Biochemical diagnosis of mitochondrial disorders

Por Rodenburg, Richard J. T.
Publicado em 2010

Mitochondrial ATP synthase: architecture, function and pathology

Por Jonckheere, An I., Smeitink, Jan A. M., Rodenburg, Richard J. T.
Publicado em 2011

Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone

Por Wijnhoven, Hanneke JH, Ennen, Leo, Rodenburg, Richard JT, Dekhuijzen, PN Richard
Publicado em 2006

Cardiac Arrest in Kearns–Sayre Syndrome

Por van Beynum, Ingrid, Morava, Eva, Taher, Marjan, Rodenburg, Richard J., Karteszi, Judit, Toth, Kalman, Szabados, Eszter
Publicado em 2011

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Por Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Publicado no J Inherit Metab Dis (2015)

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

Por Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM
Publicado no EMBO Mol Med (2016)

Leigh Syndrome with Nephropathy and CoQ(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

Por López, Luis Carlos , Schuelke, Markus , Quinzii, Catarina M. , Kanki, Tomotake , Rodenburg, Richard J. T. , Naini, Ali , DiMauro, Salvatore , Hirano, Michio 
Publicado em 2006

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

Por Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan
Publicado no Orphanet J Rare Dis (2016)

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Por Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
Publicado no JIMD Rep (2015)

Three families with ‘de novo’ m.3243A > G mutation

Por de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.
Publicado no BBA Clin (2016)

Inheritance of the m.3243A>G mutation

Por de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado em 2012

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

Por de Laat, Paul, Koene, Saskia, vd Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado no J Inherit Metab Dis (2012)

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Por de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado em 2012

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Por Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Publicado no Eur J Hum Genet (2016)

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity

Por Sente, Tahnee, Van Berendoncks, An M., Jonckheere, An I., Rodenburg, Richard J., Lauwers, Patrick, Van Hoof, Viviane, Wouters, An, Lardon, Filip, Hoymans, Vicky Y., Vrints, Christiaan J.
Publicado no BMC Cardiovasc Disord (2016)

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

Por Ferriero, Rosa, Boutron, Audrey, Brivet, Michele, Kerr, Douglas, Morava, Eva, Rodenburg, Richard J, Bonafé, Luisa, Baumgartner, Matthias R, Anikster, Yair, Braverman, Nancy E, Brunetti-Pierri, Nicola
Publicado em 2014

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia

Por Manjeri, Ganesh R., Rodenburg, Richard J., Blanchet, Lionel, Roelofs, Suzanne, Nijtmans, Leo G., Smeitink, Jan A., Driessen, Jacques J., Koopman, Werner J. H., Willems, Peter H.
Publicado no J Inherit Metab Dis (2015)

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Por Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P
Publicado em 2011

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Por Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Publicado em 2011

Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects

Por Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard, van den Heuvel, Lambert
Publicado em 2010