Publications by authors named "Erik Jan Kamsteeg"

99Publications

Anaesthesia and neuromuscular disorders: what a neurologist needs to know.

Pract Neurol 2020 Oct 27. Epub 2020 Oct 27.

Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, Netherlands

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http://dx.doi.org/10.1136/practneurol-2020-002633DOI Listing
October 2020

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.

J Inherit Metab Dis 2020 Oct 9. Epub 2020 Oct 9.

Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12321DOI Listing
October 2020

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Pediatr Neurol 2020 Dec 28;113:26-32. Epub 2020 Jul 28.

Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.07.014DOI Listing
December 2020

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Parkinsonism Relat Disord 2020 Sep 12;80:98-101. Epub 2020 Sep 12.

Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.016DOI Listing
September 2020

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Parkinsonism Relat Disord 2020 08 29;77:70-75. Epub 2020 Jun 29.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.027DOI Listing
August 2020

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

Parkinsonism Relat Disord 2020 05 1;74:12-15. Epub 2020 Apr 1.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.019DOI Listing
May 2020

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.

Tremor Other Hyperkinet Mov (N Y) 2019 10;10. Epub 2020 Jan 10.

Department of Human Genetics, Radboud University Medical Center, GA Nijmegen, NL.

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http://dx.doi.org/10.7916/tohm.v0.742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982423PMC
January 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

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

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 11 10;105(5):907-920. Epub 2019 Oct 10.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 07;142(7):e31

Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Eur J Paediatr Neurol 2019 May 27;23(3):404-409. Epub 2019 Feb 27.

Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht University Medical Centre, Heeze, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.012DOI Listing
May 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet 2019 Dec 17;62(12):103605. Epub 2018 Dec 17.

Department of Medicine (Neurology), University of Alberta, Edmonton, Canada; Departments of Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183041
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http://dx.doi.org/10.1016/j.ejmg.2018.12.010DOI Listing
December 2019

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Parkinsonism Relat Disord 2019 05 29;62:215-220. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.11.027DOI Listing
May 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Mol Genet Metab Rep 2018 Dec 13;17:19-21. Epub 2018 Sep 13.

Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878PMC
December 2018

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

Eur J Paediatr Neurol 2018 Nov 15;22(6):1110-1117. Epub 2018 Aug 15.

Department of Pediatric Neurology & Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2018.07.012DOI Listing
November 2018

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Eur J Paediatr Neurol 2018 Sep 25;22(5):866-869. Epub 2018 Jun 25.

Department of Neurology (Paediatric Neurology) and Amalia Children's Hospital, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183020
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http://dx.doi.org/10.1016/j.ejpn.2018.06.005DOI Listing
September 2018

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

Am J Med Genet A 2018 07 7;176(7):1602-1609. Epub 2018 May 7.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38723DOI Listing
July 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca sensitivity.

Eur J Hum Genet 2018 02 12;26(2):220-229. Epub 2018 Jan 12.

Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei Province, P. R. China.

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http://dx.doi.org/10.1038/s41431-017-0073-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839055PMC
February 2018

Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Brain 2017 12;140(12):e73

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awx280DOI Listing
December 2017

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

J Neuromuscul Dis 2017;4(4):349-355

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JND-170238DOI Listing
July 2019

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 2017

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

Dev Med Child Neurol 2016 Dec 9;58(12):1317-1322. Epub 2016 Sep 9.

Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/dmcn.13250DOI Listing
December 2016

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.

From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075972PMC
October 2016

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Cerebellum 2017 02;16(1):268-271

Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s12311-016-0786-9DOI Listing
February 2017

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Pediatr Neurol 2016 06 17;59:71-75.e1. Epub 2016 Mar 17.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.02.010DOI Listing
June 2016

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.

Fetal Pediatr Pathol 2016 16;35(2):112-9. Epub 2016 Feb 16.

d Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW) , Maastricht University Medical Center , Maastricht , The Netherlands.

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http://dx.doi.org/10.3109/15513815.2016.1139018DOI Listing
December 2016

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 2015 Jun 11;30(6):952-7. Epub 2015 Mar 11.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfv014DOI Listing
June 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Neurology 2013 Dec;81(24):e178-81

From the Department of Neurology (W.G.L., B.G.E., M.M.V.) and Department of Pediatric Neurology (M.A.W.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands; Department of Pediatrics (C.J.d.W.), Genetics (E.J.K.), and Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Pediatrics and Pediatric Neurology (J.K.), Children's Hospital, Aschaffenburg, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000437294.20817.99DOI Listing
December 2013

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

JAMA Neurol 2013 Nov;70(11):1440-4

Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaneurol.2013.3090DOI Listing
November 2013

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

Mov Disord 2013 Sep 25;28(10):1439-42. Epub 2013 Jun 25.

Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/mds.25515DOI Listing
September 2013

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

J Neurol 2013 Jul 2;260(7):1765-9. Epub 2013 Mar 2.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00415-013-6870-xDOI Listing
July 2013

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Eur J Hum Genet 2013 Nov 27;21(11):1312-5. Epub 2013 Feb 27.

Department of Neurology, Radboud University, Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798836PMC
November 2013

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

Brain 2012 Dec 18;135(Pt 12):e223; author reply e224. Epub 2012 Sep 18.

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http://dx.doi.org/10.1093/brain/aws201DOI Listing
December 2012

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Brain 2012 Oct 10;135(Pt 10):2994-3004. Epub 2012 Sep 10.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1093/brain/aws224DOI Listing
October 2012

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

Neuropediatrics 2012 Jun 23;43(3):168-71. Epub 2012 May 23.

Division of Metabolic Disorders, Department of General Paediatrics, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0032-1315433DOI Listing
June 2012

Clinical utility gene card for: Gitelman syndrome.

Eur J Hum Genet 2011 Aug 23;19(8). Epub 2011 Feb 23.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172918PMC
August 2011

A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.

Clin Dysmorphol 2010 Oct;19(4):195-7

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e32833dc5eeDOI Listing
October 2010

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter.

Am J Physiol Renal Physiol 2010 Aug 14;299(2):F300-9. Epub 2010 Apr 14.

Department of Medicine, University of Chicago, Illinois, USA.

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http://dx.doi.org/10.1152/ajprenal.00441.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928521PMC
August 2010

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

Hum Mutat 2009 Oct;30(10):1387-96

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21068DOI Listing
October 2009

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.

J Am Soc Nephrol 2009 May 8;20(5):990-1001. Epub 2009 Apr 8.

Department of Physiology, Nijmegen Center of Molecular Sciences, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1681/ASN.2008060648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678037PMC
May 2009