Smeitink JAM - Search Results

1

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ. Baertling F, et al. Among authors: smeitink jam. Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21. Clin Genet. 2018. PMID: 28671271

2

Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.

Ausems MG, Kroos MA, Van der Kraan M, Smeitink JA, Kleijer WJ, Ploos van Amstel HK, Reuser AJ. Ausems MG, et al. Clin Genet. 1996 Jun;49(6):325-8. doi: 10.1111/j.1399-0004.1996.tb03801.x. Clin Genet. 1996. PMID: 8884087

3

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

van Diggelen OP, Zaremba J, He W, Keulemans JL, Boer AM, Reuser AJ, Ausems MG, Smeitink JA, Kowalczyk J, Pronicka E, Rokicki D, Tarnowska-Dziduszko E, Kneppers AL, Bakker E. van Diggelen OP, et al. Clin Genet. 1996 Nov;50(5):310-6. doi: 10.1111/j.1399-0004.1996.tb02380.x. Clin Genet. 1996. PMID: 9007316

4

Clinical heterogeneity in respiratory chain complex III deficiency in childhood.

Mourmans J, Wendel U, Bentlage HA, Trijbels JM, Smeitink JA, de Coo IF, Gabreëls FJ, Sengers RC, Ruitenbeek W. Mourmans J, et al. J Neurol Sci. 1997 Jul;149(1):111-7. doi: 10.1016/s0022-510x(97)05379-3. J Neurol Sci. 1997. PMID: 9168175

5

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

Smeitink JA, Loeffen JL, Triepels RH, Smeets RJ, Trijbels JM, van den Heuvel LP. Smeitink JA, et al. Hum Mol Genet. 1998;7(10):1573-9. doi: 10.1093/hmg/7.10.1573. Hum Mol Genet. 1998. PMID: 9735378 Review.

6

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.

Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L. Smeitink J, et al. Hum Genet. 1998 Aug;103(2):245-50. doi: 10.1007/s004390050813. Hum Genet. 1998. PMID: 9760212

7

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

8

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.

Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J. Triepels R, et al. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

9

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. Coenen MJ, et al. Biochem Biophys Res Commun. 1999 Nov 19;265(2):339-44. doi: 10.1006/bbrc.1999.1662. Biochem Biophys Res Commun. 1999. PMID: 10558868

10

Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.

Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich MF, Smeitink JA, Capaldi RA. Triepels RH, et al. J Biol Chem. 2001 Mar 23;276(12):8892-7. doi: 10.1074/jbc.M009903200. Epub 2000 Dec 8. J Biol Chem. 2001. PMID: 11112787 Free article.

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