Ter Laak H - Search Results

1

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: ter laak h. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

2

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.

Smits BW, Hol FA, van den Heuvel LP, Drost G, Rodenburg RJ, Ter Laak HJ, van Engelen BG. Smits BW, et al. Among authors: ter laak hj. J Neurol. 2007 Nov;254(11):1614-5. doi: 10.1007/s00415-007-0608-6. Epub 2007 Nov 2. J Neurol. 2007. PMID: 17965958 No abstract available.

3

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Morava E, et al. Among authors: ter laak h. Eur J Pediatr. 2004 Aug;163(8):467-71. doi: 10.1007/s00431-004-1465-2. Epub 2004 May 27. Eur J Pediatr. 2004. PMID: 15168109

4

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. de Vries MC, et al. Among authors: ter laak h. Eur J Pediatr. 2007 Mar;166(3):229-34. doi: 10.1007/s00431-006-0234-9. Epub 2006 Sep 7. Eur J Pediatr. 2007. PMID: 16957900

5

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.

Rubio-Gozalbo ME, Smeitink JA, Ruitenbeek W, Ter Laak H, Mullaart RA, Schuelke M, Mariman EC, Sengers RC, Gabreëls FJ. Rubio-Gozalbo ME, et al. Among authors: ter laak h. Neurology. 1999 Jan 15;52(2):383-6. doi: 10.1212/wnl.52.2.383. Neurology. 1999. PMID: 9932961

6

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Grafakou O, et al. Among authors: ter laak h. J Inherit Metab Dis. 2003;26(6):593-600. doi: 10.1023/a:1025960300710. J Inherit Metab Dis. 2003. PMID: 14605505

7

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.

Bentlage HA, Wendel U, Schägger H, ter Laak HJ, Janssen AJ, Trijbels JM. Bentlage HA, et al. Among authors: ter laak hj. Neurology. 1996 Jul;47(1):243-8. doi: 10.1212/wnl.47.1.243. Neurology. 1996. PMID: 8710086 Free article.

8

Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.

Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP. Huizing M, et al. Among authors: ter laak hj. Pediatr Res. 1996 May;39(5):760-5. doi: 10.1203/00006450-199605000-00003. Pediatr Res. 1996. PMID: 8726225 Free article.

9

Genetic characteristics of myoadenylate deaminase deficiency.

Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: ter laak hj. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.

10

Images in neurology. Tubular aggregates: their continuity with sarcoplasmic reticulum.

van Engelen BG, Ter Laak HJ. van Engelen BG, et al. Among authors: ter laak hj. Arch Neurol. 1999 Nov;56(11):1410-1. doi: 10.1001/archneur.56.11.1410. Arch Neurol. 1999. PMID: 10555663 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

121 results

Search Page