Cobben JM - Search Results

1

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, Meester-Delver A, Poll-The BT, Lemmink HH, Wokke JH, van der Pol WL, van den Berg LH. Piepers S, et al. Among authors: cobben jm. J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):850-2. doi: 10.1136/jnnp.2009.200253. Epub 2010 Jun 15. J Neurol Neurosurg Psychiatry. 2011. PMID: 20551479

2

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH. Stalpers XL, et al. Among authors: cobben jm. Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6. Neuromuscul Disord. 2013. PMID: 23566544

3

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.

Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM. Menke LA, et al. Among authors: cobben jm. Am J Med Genet A. 2008 Mar 15;146A(6):740-4. doi: 10.1002/ajmg.a.32233. Am J Med Genet A. 2008. PMID: 18266240 Review.

4

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.

Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H. Veldink JH, et al. Among authors: cobben jm. Neurology. 2001 Mar 27;56(6):749-52. doi: 10.1212/wnl.56.6.749. Neurology. 2001. PMID: 11274309

5

Clinical utility gene card for: proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K. Rudnik-Schöneborn S, et al. Among authors: cobben jm. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510849 Free PMC article. No abstract available.

6

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K. Rudnik-Schöneborn S, et al. Among authors: cobben jm. Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20. Eur J Hum Genet. 2015. PMID: 25990799 Free PMC article. No abstract available.

7

Survival in SMA type I: a prospective analysis of 34 consecutive cases.

Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M. Cobben JM, et al. Neuromuscul Disord. 2008 Jul;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008. Epub 2008 Jun 24. Neuromuscul Disord. 2008. PMID: 18579378

8

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Barth PG, Majoie CB, Caan MW, Weterman MA, Kyllerman M, Smit LM, Kaplan RA, Haas RH, Baas F, Cobben JM, Poll-The BT. Barth PG, et al. Among authors: cobben jm. Brain. 2007 Sep;130(Pt 9):2258-66. doi: 10.1093/brain/awm188. Epub 2007 Aug 9. Brain. 2007. PMID: 17690130

9

Best practice guidelines for molecular analysis in spinal muscular atrophy.

Scheffer H, Cobben JM, Matthijs G, Wirth B. Scheffer H, et al. Among authors: cobben jm. Eur J Hum Genet. 2001 Jul;9(7):484-91. doi: 10.1038/sj.ejhg.5200667. Eur J Hum Genet. 2001. PMID: 11464239 Review.

10

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

Cobben JM, de Visser M, Scheffer H, Osinga J, van der Steege G, Buys CH, van Ommen GJ, ten Kate LP. Cobben JM, et al. J Neurol Neurosurg Psychiatry. 1993 Mar;56(3):319-21. doi: 10.1136/jnnp.56.3.319. J Neurol Neurosurg Psychiatry. 1993. PMID: 8459253 Free PMC article.

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