Sengers RC - 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: sengers rc. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

2

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, Ruitenbeek W, Trijbels FJ, Valsson J, Sigfusson G, Palmieri F, Smeitink JA. Jordens EZ, et al. Among authors: sengers rc. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053

3

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Janssen AJ, et al. Among authors: sengers rc. Clin Chem. 2006 May;52(5):860-71. doi: 10.1373/clinchem.2005.062414. Epub 2006 Mar 16. Clin Chem. 2006. PMID: 16543390 Free article.

4

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

Janssen AJ, Trijbels FJ, Sengers RC, Smeitink JA, van den Heuvel LP, Wintjes LT, Stoltenborg-Hogenkamp BJ, Rodenburg RJ. Janssen AJ, et al. Among authors: sengers rc. Clin Chem. 2007 Apr;53(4):729-34. doi: 10.1373/clinchem.2006.078873. Epub 2007 Mar 1. Clin Chem. 2007. PMID: 17332151 Free article.

5

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. Ann Neurol. 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m. Ann Neurol. 2001. PMID: 11220739

6

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. 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

7

Maturation of mitochondrial and other isoenzymes of creatine kinase in skeletal muscle of preterm born infants.

Smeitink J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Wevers R, Sperl W, de Graaf R. Smeitink J, et al. Ann Clin Biochem. 1992 May;29 ( Pt 3):302-6. doi: 10.1177/000456329202900309. Ann Clin Biochem. 1992. PMID: 1319128

8

A method for quantitative measurement of mitochondrial creatine kinase in human skeletal muscle.

Smeitink J, Wevers R, Hulshof J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Korenke C, Wallimann T. Smeitink J, et al. Ann Clin Biochem. 1992 Mar;29 ( Pt 2):196-201. doi: 10.1177/000456329202900213. Ann Clin Biochem. 1992. PMID: 1626924

9

Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.

Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al. Bentlage H, et al. Eur J Biochem. 1995 Feb 1;227(3):909-15. doi: 10.1111/j.1432-1033.1995.tb20218.x. Eur J Biochem. 1995. PMID: 7867654 Free article.

10

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

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