Publications by authors named "Irenaeus F M de Coo"

38Publications

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Authors:
Stefan Groeneweg Ferdy S van Geest Ayhan Abacı Alberto Alcantud Gautem P Ambegaonkar Christine M Armour Priyanka Bakhtiani Diana Barca Enrico S Bertini Ingrid M van Beynum Nicola Brunetti-Pierri Marianna Bugiani Marco Cappa Gerarda Cappuccio Barbara Castellotti Claudia Castiglioni Krishna Chatterjee Irenaeus F M de Coo Régis Coutant Dana Craiu Patricia Crock Christian DeGoede Korcan Demir Alice Dica Paul Dimitri Anna Dolcetta-Capuzzo Marjolein H G Dremmen Rachana Dubey Anina Enderli Jan Fairchild Jonathan Gallichan Belinda George Evelien F Gevers Annette Hackenberg Zita Halász Bianka Heinrich Tony Huynh Anna Kłosowska Marjo S van der Knaap Marieke M van der Knoop Daniel Konrad David A Koolen Heiko Krude Amy Lawson-Yuen Jan Lebl Michaela Linder-Lucht Cláudia F Lorea Charles M Lourenço Roelineke J Lunsing Greta Lyons Jana Malikova Edna E Mancilla Anne McGowan Veronica Mericq Felipe M Lora Carla Moran Katalin E Müller Isabelle Oliver-Petit Laura Paone Praveen G Paul Michel Polak Francesco Porta Fabiano O Poswar Christina Reinauer Klara Rozenkova Tuba S Menevse Peter Simm Anna Simon Yogen Singh Marco Spada Jet van der Spek Milou A M Stals Athanasia Stoupa Gopinath M Subramanian Davide Tonduti Serap Turan Corstiaan A den Uil Joel Vanderniet Adri van der Walt Jean-Louis Wémeau Jolante Wierzba Marie-Claire Y de Wit Nicole I Wolf Michael Wurm Federica Zibordi Amnon Zung Nitash Zwaveling-Soonawala W Edward Visser

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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July 2020

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Authors:
Debby M E I Hellebrekers Emma L Blakely Alexandra T M Hendrickx Steven A Hardy Sila Hopton Gavin Falkous Irenaeus F M de Coo Hubert J M Smeets Nadine M E van der Beek Robert W Taylor

Neuromuscul Disord 2019 09 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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September 2019

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Authors:
Stefan Groeneweg Robin P Peeters Carla Moran Athanasia Stoupa Françoise Auriol Davide Tonduti Alice Dica Laura Paone Klara Rozenkova Jana Malikova Adri van der Walt Irenaeus F M de Coo Anne McGowan Greta Lyons Femke K Aarsen Diana Barca Ingrid M van Beynum Marieke M van der Knoop Jurgen Jansen Martien Manshande Roelineke J Lunsing Stan Nowak Corstiaan A den Uil M Carola Zillikens Frank E Visser Paul Vrijmoeth Marie Claire Y de Wit Nicole I Wolf Angelique Zandstra Gautam Ambegaonkar Yogen Singh Yolanda B de Rijke Marco Medici Enrico S Bertini Sylvia Depoorter Jan Lebl Marco Cappa Linda De Meirleir Heiko Krude Dana Craiu Federica Zibordi Isabelle Oliver Petit Michel Polak Krishna Chatterjee Theo J Visser W Edward Visser

Lancet Diabetes Endocrinol 2019 09 31;7(9):695-706. Epub 2019 Jul 31.

Academic Center for Thyroid Diseases, Erasmus Medical Centre, Rotterdam, Netherlands. Electronic address:

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September 2019

Leigh syndrome caused by mutations in is associated with a better prognosis.

Authors:
Hannah Hayhurst Irenaeus F M de Coo Dorota Piekutowska-Abramczuk Charlotte L Alston Sunil Sharma Kyle Thompson Rocio Rius Langping He Sila Hopton Rafal Ploski Elzbieta Ciara Nicole J Lake Alison G Compton Martin B Delatycki Aad Verrips Penelope E Bonnen Simon A Jones Andrew A Morris David Shakespeare John Christodoulou Dorota Wesol-Kucharska Dariusz Rokicki Hubert J M Smeets Ewa Pronicka David R Thorburn Grainne S Gorman Robert McFarland Robert W Taylor Yi Shiau Ng

Ann Clin Transl Neurol 2019 03 17;6(3):515-524. Epub 2019 Feb 17.

Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.

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March 2019

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Authors:
Tom E J Theunissen Minh Nguyen Rick Kamps Alexandra T Hendrickx Suzanne C E H Sallevelt Ralph W H Gottschalk Chantal M Calis Alphons P M Stassen Bart de Koning Elvira N M Mulder-Den Hartog Kees Schoonderwoerd Sabine A Fuchs Yvonne Hilhorst-Hofstee Marianne de Visser Jo Vanoevelen Radek Szklarczyk Mike Gerards Irenaeus F M de Coo Debby M E I Hellebrekers Hubert J M Smeets

Front Genet 2018 12;9:400. Epub 2018 Oct 12.

Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.

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October 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Authors:
Birgit M Repp Elisa Mastantuono Charlotte L Alston Manuel Schiff Tobias B Haack Agnes Rötig Anna Ardissone Anne Lombès Claudia B Catarino Daria Diodato Gudrun Schottmann Joanna Poulton Alberto Burlina An Jonckheere Arnold Munnich Boris Rolinski Daniele Ghezzi Dariusz Rokicki Diana Wellesley Diego Martinelli Ding Wenhong Eleonora Lamantea Elsebet Ostergaard Ewa Pronicka Germaine Pierre Hubert J M Smeets Ilka Wittig Ingrid Scurr Irenaeus F M de Coo Isabella Moroni Joél Smet Johannes A Mayr Lifang Dai Linda de Meirleir Markus Schuelke Massimo Zeviani Raphael J Morscher Robert McFarland Sara Seneca Thomas Klopstock Thomas Meitinger Thomas Wieland Tim M Strom Ulrike Herberg Uwe Ahting Wolfgang Sperl Marie-Cecile Nassogne Han Ling Fang Fang Peter Freisinger Rudy Van Coster Valentina Strecker Robert W Taylor Johannes Häberle Jerry Vockley Holger Prokisch Saskia Wortmann

Orphanet J Rare Dis 2018 07 19;13(1):120. Epub 2018 Jul 19.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

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July 2018

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.

Authors:
Roy A M Haast Dimo Ivanov Rutger J T IJsselstein Suzanne C E H Sallevelt Jacobus F A Jansen Hubert J M Smeets Irenaeus F M de Coo Elia Formisano Kâmil Uludağ

Neuroimage Clin 2018 31;18:231-244. Epub 2018 Jan 31.

Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200MD Maastricht, Netherlands. Electronic address:

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February 2019

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

Authors:
Rana Yadak Raquel Cabrera-Pérez Javier Torres-Torronteras Marianna Bugiani Joost C Haeck Marshall W Huston Elly Bogaerts Steffi Goffart Edwin H Jacobs Merel Stok Lorena Leonardelli Luca Biasco Robert M Verdijk Monique R Bernsen George Ruijter Ramon Martí Gerard Wagemaker Niek P van Til Irenaeus F M de Coo

Mol Ther Methods Clin Dev 2018 Mar 8;8:152-165. Epub 2018 Jan 8.

Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands.

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March 2018

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Authors:
Rick Kamps Radek Szklarczyk Tom E Theunissen Debby M E I Hellebrekers Suzanne C E H Sallevelt Iris B Boesten Bart de Koning Bianca J van den Bosch Gajja S Salomons Marisa Simas-Mendes Rob Verdijk Kees Schoonderwoerd Irenaeus F M de Coo Jo M Vanoevelen Hubert J M Smeets

Eur J Hum Genet 2018 04 13;26(4):537-551. Epub 2018 Feb 13.

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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April 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Authors:
Kalliopi Sofou Irenaeus F M de Coo Elsebet Ostergaard Pirjo Isohanni Karin Naess Linda De Meirleir Charalampos Tzoulis Johanna Uusimaa Tuula Lönnqvist Laurence Albert Bindoff Már Tulinius Niklas Darin

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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January 2018

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Authors:
Tom E J Theunissen Mike Gerards Debby M E I Hellebrekers Florence H van Tienen Rick Kamps Suzanne C E H Sallevelt Elvira N M M-D Hartog Hans R Scholte Robert M Verdijk Kees Schoonderwoerd Irenaeus F M de Coo Radek Szklarczyk Hubert J M Smeets

Front Mol Neurosci 2017 18;10:336. Epub 2017 Oct 18.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.

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October 2017

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Authors:
Renske Oegema David Baillat Rachel Schot Leontine M van Unen Alice Brooks Sima Kheradmand Kia A Jeannette M Hoogeboom Zheng Xia Wei Li Matteo Cesaroni Maarten H Lequin Marjon van Slegtenhorst William B Dobyns Irenaeus F M de Coo Debbie van den Berg Frans W Verheijen Andreas Kremer Peter J van der Spek Daphne Heijsman Eric J Wagner Maarten Fornerod Grazia M S Mancini

PLoS Genet 2017 Aug 1;13(8):e1006923. Epub 2017 Aug 1.

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August 2017

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

Authors:
Peter van Vliet Annelies E Berden Mojca K M van Schie Jaap A Bakker Christian Heringhaus Irenaeus F M de Coo Mirjam Langeveld Marielle A Schroijen M Sesmu Arbous

JIMD Rep 2018 7;38:101-105. Epub 2017 Jul 7.

Department of Intensive Care Medicine, Leiden University Medical Center, Leiden, The Netherlands.

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July 2017

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Authors:
Renske Oegema David Baillat Rachel Schot Leontine M van Unen Alice Brooks Sima Kheradmand Kia A Jeannette M Hoogeboom Zheng Xia Wei Li Matteo Cesaroni Maarten H Lequin Marjon van Slegtenhorst William B Dobyns Irenaeus F M de Coo Frans W Verheijen Andreas Kremer Peter J van der Spek Daphne Heijsman Eric J Wagner Maarten Fornerod Grazia M S Mancini

PLoS Genet 2017 May 25;13(5):e1006809. Epub 2017 May 25.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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May 2017

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Authors:
Rana Yadak Peter Sillevis Smitt Marike W van Gisbergen Niek P van Til Irenaeus F M de Coo

Front Cell Neurosci 2017 15;11:31. Epub 2017 Feb 15.

Department of Neurology, Erasmus University Medical Center Rotterdam, Netherlands.

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February 2017

Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.

Authors:
Miranda Nabben Joep P J Schmitz Jolita Ciapaite Carlijn M P le Clercq Natal A van Riel Harm R Haak Klaas Nicolay Irenaeus F M de Coo Hubert Smeets Stephan F Praet Luc J van Loon Jeanine J Prompers

Am J Physiol Regul Integr Comp Physiol 2017 05 8;312(5):R689-R701. Epub 2017 Feb 8.

Biomedical NMR, Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, The Netherlands;

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May 2017

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Authors:
Tom E J Theunissen Suzanne C E H Sallevelt Debby M E I Hellebrekers Bart de Koning Alexandra T M Hendrickx Bianca J C van den Bosch Rick Kamps Kees Schoonderwoerd Radek Szklarczyk Elvira N M Mulder-Den Hartog Irenaeus F M de Coo Hubert J M Smeets

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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March 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Authors:
Tom E J Theunissen Radek Szklarczyk Mike Gerards Debby M E I Hellebrekers Elvira N M Mulder-Den Hartog Jo Vanoevelen Rick Kamps Bart de Koning S Lane Rutledge Thomas Schmitt-Mechelke Carola G M van Berkel Marjo S van der Knaap Irenaeus F M de Coo Hubert J M Smeets

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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November 2016

De novo mtDNA point mutations are common and have a low recurrence risk.

Authors:
Suzanne C E H Sallevelt Christine E M de Die-Smulders Alexandra T M Hendrickx Debby M E I Hellebrekers Irenaeus F M de Coo Charlotte L Alston Charlotte Knowles Robert W Taylor Robert McFarland Hubert J M Smeets

J Med Genet 2017 02 22;54(2):73-83. Epub 2016 Jul 22.

Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.

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February 2017

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Authors:
Gerben J Schaaf Tom J M van Gestel Esther Brusse Robert M Verdijk Irenaeus F M de Coo Pieter A van Doorn Ans T van der Ploeg W W M Pim Pijnappel

Acta Neuropathol Commun 2015 Oct 28;3:65. Epub 2015 Oct 28.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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October 2015

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Authors:
Hubert J M Smeets Suzanne C E H Sallevelt Jos C F M Dreesen Christine E M de Die-Smulders Irenaeus F M de Coo

Ann N Y Acad Sci 2015 Sep 27;1350:29-36. Epub 2015 Aug 27.

Department of Neurology, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.

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September 2015

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Authors:
Joerg P Halter W Michael M Schüpbach Hanna Mandel Carlo Casali Kim Orchard Matthew Collin David Valcarcel Attilio Rovelli Massimiliano Filosto Maria T Dotti Giuseppe Marotta Guillem Pintos Pere Barba Anna Accarino Christelle Ferra Isabel Illa Yves Beguin Jaap A Bakker Jaap J Boelens Irenaeus F M de Coo Keith Fay Carolyn M Sue David Nachbaur Heinz Zoller Claudia Sobreira Belinda Pinto Simoes Simon R Hammans David Savage Ramon Martí Patrick F Chinnery Ronit Elhasid Alois Gratwohl Michio Hirano

Brain 2015 Oct 10;138(Pt 10):2847-58. Epub 2015 Aug 10.

29 Department of Neurology, Columbia University Medical Centre, New York, NY, USA.

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October 2015

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.

Authors:
Minh Nguyen Iris Boesten Debby M E I Hellebrekers Jo Vanoevelen Rick Kamps Bart de Koning Irenaeus F M de Coo Mike Gerards Hubert J M Smeets

Eur J Hum Genet 2016 Apr 22;24(4):619-22. Epub 2015 Jul 22.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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April 2016

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Authors:
Kalliopi Sofou Irenaeus F M De Coo Pirjo Isohanni Elsebet Ostergaard Karin Naess Linda De Meirleir Charalampos Tzoulis Johanna Uusimaa Isabell B De Angst Tuula Lönnqvist Helena Pihko Katariina Mankinen Laurence A Bindoff Már Tulinius Niklas Darin

Orphanet J Rare Dis 2014 Apr 15;9:52. Epub 2014 Apr 15.

Department of Paediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, SE-416 85 Gothenburg, Sweden.

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April 2014

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Authors:
Renske Oegema Jessie M Hulst Sabine D M Theuns-Valks Leontine M A van Unen Rachel Schot Grazia M S Mancini Marguerite E I Schipper Marie C Y de Wit Barbara J Sibbles Irenaeus F M de Coo Veerle Nanninga Robert M W Hofstra Dicky J J Halley Alice S Brooks

Am J Med Genet A 2013 Sep 19;161A(9):2376-84. Epub 2013 Jul 19.

Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

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September 2013

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Authors:
Ryan J Taft Adeline Vanderver Richard J Leventer Stephen A Damiani Cas Simons Sean M Grimmond David Miller Johanna Schmidt Paul J Lockhart Kate Pope Kelin Ru Joanna Crawford Tena Rosser Irenaeus F M de Coo Monica Juneja Ishwar C Verma Prab Prabhakar Susan Blaser Julian Raiman Petra J W Pouwels Marianna R Bevova Truus E M Abbink Marjo S van der Knaap Nicole I Wolf

Am J Hum Genet 2013 May;92(5):774-80

Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland 4072, Australia.

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May 2013

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Authors:
Xenia L Stalpers Aad Verrips Bwee Tien Poll-The Jan-Maarten Cobben Irina N Snoeck Irenaeus F M de Coo Alice Brooks Saskia Bulk Rob Gooskens Annemarie Fock Corien Verschuuren-Bemelmans Richard J Sinke Marianne de Visser Henny H Lemmink

Neuromuscul Disord 2013 Jun 6;23(6):461-8. Epub 2013 Apr 6.

Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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June 2013

PRRT2 mutation causes benign familial infantile convulsions.

Authors:
Boukje de Vries Petra M C Callenbach Jessica T Kamphorst Claudia M Weller Stephany C Koelewijn Robert ten Houten Irenaeus F M de Coo Oebo F Brouwer Arn M J M van den Maagdenberg

Neurology 2012 Nov 17;79(21):2154-5. Epub 2012 Oct 17.

Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.

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November 2012

RTTN mutations link primary cilia function to organization of the human cerebral cortex.

Authors:
Sima Kheradmand Kia Elly Verbeek Erik Engelen Rachel Schot Raymond A Poot Irenaeus F M de Coo Maarten H Lequin Cathryn J Poulton Farzin Pourfarzad Frank G Grosveld António Brehm Marie Claire Y de Wit Renske Oegema William B Dobyns Frans W Verheijen Grazia M S Mancini

Am J Hum Genet 2012 Sep 30;91(3):533-40. Epub 2012 Aug 30.

Department of Clinical Genetics, Erasmus University Medical Center (Erasmus MC), P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

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September 2012

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

Authors:
Marie-Claire Y de Wit Jojanneke de Rijk-van Andel Dicky J Halley Pino J Poddighe Willem Frans M Arts Irenaeus F M de Coo Grazia M S Mancini

Dev Med Child Neurol 2011 May 17;53(5):417-21. Epub 2011 Mar 17.

Department of Neurology and Paediatric Neurology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.

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May 2011

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

Authors:
Mike Gerards Bianca J C van den Bosch Katharina Danhauser Valérie Serre Michel van Weeghel Ronald J A Wanders Gerry A F Nicolaes Wim Sluiter Kees Schoonderwoerd Hans R Scholte Holger Prokisch Agnès Rötig Irenaeus F M de Coo Hubert J M Smeets

Brain 2011 Jan 7;134(Pt 1):210-9. Epub 2010 Oct 7.

Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, 6200 MD Maastricht, The Netherlands.

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January 2011

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

Authors:
Marie Claire Y de Wit Irenaeus F M de Coo Maarten H Lequin Dicky J J Halley Jolien W Roos-Hesselink Grazia M S Mancini

Clin Res Cardiol 2011 Jan 22;100(1):45-50. Epub 2010 Aug 22.

Department of Neurology, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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January 2011

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Authors:
Annemieke J M H Verkerk Rachel Schot Laura van Waterschoot Hannie Douben Pino J Poddighe Maarten H Lequin Linda S de Vries Paulien Terhal Johanne M D Hahnemann Irenaeus F M de Coo Marie-Claire Y de Wit Leontien S Wafelman Livia Garavelli William B Dobyns Peter J Van der Spek Annelies de Klein Grazia M S Mancini

Am J Med Genet A 2010 Jun;152A(6):1488-97

Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands.

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June 2010

Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

Authors:
Marie Claire Y de Wit Irenaeus F M de Coo Rachel Schot A Jeannette M Hoogeboom Maarten H Lequin Annemieke J M H Verkerk Grazia M S Mancini

Am J Med Genet A 2010 Apr;152A(4):954-9

Department of Neurology, Erasmus MC Rotterdam, The Netherlands.

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April 2010

KBG syndrome associated with periventricular nodular heterotopia.

Authors:
Renske Oegema Rachel Schot Marie Claire Y de Wit Maarten H Lequin Rianne Oostenbrink Irenaeus F M de Coo Grazia M S Mancini

Clin Dysmorphol 2010 Jul;19(3):164-5

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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July 2010

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

Authors:
Alex Korsten Irenaeus F M de Coo Liesbeth Spruijt L Elly A de Wit Hubert J M Smeets Wim Sluiter

Biochim Biophys Acta 2010 Feb 15;1797(2):197-203. Epub 2009 Oct 15.

Department of Neurology, Erasmus MC Rotterdam, The Netherlands.

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February 2010

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Authors:
Annemieke J M H Verkerk Rachel Schot Belinda Dumee Karlijn Schellekens Sigrid Swagemakers Aida M Bertoli-Avella Maarten H Lequin Jeroen Dudink Paul Govaert A L van Zwol Jennifer Hirst Marja W Wessels Coriene Catsman-Berrevoets Frans W Verheijen Esther de Graaff Irenaeus F M de Coo Johan M Kros Rob Willemsen Patrick J Willems Peter J van der Spek Grazia M S Mancini

Am J Hum Genet 2009 Jul 25;85(1):40-52. Epub 2009 Jun 25.

Department of Bioinformatics, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands.

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July 2009

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

Authors:
Rudy G E van Eijsden Mike Gerards Lars M T Eijssen Alexandra T M Hendrickx Roselie J E Jongbloed John H J Wokke Rogier Q Hintzen Maria E Rubio-Gozalbo Irenaeus F M De Coo Egill Briem Valeria Tiranti Hubert J M Smeets

Genet Med 2006 Oct;8(10):620-7

Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands.

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October 2006