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In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247
By:
- Conte, Federica;
- Ashikov, Angel;
- Mijdam, Rachel;
- van de Ven, Eline G. P.;
- van Scherpenzeel, Monique;
- Veizaj, Raisa;
- Mahalleh-Yousefi, Seyed P.;
- Post, Merel A.;
- Huijben, Karin;
- Panneman, Daan M.;
- Rodenburg, Richard J. T.;
- Voermans, Nicol C.;
- Garanto, Alejandro;
- Koopman, Werner J. H.;
- Wessels, Hans J. C. T.;
- Noga, Marek J.;
- Lefeber, Dirk J.
Publication type:
Article
C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
Published in:
Nucleic Acids Research, 2012, v. 40, n. 9, p. 4040, doi. 10.1093/nar/gkr1271
By:
- Wanschers, Bas F. J.;
- Szklarczyk, Radek;
- Pajak, Aleksandra;
- van den Brand, Mariël A. M.;
- Gloerich, Jolein;
- Rodenburg, Richard J. T.;
- Lightowlers, Robert N.;
- Nijtmans, Leo G.;
- Huynen, Martijn A.
Publication type:
Article
Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone.
Published in:
International Journal of COPD, 2006, v. 1, n. 1, p. 83, doi. 10.2147/copd.2006.1.1.83
By:
- Wijnhoven, Hanneke J. H.;
- Ennen, Leo;
- Rodenburg, Richard J. T.;
- Dekhuijzen, P. N. Richard
Publication type:
Article
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNA<sup>Ile</sup>.
Published in:
Journal of Neurology, 2007, v. 254, n. 11, p. 1614, doi. 10.1007/s00415-007-0608-6
By:
- Smits, Bart W.;
- Hol, Frans A.;
- van den Heuvel, Lambert P.;
- Drost, Gea;
- Rodenburg, Richard J. T.;
- ter Laak, Henk J.;
- van Engelen, Baziel G. M.
Publication type:
Article
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
By:
- Yu, Mullin Ho-Chung;
- Tsang, Mandy Ho-Yin;
- Lai, Sophie;
- Ho, Matthew Sai-Pong;
- Tse, Donald M. L.;
- Willis, Brooke;
- Kwong, Anna Ka-Yee;
- Chou, Yen-Yin;
- Lin, Shuan-Pei;
- Quinzii, Catarina M;
- Hwu, Wuh-Liang;
- Chien, Yin-Hsiu;
- Kuo, Pao-Lin;
- Chan, Victor Chi-Man;
- Tsoi, Cheung;
- Chong, Shuk-Ching;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Mak, Christopher Chun-Yu;
- Yeung, Kit-San
Publication type:
Article
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80
By:
- Renkema, G Herma;
- Wortmann, Saskia B;
- Smeets, Roel J;
- Venselaar, Hanka;
- Antoine, Marion;
- Visser, Gepke;
- Ben-Omran, Tawfeg;
- van den Heuvel, Lambert P;
- Timmers, Henri J L M;
- Smeitink, Jan A;
- Rodenburg, Richard J T
Publication type:
Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
By:
- Smits, Paulien;
- Saada, Ann;
- Wortmann, Saskia B.;
- Heister, Angelien J.;
- Brink, Maaike;
- Pfundt, Rolph;
- Miller, Chaya;
- Haas, Dorothea;
- Hantschmann, Ralph;
- Rodenburg, Richard J. T.;
- Smeitink, Jan A. M.;
- van den Heuvel, Lambert P.
Publication type:
Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
By:
- Kleefstra, Tjitske;
- Wortmann, Saskia B;
- Rodenburg, Richard J. T.;
- Bongers, Ernie M. H. F.;
- Hadzsiev, Kinga;
- Noordam, Cees;
- Van den Heuvel, Lambert P.;
- Nillesen, Willy M.;
- Hollody, Katalin;
- Gillessen-Kaesbach, Gabrielle;
- Lammens, Martin;
- Smeitink, Jan A. M.;
- Van der Burgt, Ineke;
- Morava, Eva
Publication type:
Article
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 15, doi. 10.1002/jmd2.12220
By:
- Kwong, Anna Ka‐Yee;
- Wong, Sheila Suet‐Na;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Chan, Godfrey Chi Fung;
- Fung, Cheuk‐Wing
Publication type:
Article
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032
By:
- Kwong, Anna K.‐Y.;
- Chiu, Annie T.‐G.;
- Tsang, Mandy H.‐Y.;
- Lun, Kin‐Shing;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Chung, Brian H.‐Y.;
- Fung, Cheuk‐Wing
Publication type:
Article
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296
By:
- Saskia B. Wortmann;
- Richard J. T. Rodenburg;
- An Jonckheere;
- Maaike C. de Vries;
- Marjan Huizing;
- Katrin Heldt;
- Lambert P. van den Heuvel;
- Udo Wendel;
- Leo A. Kluijtmans;
- Udo F. Engelke;
- Ron A. Wevers;
- Jan A. M. Smeitink;
- Eva Morava
Publication type:
Article
High-Throughput Assay to Measure Oxygen Consumption in Digitonin-Permeabilized Cells of Patients with Mitochondrial Disorders.
Published in:
Clinical Chemistry, 2010, v. 56, n. 3, p. 424, doi. 10.1373/clinchem.2009.131441
By:
- Jonckheere, An I.;
- Huigsloot, Merei;
- Janssen, Antoon J. M.;
- Kappen, Antonia J. H.;
- Smeitink, Jan A. M.;
- Rodenburg, Richard J. T.
Publication type:
Article
Exome sequencing in paediatric patients with movement disorders.
Published in:
2021
By:
- Kwong, Anna Ka-Yee;
- Tsang, Mandy Ho-Yin;
- Fung, Jasmine Lee-Fong;
- Mak, Christopher Chun-Yu;
- Chan, Kate Lok-San;
- Rodenburg, Richard J. T.;
- Lek, Monkol;
- Huang, Shushu;
- Pajusalu, Sander;
- Yau, Man-Mut;
- Tsoi, Cheung;
- Fung, Sharon;
- Liu, Kam-Tim;
- Ma, Che-Kwan;
- Wong, Sheila;
- Yau, Eric Kin-Cheong;
- Tai, Shuk-Mui;
- Fung, Eva Lai-Wah;
- Wu, Nick Shun-Ping;
- Tsung, Li-Yan
Publication type:
journal article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
Published in:
Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
By:
- Janssen, Antoon J. M.;
- Schuelke, Markus;
- Smeitink, Jan A. M.;
- Trijbels, Frans J. M.;
- Sengers, Rob C. A.;
- Lucke, Barbara;
- Wintjes, Liesbeth T. M.;
- Morava, Eva;
- van Engelen, Baziel G. M.;
- Smits, Bart W.;
- Hol, Frans A.;
- Siers, Marloes H.;
- Ter Laak, Henk;
- van der Knaap, Marjo S.;
- Van Spronsen, Francjan J.;
- Rodenburg, Richard J. T.;
- van den Heuvel, Lambert P.
Publication type:
Article
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Published in:
2007
By:
- Fernandez-Moreira D;
- Ugalde C;
- Smeets R;
- Rodenburg RJ;
- Lopez-Laso E;
- Ruiz-Falco ML;
- Briones P;
- Martin MA;
- Smeitink JA;
- Arenas J;
- Fernandez-Moreira, Daniel;
- Ugalde, Cristina;
- Smeets, Roel;
- Rodenburg, Richard J T;
- Lopez-Laso, Eduardo;
- Ruiz-Falco, Maria L;
- Briones, Paz;
- Martin, Miguel A;
- Smeitink, Jan A M;
- Arenas, Joaquín
Publication type:
journal article
X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Published in:
Annals of Neurology, 2007, v. 61, n. 1, p. 73
By:
- Daniel Fernandez‐Moreira;
- Cristina Ugalde;
- Roel Smeets;
- Richard J. T. Rodenburg;
- Eduardo Lopez‐Laso;
- Maria L. Ruiz‐Falco;
- Paz Briones;
- Miguel A. Martin;
- Jan A. M. Smeitink;
- Joaquín Arenas
Publication type:
Article
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
Published in:
Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035
By:
- Blanchet, Lionel;
- Smeitink, Jan A. M.;
- van Emst - de Vries, Sjenet E.;
- Vogels, Caroline;
- Pellegrini, Mina;
- Jonckheere, An I.;
- Rodenburg, Richard J. T.;
- Buydens, Lutgarde M. C.;
- Beyrath, Julien;
- Willems, Peter H. G. M.;
- Koopman, Werner J. H.
Publication type:
Article
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Published in:
Human Mutation, 2021, v. 42, n. 2, p. 135, doi. 10.1002/humu.24137
By:
- Wintjes, Liesbeth T. M.;
- Kava, Maina;
- Brandt, Frans A.;
- Brand, Mariël A. M.;
- Lapina, Oksana;
- Bliksrud, Yngve T.;
- Kulseth, Mari A.;
- Amundsen, Silja S.;
- Selberg, Terje R.;
- Ybema‐Antoine, Marion;
- Tutakhel, Omar A. Z.;
- Greed, Lawrence;
- Thorburn, David R.;
- Tangeraas, Trine;
- Balasubramaniam, Shanti;
- Rodenburg, Richard J. T.
Publication type:
Article
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.
Published in:
Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
By:
- Neveling, Kornelia;
- Feenstra, Ilse;
- Gilissen, Christian;
- Hoefsloot, Lies H.;
- Kamsteeg, Erik‐Jan;
- Mensenkamp, Arjen R.;
- Rodenburg, Richard J. T.;
- Yntema, Helger G.;
- Spruijt, Liesbeth;
- Vermeer, Sascha;
- Rinne, Tuula;
- Gassen, Koen L.;
- Bodmer, Danielle;
- Lugtenberg, Dorien;
- Reuver, Rick;
- Buijsman, Wendy;
- Derks, Ronny C.;
- Wieskamp, Nienke;
- Heuvel, Bert;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article

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