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Items: 1 to 50 of 237

1.

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.

Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada K, Wegel CE, Danjou F, Simon DK, Ravina B, Toft M, Heutink P, Bloem BR, Weintraub D, Barker RA, Williams-Gray CH, van de Warrenburg BP, Van Hilten JJ, Scherzer CR, Singleton AB, Nalls MA.

Neurol Genet. 2019 Jul 9;5(4):e348. doi: 10.1212/NXG.0000000000000348. eCollection 2019 Aug.

2.

The Personalized Parkinson Project: examining disease progression through broad biomarkers in early Parkinson's disease.

Bloem BR, Marks WJ Jr, Silva de Lima AL, Kuijf ML, van Laar T, Jacobs BPF, Verbeek MM, Helmich RC, van de Warrenburg BP, Evers LJW, intHout J, van de Zande T, Snyder TM, Kapur R, Meinders MJ.

BMC Neurol. 2019 Jul 17;19(1):160. doi: 10.1186/s12883-019-1394-3.

3.

Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study.

Maas RPPWM, Toni I, Doorduin J, Klockgether T, Schutter DJLG, van de Warrenburg BPC.

BMC Neurol. 2019 Jul 4;19(1):149. doi: 10.1186/s12883-019-1379-2.

4.

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.

Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.

PMID:
31211461
5.

Excessive short-latency stretch reflexes in the calf muscles do not cause postural instability in patients with hereditary spastic paraplegia.

van Lith BJH, de Niet M, van de Warrenburg BPC, Geurts AC, Weerdesteyn V.

Clin Neurophysiol. 2019 Aug;130(8):1188-1195. doi: 10.1016/j.clinph.2019.05.005. Epub 2019 May 11.

6.

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
7.

Network localization of cervical dystonia based on causal brain lesions.

Corp DT, Joutsa J, Darby RR, Delnooz CCS, van de Warrenburg BPC, Cooke D, Prudente CN, Ren J, Reich MM, Batla A, Bhatia KP, Jinnah HA, Liu H, Fox MD.

Brain. 2019 Jun 1;142(6):1660-1674. doi: 10.1093/brain/awz112.

PMID:
31099831
8.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
9.

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

van Lith BJH, den Boer J, van de Warrenburg BPC, Weerdesteyn V, Geurts AC.

J Rehabil Med. 2019 Jun 18;51(6):434-441. doi: 10.2340/16501977-2556.

10.

The Waiting Room: neurological observations made outside the movement disorder specialist's consulting office.

Araújo R, van de Warrenburg B, Lang A, Lees A, Bloem B.

Pract Neurol. 2019 Aug;19(4):295-301. doi: 10.1136/practneurol-2018-002110. Epub 2019 Mar 14. Review.

PMID:
30872358
11.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP.

J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28.

PMID:
30819809
12.

The Shaking Shoelace.

Bloem BR, Helmich RC, Tilanus T, van de Warrenburg BP.

J Parkinsons Dis. 2019;9(1):249-250. doi: 10.3233/JPD-181541. No abstract available.

13.

"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
14.

Integrative network and brain expression analysis reveals mechanistic modules in ataxia.

Eidhof I, van de Warrenburg BP, Schenck A.

J Med Genet. 2019 May;56(5):283-292. doi: 10.1136/jmedgenet-2018-105703. Epub 2018 Dec 27.

15.

Billiards-related dystonia: A new task-specific dystonia.

Smilowska K, Domingos J, Pasman JW, van Wamelen DJ, van de Warrenburg BP, Bloem BR.

Parkinsonism Relat Disord. 2019 Mar;60:10-11. doi: 10.1016/j.parkreldis.2018.12.018. Epub 2018 Dec 24.

PMID:
30591348
16.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.

Eur J Med Genet. 2018 Dec 17. pii: S1769-7212(18)30416-6. doi: 10.1016/j.ejmg.2018.12.010. [Epub ahead of print]

PMID:
30572172
17.

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE.

Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394.

18.

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M.

Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29.

PMID:
30522958
19.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A.

Neurology. 2019 Jan 8;92(2):e83-e95. doi: 10.1212/WNL.0000000000006731. Epub 2018 Dec 7.

PMID:
30530799
20.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30.

PMID:
30504431
21.

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers.

van Gaalen J, Maas RPPWM, Ippel EF, Elting MW, van Spaendonck-Zwarts KY, Vermeer S, Verschuuren-Bemelmans C, Timmann D, van de Warrenburg BP.

Exp Brain Res. 2019 Feb;237(2):427-433. doi: 10.1007/s00221-018-5424-y. Epub 2018 Nov 14.

22.

SnapShot: Biology of Genetic Ataxias.

Eidhof I, van de Warrenburg BP, Schenck A.

Cell. 2018 Oct 18;175(3):890-890.e1. doi: 10.1016/j.cell.2018.10.017. Review.

PMID:
30340048
23.

StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration.

van Lith BJH, Coppens MJM, Nonnekes J, van de Warrenburg BPC, Geurts AC, Weerdesteyn V.

J Neurol. 2018 Nov;265(11):2531-2539. doi: 10.1007/s00415-018-9027-0. Epub 2018 Aug 28.

24.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP.

Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.

PMID:
30084953
25.

Movement disorders in cerebrotendinous xanthomatosis.

Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A.

Parkinsonism Relat Disord. 2019 Jan;58:12-16. doi: 10.1016/j.parkreldis.2018.07.006. Epub 2018 Jul 19. Review.

PMID:
30054180
26.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.

PMID:
29959555
27.

The genetic nomenclature of recessive cerebellar ataxias.

Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2018 Jul;33(7):1056-1076. doi: 10.1002/mds.27415. Epub 2018 May 14. Review.

PMID:
29756227
28.

The patchy tremor landscape: recent advances in pathophysiology.

Nieuwhof F, Panyakaew P, van de Warrenburg BP, Gallea C, Helmich RC.

Curr Opin Neurol. 2018 Aug;31(4):455-461. doi: 10.1097/WCO.0000000000000582. Review.

PMID:
29750732
29.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.

Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30.

30.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
31.

[The yips: a movement disorder among golfers].

van Wensen E, van de Warrenburg BP.

Ned Tijdschr Geneeskd. 2018;162:D2204. Dutch.

PMID:
29328016
32.

Author response: l-Dopa in dystonia: A modern perspective.

Maas RPPWM, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2018 Jan 2;90(1):47. doi: 10.1212/WNL.0000000000004783. No abstract available.

PMID:
29284656
33.

High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay.

Eidhof I, Fenckova M, Elurbe DM, van de Warrenburg B, Castells Nobau A, Schenck A.

J Vis Exp. 2017 Nov 5;(129). doi: 10.3791/55892.

34.

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
35.

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.

Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21.

PMID:
29059497
36.

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS.

Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251.

PMID:
29053796
37.

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T.

Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.

PMID:
28794257
38.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S.

Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct.

39.

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C.

Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. No abstract available.

PMID:
28513081
40.

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia.

Nonnekes J, van Lith B, van de Warrenburg BP, Weerdesteyn V, Geurts ACH.

J Rehabil Med. 2017 May 16;49(5):369-377. doi: 10.2340/16501977-2227. Review.

41.

l-Dopa in dystonia: A modern perspective.

Maas RPPWM, Wassenberg T, Lin JP, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2017 May 9;88(19):1865-1871. doi: 10.1212/WNL.0000000000003897. Epub 2017 Apr 7. Review.

PMID:
28389587
42.

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.

43.

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.

44.

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.

45.

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.

Feil K, Adrion C, Teufel J, Bösch S, Claassen J, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Stendel C, Uslar E, van de Warrenburg B, Berger I, Naumann I, Bayer O, Müller HH, Mansmann U, Strupp M.

BMC Neurol. 2017 Jan 10;17(1):7. doi: 10.1186/s12883-016-0786-x.

46.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.

47.

The clinical heterogeneity of drug-induced myoclonus: an illustrated review.

Janssen S, Bloem BR, van de Warrenburg BP.

J Neurol. 2017 Aug;264(8):1559-1566. doi: 10.1007/s00415-016-8357-z. Epub 2016 Dec 16. Review.

48.

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2016 Nov;31(11):1760-1762. doi: 10.1002/mds.26763. Epub 2016 Sep 13. No abstract available.

PMID:
27619077
49.

The Symptomatic Treatment of Acquired Dystonia: A Systematic Review.

van den Heuvel CNAM, Tijssen MAJ, van de Warrenburg BPC, Delnooz CCS.

Mov Disord Clin Pract. 2016 Aug 3;3(6):548-558. doi: 10.1002/mdc3.12400. eCollection 2016 Nov-Dec. Review.

50.

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.

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