(3):869-75. doi: 10.1007/s00415-012-6723-z. Epub 2012 Oct 30.

PMID:
23108492
15.

Reviewing the genetic causes of spastic-ataxias.

de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP.

Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Review.

PMID:
23033504
16.

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

de Bot ST, Schelhaas HJ, Kamsteeg EJ, van de Warrenburg BP.

Brain. 2012 Dec;135(Pt 12):e223; author reply e224. doi: 10.1093/brain/aws201. Epub 2012 Sep 18. No abstract available.

PMID:
22991237
17.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP.

Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.

PMID:
22964162
18.

Child neurology: hereditary spastic paraplegia in children.

de Bot ST, van de Warrenburg BP, Kremer HP, Willemsen MA.

Neurology. 2010 Nov 9;75(19):e75-9. doi: 10.1212/WNL.0b013e3181fc2776. Review. No abstract available.

PMID:
21060088
19.

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H.

J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20.

PMID:
20562464
20.

CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.

de Bot ST, Kremer HP, Dooijes D, Verbeek MM.

J Alzheimers Dis. 2009;17(1):53-7. doi: 10.3233/JAD-2009-1038.

PMID:
19494431
21.

[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.

22.

[A patient with feigned mental incompetence requiring medical treatment].

de Bot ST, Nanda D, Dorresteijn LD.

Ned Tijdschr Geneeskd. 2008 Jan 19;152(3):173; author reply 173-4. Dutch. No abstract available.

PMID:
18271468

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