Van Coster Rudy: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation

Mado Vandewoestyne, Björn Heindryckx, Stefanie De Gheselle, Trees Lepez, Jitesh Neupane, Jan Gerris, Rudy Van Coster, Petra De Sutter, Dieter Deforce

Journal:

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

2

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

van der Westhuizen, Francois H., Smet, Joél, Levanets, Oksana, Meissner-Roloff, Madelein, Louw, Roan, Van Coster, Rudy, Smuts, Izelle

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

3

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V., Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 875 KB

english, 2018

4

Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation

Mado Vandewoestyne, Björn Heindryckx, Trees Lepez, Rudy Van Coster, Jan Gerris, Petra De Sutter, Dieter Deforce

Journal:

Year:

2011

Language:

english

File:

PDF, 178 KB

english, 2011

5

Multiple sclerosis in Belgian children: A multicentre retrospective study

Verhelst, Helene, De Waele, Liesbeth, Deconinck, Nicolas, Ceulemans, Berten, Willekens, Barbara, Van Coster, Rudy

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 651 KB

english, 2016

6

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christoph

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

7

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 826 KB

english, 2002

8

Spastic paraplegia with crystalline retinopathy: A recognisable phenotype?

Verloo, Patrick, Delbeke, Patricia, Van Coster, Rudy

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

9

EXPRESS: Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Subjects with Unexplained Abnormal Fatigue: A Preliminary Study

Celie, Bert, Mariman, An, Boone, Jan, Delesie, Liesbeth, Tobback, Els, Seneca, Sara, De Paepe, Boel, Vogelaers, Dirk, Van Coster, Rudy, Bourgois, Jan Gustaaf

Journal:

Applied Spectroscopy

Year:

2018

Language:

english

File:

PDF, 439 KB

english, 2018

10

Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients

De Samber, Björn, Vanden Berghe, Tom, Meul, Eline, Bauters, Stephen, Seyrich, Martin, Smet, Joél, De Paepe, Boel, da Silva, Julio Cesar, Bohic, Sylvain, Cloetens, Peter, Van Coster, Rudy, Vandenabeele

Journal:

Journal of Synchrotron Radiation

Year:

2020

File:

PDF, 2.78 MB

2020

11

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

Heike Kotarsky, Riitta Karikoski, Matthias Mörgelin, Sanna Marjavaara, Petra Bergman, De-Liang Zhang, Joél Smet, Rudy van Coster, Vineta Fellman

Journal:

Year:

2010

Language:

english

File:

PDF, 3.70 MB

english, 2010

12

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

Debray, François-Guillaume, Seneca, Sara, Gonce, Michel, Vancampenhaut, Kim, Bianchi, Elettra, Boemer, François, Weekers, Laurent, Smet, Joél, Van Coster, Rudy

Journal:

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

13

Proteomic analysis in giant axonal neuropathy: New insights into disease mechanisms

Silke Mussche, Boel De Paepe, Joél Smet, Katrien Devreese, Willy Lissens, Vedrana Milic Rasic, Matthew Murnane, Bart Devreese, Rudy Van Coster

Journal:

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

14

Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children: A study of 17 cases

Selim, Laila, Mehaney, Dina, Van Coster, Rudy, Hadi, Sawsan Abdel, Gamal, Iman, Youssry, Mariane, El Badawya, Amira, Vanlander, Arnaud, Smét, Joel, De Latter, Elien, Vandemeulebroecke, Katrien, Abdo,

Journal:

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

15

Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich’s ataxia fibroblasts

De Samber, Björn, Meul, Eline, Laforce, Brecht, De Paepe, Boel, Smet, Joél, De Bruyne, Michiel, De Rycke, Riet, Bohic, Sylvain, Cloetens, Peter, Van Coster, Rudy, Vandenabeele, Peter, Vanden Berghe, T

Journal:

Year:

2018

Language:

english

File:

PDF, 27.24 MB

english, 2018

16

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 496 KB

english, 2001

17

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Wray, Carter D., Friederich, Marisa W., du Sart, Desiree, Pantaleo, Sarah, Smet, Joél, Kucera, Cathlin, Fenton, Laura, Scharer, Gunter, Van Coster, Rudy, Van Hove, Johan L.K.

Journal:

Year:

2013

Language:

english

File:

PDF, 680 KB

english, 2013

18

Complex III staining in blue native polyacrylamide gels

Joél Smet, Boel De Paepe, Sara Seneca, Willy Lissens, Heike Kotarsky, Linda De Meirleir, Vineta Fellman, Rudy Van Coster

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 333 KB

english, 2011

19

Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis

Heindryckx, Björn, Neupane, Jitesh, Vandewoestyne, Mado, Christodoulou, Christodoulos, Jackers, Yens, Gerris, Jan, Van den Abbeel, Etienne, Van Coster, Rudy, Deforce, Dieter, De Sutter, Petra

Journal:

Year:

2014

Language:

english

File:

PDF, 419 KB

english, 2014

20

Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

De Paepe, Boel, Vandemeulebroecke, Katrien, Smet, Joél, Vanlander, Arnaud, Seneca, Sara, Lissens, Willy, Van Hove, Johan LK, Deschepper, Ellen, Briones, Paz, Van Coster, Rudy

Journal:

Phytotherapy Research

Year:

2014

Language:

english

File:

PDF, 149 KB

english, 2014

21

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

Vanessa A. Morais, Patrik Verstreken, Anne Roethig, Joél Smet, An Snellinx, Mieke Vanbrabant, Dominik Haddad, Christian Frezza, Wim Mandemakers, Daniela Vogt-Weisenhorn, Rudy Van Coster, Wolfgang Wurs

Journal:

EMBO Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 822 KB

english, 2009

22

Meningeal carcinomatosis in a child with Ewing sarcoma

Catharina Dhooge, Rudy Van Coster, Annick de Jaeger, Els Vandecruys, Geneviève Laureys, Bart Vanzieleghem

Journal:

Pediatric Blood & Cancer

Year:

2002

Language:

english

File:

PDF, 112 KB

english, 2002

23

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency

Ann Meulemans, Willy Lissens, Rudy Van Coster, Linda De Meirleir, Joél Smet, Marie-Cécile Nassogne, Inge Liebaers, Sara Seneca

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 107 KB

english, 2004

24

Arg-Cys Substitution at Codon 1246 of the Human Myosin Va Gene is not Associated with Griscelli Syndrome

Lambert, Jo, Naeyaert, Jean Marie, De Paepe, Anne, Van Coster, Rudy, Ferster, Alina, Song, Micheline, Messiaen, Ludwine

Journal:

The Journal of Investigative Dermatology

Year:

2000

Language:

english

File:

PDF, 122 KB

english, 2000

25

Event rate and event-related potentials in ADHD

Roeljan Wiersema, Jaap Van Der Meere, Herbert Roeyers, Rudy Van, Coster, Dieter Baeyens

Journal:

Journal of Child Psychology and Psychiatry

Year:

2006

Language:

english

File:

PDF, 114 KB

english, 2006

26

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis

Ann Meulemans, Sara Seneca, Joel Smet, Boel De Paepe, Willy Lissens, Rudy Van Coster, Anne Debeer, Linda De Meirleir, Jaak Jaeken

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 350 KB

english, 2007

27

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Emmanuel Scalais, Baudouin Francois, Patrick Schlesser, Rene Stevens, Christian Nuttin, Jean-Jacques Martin, Rudy Van Coster, Sara Seneca, Frank Roels, Gert Van Goethem, Ann Löfgren, Linda De Meirleir

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 592 KB

english, 2012

28

Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation

Peeters, Annelies, Shinde, Abhijit Babaji, Dirkx, Ruud, Smet, Joél, De Bock, Katrien, Espeel, Marc, Vanhorebeek, Ilse, Vanlander, Arnaud, Van Coster, Rudy, Carmeliet, Peter, Fransen, Marc, Van Veldhov

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2015

Language:

english

File:

PDF, 3.04 MB

english, 2015

29

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

Linda De Meirleir, Sara Seneca, Eliane Damis, Brigitte Sepulchre, Anne Hoorens, Erik Gerlo, M. Teres García Silva, Elena Martín Hernandez, Willy Lissens, Rudy Van Coster

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 219 KB

english, 2003

30

Hippocampal atrophy and developmental regression as first sign of linear scleroderma “en coup de sabre”

Helene E. Verhelst, Hilde Beele, Rik Joos, Benedicte Vanneuville, Rudy N. Van Coster

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 684 KB

english, 2008

31

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

32

No evidence for involvement ofSDHDin neuroblastoma pathogenesis

Katleen De Preter, Jo Vandesompele, Jasmien Hoebeeck, Caroline Vandenbroecke, Jöel Smet, Annick Nuyts, Geneviève Laureys, Valérie Combaret, Nadine Van Roy, Frank Roels, Rudy Van Coster, Marleen Praet,

Journal:

Year:

2004

Language:

english

File:

PDF, 1.10 MB

english, 2004

33

Lambert–Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Verbeek, Sabine, Vanakker, Olivier, Mercelis, Rudy, Lipka, A.F., Haerynck, Filomeen, Dullaers, Melissa, Verloo, Patrick, Van Coster, Rudy, Verhelst, Helene

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 669 KB

english, 2014

34

Assessment of nuclear transfer techniques to prevent the transmission of heritable mitochondrial disorders without compromising embryonic development competence in mice

Neupane, Jitesh, Vandewoestyne, Mado, Ghimire, Sabitri, Lu, Yuechao, Qian, Chen, Van Coster, Rudy, Gerris, Jan, Deroo, Tom, Deforce, Dieter, De Sutter, Petra, Heindryckx, Björn

Journal:

Year:

2014

Language:

english

File:

PDF, 1.18 MB

english, 2014

35

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Brecht, Guillemyn, Sarah, De Jaegere, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere,

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 2.48 MB

2019

36

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

Rudy Van Coster, S. Seneca, J. Smet, R. Van Hecke, E. Gerlo, B. Devreese, J. Van Beeumen, J.G. Leroy, L. De Meirleir, W. Lissens

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 225 KB

english, 2003

37

A family with X-linked dominant Charcot–Marie–Tooth caused by a connexin32 mutation

Helene E Verhelst, Ann Lofgren, Rudy N Van Coster

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

38

X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation

Marc D’Hooghe, Dominik Selleslag, Geert Mortier, Rudy Van Coster, Pieter Vermeersch, Johan Billiet, Soumeya Bekri

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

39

Expanding the Spectrum of MERS Type 2 Lesions, a Particular Form of Encephalitis

Notebaert, Anneleen, Willems, Jef, Coucke, Line, Van Coster, Rudy, Verhelst, Helene

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 311 KB

english, 2013

40

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

Marjo S. Van Der Knaap, Patrick Van Der Voorn, Frederik Barkhof, Rudy Van Coster, Ingeborg Krägeloh-Mann, Annette Feigenbaum, Susan Blaser, Johan S. H. Vles, Peter Rieckmann, Petra J. W. Pouwels

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 1.25 MB

english, 2003

41

Palatal Insufficiency as Isolated Sign of GQ1b Antibody Syndrome

Helene Verhelst, Michaela Maes, Karel Deblaere, Rudy Van Coster

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 268 KB

english, 2011

42

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-G

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 2.31 MB

english, 2014

43

Fatal outcome of pyruvate loading test in child with restrictive cardiomyopathy

Matthys, Dirk, Van Coster, Rudy, Verhaaren, Henri

Journal:

Year:

1991

Language:

english

File:

PDF, 342 KB

english, 1991

44

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

Dewulf, Joseph P., Barrea, Catherine, Vincent, Marie-Françoise, De Laet, Corinne, Van Coster, Rudy, Seneca, Sara, Marie, Sandrine, Nassogne, Marie-Cécile

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 575 KB

english, 2016

45

A Novel Mitochondrial Transfer RNAAsn Mutation Causing Multiorgan Failure

Meulemans, Ann, Seneca, Sara, Lagae, Lieven, Lissens, Willy, De Paepe, Boel, Smet, Joél, Van Coster, Rudy, De Meirleir, Linda

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 184 KB

english, 2006

46

Perisylvian polymicrogyria, infantile spasms and arthrogryposis: The severe end of the spectrum of congenital bilateral perisylvian polymicrogyria

Anja De Coene, Rudy Van Coster, Helene Verhelst

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

47

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Seneca, Sara, Vancampenhout, Kim, Van Coster, Rudy, Smet, Joél, Lissens, Willy, Vanlander, Arnaud, De Paepe, Boel, Jonckheere, An, Stouffs, Katrien, De Meirleir, Linda

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.34 MB

english, 2015

48

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

Scalais, Emmanuel, Chafai, Ronit, Van Coster, Rudy, Bindl, Lutz, Nuttin, Christian, Panagiotaraki, Chryssa, Seneca, Sara, Lissens, Willy, Ribes, Antonia, Geers, Caroline, Smet, Joel, De Meirleir, Lind

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 826 KB

english, 2013

49

Appointments

Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-G

Journal:

Year:

1942

Language:

english

File:

PDF, 195 KB

english, 1942

50

Restoration of Cytoskeleton Homeostasis After Gigaxonin Gene Transfer for Giant Axonal Neuropathy

Mussche, Silke, Devreese, Bart, Nagabhushan Kalburgi, Sahana, Bachaboina, Lavanya, Fox, Jonathan C., Shih, Hung-Jui, Van Coster, Rudy, Samulski, R. Jude, Gray, Steven J.

Journal:

Human Gene Therapy

Year:

2013

Language:

english

File:

PDF, 545 KB

english, 2013

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски