Resultados de Procura por Autor

1

Biochemical diagnosis of mitochondrial disorders por Richard J. Rodenburg

Publicado 2010

Ligazón do recurso
Revisão

Engadir a favoritos

Gardado en:
2

Mitochondrial complex I-linked disease por Richard J. Rodenburg

Publicado 2016

Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
3

The functional genomics laboratory: functional validation of genetic variants por Richard J. Rodenburg

Publicado 2018

Ligazón do recurso Ligazón do recurso
Revisão

Engadir a favoritos

Gardado en:
4

Mitochondrial ATP synthase: architecture, function and pathology por An I. Jonckheere, Jan Smeitink, Richard J. Rodenburg

Publicado 2011

Ligazón do recurso
Revisão

Engadir a favoritos

Gardado en:
5

Whole exome sequencing of suspected mitochondrial patients in clinical practice por Saskia B. Wortmann, David A. Koolen, Jan Smeitink, Lambert den van Heuvel, Richard J. Rodenburg

Publicado 2015

Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
6

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations por Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano

Publicado 2006

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
7

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure por Rob C. I. Wüst, Heder de Vries, Liesbeth T. Wintjes, Richard J. Rodenburg, Hans W.M. Niessen, Ger J.M. Stienen

Publicado 2016

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
8

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia por Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

Publicado 2018

Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
9

The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis por Richard J. Rodenburg, Anuradha Ganga, Peter L. E. M. van Lent, Leo B. A. Van De Putte, Walther J. Van Venrooij

Publicado 2000

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
10

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation por Paul de Laat, Saskia Koene, Lambert P. W. J. den van Heuvel, Richard J. Rodenburg, Mirian C. H. Janssen, Jan Smeitink

Publicado 2012

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
11

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies por Werner J.H. Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J. Rodenburg, Peter H.G.M. Willems, Jan Smeitink

Publicado 2016

Ligazón do recurso
Revisão

Engadir a favoritos

Gardado en:
12

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 por Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

Publicado 2015

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
13

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease por Felix Distelmaier, Werner J.H. Koopman, Lambertus P. van den Heuvel, Richard J. Rodenburg, Ertan Mayatepek, Peter H.G.M. Willems, Jan Smeitink

Publicado 2008

Ligazón do recurso Ligazón do recurso
Revisão

Engadir a favoritos

Gardado en:
14

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease por Saskia J.G. Hoefs, Francjan J. van Spronsen, Ellen W H Lenssen, Leo Nijtmans, Richard J. Rodenburg, Jan Smeitink, Lambert P. van den Heuvel

Publicado 2010

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
15

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive por Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez‐Caballero, Khalfan S. Al-Senaidi, Niranjan Joshi, Hanka Venselaar, Mariël A. van den Brand, Leo Nijtmans, Richard J. Rodenburg

Publicado 2017

Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
16

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation por Bas F.J. Wanschers, Radek Szklarczyk, Aleksandra Pajak, Mariël A.M. van den Brand, Jolein Gloerich, Richard J. Rodenburg, Robert N. Lightowlers, Leo Nijtmans, Martijn A. Huynen

Publicado 2012

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
17

A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency por Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang, Kin‐Shing Lun, Richard J. Rodenburg, Jan Smeitink, Brian Hon‐Yin Chung, Cheuk‐Wing Fung

Publicado 2019

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
18

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake por Christine Nabuurs, Chi‐un Choe, Andor Veltien, Hermien E. Kan, Luc J. C. van Loon, Richard J. Rodenburg, Jakob Matschke, Bé Wieringa, Graham J. Kemp, Dirk Isbrandt, Arend Heerschap

Publicado 2012

Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
19

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors por G. Herma Renkema, Saskia B. Wortmann, Roel Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben‐Omran, Lambert P. van den Heuvel, Henri Timmers, Jan Smeitink, Richard J. Rodenburg

Publicado 2014

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:
20

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts por A.J.M. Janssen, Frans J.M. Trijbels, R. C. A. Sengers, Jan Smeitink, Lambert P. van den Heuvel, Liesbeth T. Wintjes, Berendien J M Stoltenborg-Hogenkamp, Richard J. Rodenburg

Publicado 2007

Ligazón do recurso Ligazón do recurso
Artigo

Engadir a favoritos

Gardado en:

Resultados de procura - Richard J. Rodenburg

Biochemical diagnosis of mitochondrial disorders por Richard J. Rodenburg

Mitochondrial complex I-linked disease por Richard J. Rodenburg

The functional genomics laboratory: functional validation of genetic variants por Richard J. Rodenburg

Mitochondrial ATP synthase: architecture, function and pathology por An I. Jonckheere, Jan Smeitink, Richard J. Rodenburg

Whole exome sequencing of suspected mitochondrial patients in clinical practice por Saskia B. Wortmann, David A. Koolen, Jan Smeitink, Lambert den van Heuvel, Richard J. Rodenburg

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations por Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure por Rob C. I. Wüst, Heder de Vries, Liesbeth T. Wintjes, Richard J. Rodenburg, Hans W.M. Niessen, Ger J.M. Stienen

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia por Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis por Richard J. Rodenburg, Anuradha Ganga, Peter L. E. M. van Lent, Leo B. A. Van De Putte, Walther J. Van Venrooij

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A &gt; G mutation por Paul de Laat, Saskia Koene, Lambert P. W. J. den van Heuvel, Richard J. Rodenburg, Mirian C. H. Janssen, Jan Smeitink

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies por Werner J.H. Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J. Rodenburg, Peter H.G.M. Willems, Jan Smeitink

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 por Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease por Felix Distelmaier, Werner J.H. Koopman, Lambertus P. van den Heuvel, Richard J. Rodenburg, Ertan Mayatepek, Peter H.G.M. Willems, Jan Smeitink

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease por Saskia J.G. Hoefs, Francjan J. van Spronsen, Ellen W H Lenssen, Leo Nijtmans, Richard J. Rodenburg, Jan Smeitink, Lambert P. van den Heuvel

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation por Bas F.J. Wanschers, Radek Szklarczyk, Aleksandra Pajak, Mariël A.M. van den Brand, Jolein Gloerich, Richard J. Rodenburg, Robert N. Lightowlers, Leo Nijtmans, Martijn A. Huynen

A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency por Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang, Kin‐Shing Lun, Richard J. Rodenburg, Jan Smeitink, Brian Hon‐Yin Chung, Cheuk‐Wing Fung

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts por A.J.M. Janssen, Frans J.M. Trijbels, R. C. A. Sengers, Jan Smeitink, Lambert P. van den Heuvel, Liesbeth T. Wintjes, Berendien J M Stoltenborg-Hogenkamp, Richard J. Rodenburg

Ferramentas de procura:

Materias Relacionadas

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation por Paul de Laat, Saskia Koene, Lambert P. W. J. den van Heuvel, Richard J. Rodenburg, Mirian C. H. Janssen, Jan Smeitink