J.A.M. Smeitink: search on Z-Library

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1

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

Smits, Paulien, Smeitink, Jan, van den Heuvel, Lambert

Journal:

Journal of Biomedicine and Biotechnology

Year:

2010

Language:

english

File:

PDF, 1.06 MB

english, 2010

2

A Note on "Operating Characteristics of the (S - 1, S) Inventory System with Partial Backorders and Constant Resupply Times"

Journal:

Management Science

Year:

1990

Language:

english

File:

PDF, 166 KB

english, 1990

3

Early cardiac involvement in children carrying the A3243G mtDNA mutation

S.B. Wortmann, R. Rodenburg, F. Hol, J. Smeitink, E. Morava

Journal:

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

4

Optimizing patient care and outcome measures: which complaints are most burdensome to patients and their parents?

Saskia Koene, Saskia Wortmann, Eva Morava, Maaike de Vries, Jan Smeitink

Journal:

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

5

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Monique M. P. Hermans, Marian A. Kroos, Jan A. M. Smeitink, Ans T. van der Ploeg, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

6

Molecular base of biochemical complex I deficiency

Saskia J.G. Hoefs, Richard J. Rodenburg, Jan A.M. Smeitink, Lambert P. van den Heuvel

Journal:

Year:

2012

Language:

english

File:

PDF, 742 KB

english, 2012

7

80 Lateral-flow “dipstick” immunoassays rapidly identify and quantitate mitochondrial Complex I and Complex IV deficiencies

J. Willis, J. Smeitink, M. Huigsloot, R. Rodenburg, R.A. Capaldi, M.F. Marusich

Journal:

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

8

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

Koene, Saskia, Spaans, Edwin, Van Bortel, Luc, Van Lancker, Griet, Delafontaine, Brant, Badilini, Fabio, Beyrath, Julien, Smeitink, Jan

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 741 KB

english, 2017

9

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Ramakers, Rob, Koene, Saskia, Groothuis, Jan T., de Laat, Paul, Janssen, Mirian C. H., Smeitink, Jan

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 222 KB

english, 2017

10

136 Decreased ATP production in skin fibroblasts of children with POLG1 mutations

Maaike C. de Vries, Federica Valsecchi, Richard J. Rodenburg, Lambert P.W. van den Heuvel, Peter H. Willems, Jan A.M. Smeitink

Journal:

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

11

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk

J.M.P. Van den Hout, A.J.J. Reuser, J.B.C. de Klerk, W.F. Arts, J.A.M. Smeitink, A.T. Van der Ploeg

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

12

Mitochondrial disease criteria: Diagnostic applications in children

Morava, E., van den Heuvel, L., Hol, F., de Vries, M. C., Hogeveen, M., Rodenburg, R. J., Smeitink, J.A.M.

Journal:

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

13

Mitochondrial myopathy biomarker Fibroblast growth factor 21 is induced by muscle mtDNA instability and translation defects

Lehtonen, Jenni M., Forsström, Saara, Viscomi, Carlo, Zeviani, Massimo, Moraes, Carlos, Nakada, Kazuto, Smeitink, Jan, Wiesner, Rudolf J., Baris, Olivier, Isoniemi, Helena, Höckerstedt, Krister, Öster

Journal:

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

14

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, Roel Smeets, Frans Trijbels, Hans H. Goebel, Nils Bosshard, Andrea Superti-Furga, Beat Steinmann, Jan Smeitink

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 345 KB

english, 2003

15

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

L.P. van den Heuvel, J.A. Smeitink, R.J.T. Rodenburg

Journal:

Year:

2004

Language:

english

File:

PDF, 159 KB

english, 2004

16

Implementing guided ICBT for chronic pain and fatigue: A qualitative evaluation among therapists and managers

van der Vaart, Rosalie, Worm-Smeitink, Margreet, Bos, Yvonne, Wensing, Michel, Evers, Andrea, Knoop, Hans

Journal:

Internet Interventions

Year:

2019

Language:

english

File:

PDF, 1.22 MB

english, 2019

17

Mitochondrial Medicine, Salvatore DiMauro, Michio Hirano, Eric A. Schon (Eds.) Informa Healthcare, 2006, United Kingdom, ISBN 10: 1842142887 and ISBN 13: 978842142882.

Jan A.M. Smeitink

Journal:

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

18

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

O.P. van Diggelen, J. Zaremba, Wang He, J. L. M. Keulemans, A. M. Boer, A. J. J. Reuser, M. G. E. M. Ausems, J. A. M. Smeitink, J. Kowalczyk, E. Pronicka, D. Rokicki, E. Tarnowska-Dziduszko, A. L. J.

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 751 KB

english, 1996

19

A guide to diagnosis and treatment of Leigh syndrome

Baertling, F., Rodenburg, R. J., Schaper, J., Smeitink, J. A., Koopman, W. J. H., Mayatepek, E., Morava, E., Distelmaier, F.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2014

Language:

english

File:

PDF, 217 KB

english, 2014

20

A Note on “Operating Characteristics of the (S-1, S) Inventory System with Partial Backorders and Constant Resupply Times”

Journal:

Management Science

Year:

1990

Language:

english

File:

PDF, 129 KB

english, 1990

21

Short fatigue questionnaire: Screening for severe fatigue.

Penson, Adriaan, van Deuren, Sylvia, Worm-Smeitink, Margreet, Bronkhorst, Ewald, van den Hoogen, Frank H.J., van Engelen, Baziel G.M., Peters, Marlies, Bleijenberg, Gijs, Vercoulen, Jan H., Blijlevens

Journal:

Journal of Psychosomatic Research

Year:

2020

File:

PDF, 594 KB

2020

22

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Juhl Corydon, Morten, Vockley, Jerry, Rinaldo, Piero, James Rhead, William, Kjeldsen, Margrethe, Winter, Vibeke, Riggs, Charles, Babovic-Vuksanovic, Dusica, Smeitink, Jan, De Jong, Jan, Levy, Harvey,

Journal:

Pediatric Research

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

23

63. Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

S. Koene, T.L. Kozicz, R.J.T. Rodenburg, C.M. Verhaak, M.C. Vries de, L. de Heuvel van, J.A.M. Smeitink, E. Morava

Journal:

Year:

2009

Language:

english

File:

PDF, 47 KB

english, 2009

24

Pharmacological targeting of mitochondrial complex I deficiency: The cellular level and beyond

Peggy Roestenberg, Ganesh R. Manjeri, Federica Valsecchi, Jan A.M. Smeitink, Peter H.G.M. Willems, Werner J.H. Koopman

Journal:

Year:

2012

Language:

english

File:

PDF, 410 KB

english, 2012

25

Primary fibroblasts of NDUFS4−/− mice display increased ROS levels and aberrant mitochondrial morphology

Valsecchi, Federica, Grefte, Sander, Roestenberg, Peggy, Joosten-Wagenaars, Jori, Smeitink, Jan A.M., Willems, Peter H.G.M., Koopman, Werner J.H.

Journal:

Year:

2013

Language:

english

File:

PDF, 798 KB

english, 2013

26

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

A. B. P. Van Kuilenburg, P. Vreken, N. G. G. M. Abeling, H. D. Bakker, R. Meinsma, H. Van Lenthe, R. A. De Abreu, J. A. M. Smeitink, H. Kayserili, M. Y. Apak, E. Christensen, I. Holopainen, K. Pulkki,

Journal:

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

27

37 Mitochondrial dynamics and function

Werner J.H. Koopman, Leo G. Nijtmans, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

28

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency

Peter H.G.M. Willems, Federica Valsecchi, Felix Distelmaier, Sjoerd Verkaart, Henk-Jan Visch, Jan A.M. Smeitink, Werner J.H. Koopman

Journal:

Year:

2008

Language:

english

File:

PDF, 642 KB

english, 2008

29

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 463 KB

english, 2016

30

46 Functional characterization of energy deficient myoblasts and myotubes

M. Huigsloot, A.I. Jonckheere, A.J.M. Janssen, A. Kappen, J.A.M. Smeitink, R.J.T. Rodenburg

Journal:

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

31

47 Measurement of mitochondrial oxygen consumption using a fluorescence-based oxygen-sensitive probe: Application to mitochondrial medicine

A.I. Jonckheere, M. Huigsloot, A.J.M. Janssen, A. Kappen, J.A.M. Smeitink, R.J.T. Rodenburg

Journal:

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

32

Fear of disease progression in carriers of the m.3243A > G mutation

Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 572 KB

english, 2018

33

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase γ (POLG) mutations

M.C. de Vries, R.J. Rodenburg, E. Moraval, E.P.M. van Kaauwen, H. Ter Laak, R.A. Mullaart, I.N. Snoeck, P.M. van Hasselt, P. Harding, L.P.W. van den Heuvel, J.A.M. Smeitink

Journal:

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

34

Six minute bicycling test in children with mitochondrial disorders: Feasibility, reliability, validity and responsivity

Koene, Saskia, Jansen, Merel, Wortmann, Saskia B., de Vries, Maaike C., de Groot, Imelda J.M., Smeitink, Jan

Journal:

Year:

2013

Language:

english

File:

PDF, 70 KB

english, 2013

35

24 Reconstructing the tempestuous evolution of the mitochondrial ribosomal proteome

Paulien Smits, Jan A.M. Smeitink, Lambert P. van den Heuvel, Martijn A. Huynen, Thijs J.G. Ettema

Journal:

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

36

Life cell quantification of mitochondrial membrane potential at the single organelle level

Felix Distelmaier, Werner J. H. Koopman, Epifania R. Testa, Arjan S. de Jong, Herman G. Swarts, Ertan Mayatepek, Jan A. M. Smeitink, Peter H. G. M. Willems

Journal:

Cytometry Part A

Year:

2008

Language:

english

File:

PDF, 782 KB

english, 2008

37

Smith-Lemli-Opitz Syndrome and the DHCR7 Gene

P. E. Jira, H. R. Waterham, R. J. A. Wanders, J. A. M. Smeitink, R. C. A. Sengers, R. A. Wevers

Journal:

Annals of Human Genetics

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

38

Assisted 6-minute cycling test: An exploratory study in children

Dirks, Ilse, Koene, Saskia, Verbruggen, Renee, Smeitink, Jan A.M., Jansen, Merel, Groot, Imelda J.M. De

Journal:

Year:

2016

Language:

english

File:

PDF, 240 KB

english, 2016

39

26 A novel mitochondrial ATP 8 (MT-ATP8) gene mutation in a patient with neuropathy and cardiomyopathy

A.I. Jonckheere, M. Hogeveen, L.G.J. Nijtmans, M.A. van den Brand, A.J.M. Janssen, H. Diepstra, F.C.A. van den brandt, L.P. van den Heuvel, F. Hol, M.H. Siers, J.A.M. Smeitink, R. Rodenburg

Journal:

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

40

Application of a Ketogenic Diet in Children With Autistic Behavior: Pilot Study

Evangeliou, A., Vlachonikolis, I., Mihailidou, H., Spilioti, M., Skarpalezou, A., Makaronas, N., Prokopiou, A., Christodoulou, P., Liapi-Adamidou, G., Helidonis, E., Sbyrakis, S., Smeitink, J.

Journal:

Journal of Child Neurology

Year:

2003

Language:

english

File:

PDF, 456 KB

english, 2003

41

Towards harmonization of outcome measures in children with mitochondrial disorders

Koene, Saskia, Jansen, Merel, Verhaak, Chris M., de Vrueh, Remco L.A., de Groot, Imelda J.M., Smeitink, Jan A.M.

Journal:

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

42

Psychological functioning in children suspected for mitochondrial disease: the need for care

van de Loo, Kim F. E., Custers, JosÃ© A. E., Koene, Saskia, Klein, Inge-Lot, Janssen, Mirian C. H., Smeitink, Jan A. M., Verhaak, Christianne M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

Language:

english

File:

PDF, 556 KB

english, 2020

43

Complex I disorders: Causes, mechanisms, and development of treatment strategies at the cellular level

Federica Valsecchi, Werner J.H. Koopman, Ganesh R. Manjeri, Richard J. Rodenburg, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Development Diabilities Research Reviews

Year:

2010

Language:

english

File:

PDF, 675 KB

english, 2010

44

Cerebrospinal fluid organic acids in biotinidase deficiency

M. Duran, E. R. Baumgartner, T. M. Suormala, L. Bruinvis, L. Dorland, J. A. M. Smeitink, B. T. Poll-The

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 228 KB

english, 1993

45

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

J. Smeitink, W. Ruitenbeek, R. Sengers, R. Wevers, T. Lith, F. Trijbels

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 369 KB

english, 1994

46

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

S.M.S. Budde, L.P.W.J. van den Heuvel, A.J. Janssen, R.J.P. Smeets, C.A.F. Buskens, L. DeMeirleir, R. Van Coster, M. Baethmann, T. Voit, J.M.F. Trijbels, J.A.M. Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000

47

A scale to monitor progression and treatment of mitochondrial disease in children

C. Phoenix, A.M. Schaefer, J.L. Elson, E. Morava, M. Bugiani, G. Uziel, J.A. Smeitink, D.M. Turnbull, R. McFarland

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

48

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases

Breuer, M.E., Koopman, W.J., Koene, S., Nooteboom, M., Rodenburg, R.J., Willems, P.H., Smeitink, J.A.M.

Journal:

Neurobiology of Disease

Year:

2013

Language:

english

File:

PDF, 568 KB

english, 2013

49

Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

Morava, Eva, Hogeveen, Marije, De Vries, Maaike, Ruitenbeek, Wim, de Boode, Willem-Pieter, Smeitink, Jan

Journal:

Biology of the Neonate

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

50

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Janssen, A. J.M., Trijbels, F. J.M., Sengers, R. C.A., Smeitink, J. A.M., van den Heuvel, L. P., Wintjes, L. T.M., Stoltenborg-Hogenkamp, B. J.M., Rodenburg, R. J.T.

Journal:

Clinical Chemistry

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

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