Ngā hua rapu kaituhi :: APM

1

Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I mā Hermann Schägger, I.F.M. de Coo, Matthias Bauer, Sabine Hofmann, Catherine Godinot, Ulrich Brandt

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
2

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options mā Rana Yadak, Peter Sillevis Smitt, Marike W. van Gisbergen, Niek P. van Til, I.F.M. de Coo

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

Tiaki ki tētahi rārangi

I tiakina i:
3

Gene–environment interactions in Leber hereditary optic neuropathy mā Matthew A. Kirkman, Patrick Yu‐Wai‐Man, Alex Korsten, Miriam Leonhardt, Konstantin Dimitriadis, I.F.M. de Coo, Thomas Klopstock, Patrick F. Chinnery

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
4

Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients mā Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu‐Wai‐Man, Matthew A. Kirkman, Alex Korsten, I.F.M. de Coo, Patrick F. Chinnery, Thomas Klopstock

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
5

Blood biomarkers for assessment of mitochondrial dysfunction: An expert review mā Wouter Hubens, Antoni Vallbona-Garcia, I.F.M. de Coo, Florence H. J. van Tienen, Casper Webers, Hubert J.M. Smeets, T. G. M. F. Gorgels

I whakaputaina 2021

Whiwhi kuputuhi katoa
Revisão

Tiaki ki tētahi rārangi

I tiakina i:
6

Changes in Globus Pallidus With (Pre)Term Kernicterus mā Paul Govaert, Maarten H. Lequin, Renate Swarte, Simon G. F. Robben, I.F.M. de Coo, Nynke Weisglas‐Kuperus, Yolanda B. de Rijke, M. Sinaasappel, James Barkovich

I whakaputaina 2003

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
7

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux mā Scot C. Leary, Paul A. Cobine, Tamiko Nishimura, Robert M. Verdijk, Ronald R. de Krijger, I.F.M. de Coo, Mark A. Tarnopolsky, Dennis R. Winge, Eric A. Shoubridge

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
8

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography mā B.J.C. van den Bosch, I.F.M. de Coo, H.R. Scholte, Jeroen G. Nijland, R. van den Bogaard, Marjolein Visser, Christine de Die‐Smulders, H. J. M. Smeets

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
9

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects mā Marja W. Wessels, Johanna C. Herkert, Ingrid M.E. Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R. de Krijger, Michelle Michels, I.F.M. de Coo, Yvonne M. Hoedemaekers, Dennis Dooijes

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
10

How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models mā Marike W. van Gisbergen, A.M. Voets, Maud H. W. Starmans, I.F.M. de Coo, Rana Yadak, Roland F. Hoffmann, Paul C. Boutros, Hubert J.M. Smeets, Ludwig J. Dubois, Philippe Lambin

I whakaputaina 2015

Whiwhi kuputuhi katoa
Revisão

Tiaki ki tētahi rārangi

I tiakina i:
11

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors mā Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
12

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases mā Omar Hikmat, K Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal Tallaksen, Eylert Brodtkorb, Elsebet Østergaard, I.F.M. de Coo, Leticia Pías‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darín, Shamima Rahman, Laurence A. Bindoff

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
13

A multicenter study on Leigh syndrome: disease course and predictors of survival mā Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni, Elsebet Østergaard, K Naess, Linda De Meırleır, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A. Bindoff, M. Tulinius, Niklas Darín

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
14

Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes mā Florence H. J. van Tienen, Stephan Praet, Henk M. De Feyter, Nicole M. van den Broek, Patrick Lindsey, Kees Schoonderwoerd, I.F.M. de Coo, Klaas Nicolay, Jeanine J. Prompers, Hubert J.M. Smeets, Luc J. C. van Loon

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
15

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder mā Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip G. Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horváth, Veronika Karcagi, Liesbeth Spruijt, I.F.M. de Coo, Hubert J.M. Smeets, Patrick F. Chinnery

I whakaputaina 2005

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
16

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease mā B.J.C. van den Bosch, Mike Gerards, Wim J. Sluiter, Alexander P.A. Stegmann, Eveline Jongen, Debby M.E.I. Hellebrekers, Renske Oegema, Ellen Lambrichs, Holger Prokisch, Katharina Danhauser, Kees Schoonderwoerd, I.F.M. de Coo, Hubert J.M. Smeets

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
17

The unfolding clinical spectrum of POLG mutations mā Marinus J. Blok, B.J.C. van den Bosch, Eveline Jongen, Alexandra T.M. Hendrickx, C E de Die-Smulders, Jessica E. Hoogendijk, Esther Brusse, Marjolein Visser, Bwee Tien Poll‐The, Jörgen Bierau, I.F.M. de Coo, H J Smeets

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
18

De novo mtDNA point mutations are common and have a low recurrence risk mā Suzanne C.E.H. Sallevelt, Christine de Die‐Smulders, Alexandra T.M. Hendrickx, Debby M.E.I. Hellebrekers, I.F.M. de Coo, Charlotte L. Alston, Charlotte V. Y. Knowles, Robert W. Taylor, Robert McFarland, Hubert J.M. Smeets

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
19

COL4A2 mutation associated with familial porencephaly and small-vessel disease mā Elly Verbeek, Marije Meuwissen, Frans W. Verheijen, Paul Govaert, Daniel J. Licht, Debbie S. Kuo, Cathryn Poulton, Rachel Schot, Maarten H. Lequin, Jeroen Dudink, Dicky Halley, I.F.M. de Coo, Jan C. den Hollander, Renske Oegema, Douglas B. Gould, Grazia M.S. Mancini

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
20

Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect mā Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, I.F.M. de Coo, J. G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M.S. Mancini

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i: