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Items: 44

1.

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.

Stunnenberg BC, Raaphorst J, Deenen JCW, Links TP, Wilde AA, Verbove DJ, Kamsteeg EJ, van den Wijngaard A, Faber CG, van der Wilt GJ, van Engelen BGM, Drost G, Ginjaar HB.

Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9.

PMID:
29606556
2.

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

Straathof CS, Van Heusden D, Ippel PF, Post JG, Voermans NC, De Visser M, Brusse E, Van Den Bergen JC, Van Der Kooi AJ, Verschuuren JJ, Ginjaar HB.

Muscle Nerve. 2016 Jan;53(1):44-8. doi: 10.1002/mus.24691. Epub 2015 Jun 3.

PMID:
25900853
3.

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P.

J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4.

4.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

van den Bergen JC, Ginjaar HB, van Essen AJ, Pangalila R, de Groot IJ, Wijkstra PJ, Zijnen MP, Cobben NA, Kampelmacher MJ, Wokke BH, de Coo IF, Fock JM, Horemans AM, van Tol M, Vroom E, Rijlaarsdam ME, Straathof CS, Niks EH, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):99-109.

PMID:
27858664
5.

Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping.

van den Bergen JC, Ginjaar HB, Niks EH, Aartsma-Rus A, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):91-94.

PMID:
27858662
6.

Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, van Deutekom JC, Aartsma-Rus A, Kan HE, Verschuuren JJ.

J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):747-53. doi: 10.1136/jnnp-2013-306350. Epub 2013 Nov 29.

PMID:
24292997
7.

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA.

Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7.

PMID:
24000151
8.

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB.

J Neurol Neurosurg Psychiatry. 2014 Jan;85(1):92-8. doi: 10.1136/jnnp-2012-304729. Epub 2013 May 10.

PMID:
23667215
9.

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M.

Eur J Neurol. 2013 Jun;20(6):968-74. doi: 10.1111/ene.12129. Epub 2013 Mar 26.

PMID:
23530687
10.

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.

Helderman-van den Enden AT, Madan K, Breuning MH, van der Hout AH, Bakker E, de Die-Smulders CE, Ginjaar HB.

Eur J Hum Genet. 2013 Jan;21(1):21-6. doi: 10.1038/ejhg.2012.101. Epub 2012 Jun 6.

11.

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).

Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmüller H, Ginjaar HB, Aartsma-Rus AM, van Ommen GJ, den Dunnen JT, 't Hoen PA.

Neuromuscul Disord. 2011 Aug;21(8):569-78. doi: 10.1016/j.nmd.2011.05.011. Epub 2011 Jul 2.

12.

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB.

Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11.

PMID:
21070212
13.

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB.

Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13.

PMID:
20153965
14.

Isolated eyelid closure myotonia in two families with sodium channel myotonia.

Stunnenberg BC, Ginjaar HB, Trip J, Faber CG, van Engelen BG, Drost G.

Neurogenetics. 2010 May;11(2):257-60. doi: 10.1007/s10048-009-0225-x. Epub 2009 Oct 30.

15.

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E.

Clin Genet. 2009 May;75(5):465-72.

PMID:
19475718
16.

Health status in non-dystrophic myotonias: close relation with pain and fatigue.

Trip J, de Vries J, Drost G, Ginjaar HB, van Engelen BG, Faber CG.

J Neurol. 2009 Jun;256(6):939-47. doi: 10.1007/s00415-009-5049-y. Epub 2009 Mar 1.

17.

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

Trip J, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de Visser M, van Engelen BG, Faber CG.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):647-52. doi: 10.1136/jnnp.2008.162396. Epub 2009 Feb 11.

PMID:
19211598
18.

Thought ripples on muscle waves: recognition of rippling muscle disease.

Voermans NC, van Alfen N, Drost G, Ginjaar HB, Willemsen MA.

Neuropediatrics. 2008 Apr;39(2):116-8. doi: 10.1055/s-2008-1081466.

PMID:
18671188
19.

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM.

Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8.

PMID:
18400034
20.

[Familial hemiplegic migraine resulting in recurrent coma].

Lee H, Aramideh M, Ginjaar HB.

Ned Tijdschr Geneeskd. 2008 Feb 16;152(7):393-6. Dutch.

PMID:
18380388
21.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
22.

Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

Trip J, Faber CG, Ginjaar HB, van Engelen BG, Drost G.

J Neurol. 2007 Feb;254(2):257-8. Epub 2007 Mar 2. No abstract available.

23.

[A girl with hereditary myotonia due to an exceptional sodium channel mutation].

van den Bergen JC, Verbruggen KT, Ginjaar HB, Kerstjens-Frederikse WS.

Ned Tijdschr Geneeskd. 2006 Nov 11;150(45):2501-6. Dutch.

PMID:
17137100
24.

Duplications in the DMD gene.

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT.

Hum Mutat. 2006 Sep;27(9):938-45.

PMID:
16917894
25.

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B.

Neuropediatrics. 2005 Dec;36(6):389-94.

PMID:
16429380
26.

[The spectrum of hereditary skeletal-muscle channelopathies].

Trip J, Drost G, Ginjaar HB, van Engelen BG, Faber CG.

Ned Tijdschr Geneeskd. 2005 Sep 17;149(38):2093-8. Review. Dutch.

PMID:
16201598
27.

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.

Kors EE, Melberg A, Vanmolkot KR, Kumlien E, Haan J, Raininko R, Flink R, Ginjaar HB, Frants RR, Ferrari MD, van den Maagdenberg AM.

Neurology. 2004 Sep 28;63(6):1136-7. No abstract available.

PMID:
15452324
28.

[From gene to diseases; hypokalemic periodic paralysis].

Links TP, Ginjaar HB, van der Hoeven JH.

Ned Tijdschr Geneeskd. 2004 May 22;148(21):1035-8. Review. Dutch.

PMID:
15185439
29.

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M.

Neuromuscul Disord. 2003 May;13(4):317-21.

PMID:
12868501
30.

[The heartache of muscular dystrophy].

Hoogerwaard EM, Ginjaar HB, Wilde AA, Leschot NJ, de Voogt WG, de Visser M.

Ned Tijdschr Geneeskd. 2000 Nov 11;144(46):2181-4. Review. Dutch.

PMID:
11103252
31.

Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis.

Peelen T, de Leeuw W, van Lent K, Morreau H, van Eijk R, van Vliet M, Wijnen J, Ligtenberg M, Ginjaar HB, Zweemer R, Menko F, Fodde R, van Ommen GJ, Vasen HF, Cornelisse CJ, Devilee P.

Int J Cancer. 2000 Dec 1;88(5):778-82.

32.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ.

J Neurol. 2000 Jul;247(7):524-9.

PMID:
10993494
33.

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS.

Am J Hum Genet. 1999 Jun;64(6):1524-40.

34.

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA.

Neuromuscul Disord. 1998 Jun;8(5):305-8.

PMID:
9673983
35.

Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation.

van der Kooi AJ, Ginjaar HB, Busch HF, Wokke JH, Barth PG, de Visser M.

Muscle Nerve. 1998 May;21(5):584-90.

PMID:
9572237
36.

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Höweler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M.

Brain. 1996 Oct;119 ( Pt 5):1471-80.

PMID:
8931572
37.

Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins.

Roest PA, van der Tuijn AC, Ginjaar HB, Hoeben RC, Hoger-Vorst FB, Bakker E, den Dunnen JT, van Ommen GJ.

Neuromuscul Disord. 1996 May;6(3):195-202.

PMID:
8784808
38.

[Application of combined DNA and dystrophin protein analysis in the diagnosis of Duchenne's and Becker's muscular dystrophy in 102 Dutch patients].

Ginjaar HB, Bakker E, Busch HF, Moorman AF, de Visser M, van Ommen JB.

Ned Tijdschr Geneeskd. 1993 Jan 9;137(2):68-75. Dutch.

PMID:
8421530
39.

Construction of dystrophin fusion proteins to raise targeted antibodies to different epitopes.

Ginjaar HB, van Paassen HB, den Dunnen JT, Man NT, Morris GE, Moorman AF, van Ommen GJ.

FEBS Lett. 1992 Aug 24;308(3):293-7.

40.

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ.

Am J Hum Genet. 1989 Dec;45(6):835-47.

41.

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

Blonden LA, den Dunnen JT, van Paassen HM, Wapenaar MC, Grootscholten PM, Ginjaar HB, Bakker E, Pearson PL, van Ommen GJ.

Nucleic Acids Res. 1989 Jul 25;17(14):5611-21.

42.

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.

van Ommen GJ, Bertelson C, Ginjaar HB, den Dunnen JT, Bakker E, Chelly J, Matton M, van Essen AJ, Bartley J, Kunkel LM, et al.

Genomics. 1987 Dec;1(4):329-36.

PMID:
2896627
43.

Amino acid incorporation in a cell-free system derived from rat liver studied with the aid of selenodiglutathione.

Vernie LN, Ginjaar HB, Wilders IT, Bont WS.

Biochim Biophys Acta. 1978 May 23;518(3):507-17.

PMID:
656431
44.

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