Erik-Jan Kamsteeg

Erik-Jan Kamsteeg

UNVERIFIED PROFILE

Are you Erik-Jan Kamsteeg?   Register this Author

Register author
Erik-Jan Kamsteeg

Erik-Jan Kamsteeg

Publications by authors named "Erik-Jan Kamsteeg"

Are you Erik-Jan Kamsteeg?   Register this Author

96Publications

3875Reads

22Profile Views

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.

View Article

Download full-text PDF

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

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

Am J Hum Genet 2019 Nov 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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 Jul;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.

View Article

Download full-text PDF

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

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

Parkinsonism Relat Disord 2019 May 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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Brain 2018 09;141(9):2592-2604

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

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/advance-article/doi/10.1093/b
Publisher Site
http://dx.doi.org/10.1093/brain/awy198DOI 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Pflugers Arch 2008 Mar 27;455(6):1041-54. Epub 2007 Oct 27.

Department of Physiology, Radboud University Nijmegen Medical Center, Research Tower, 7th floor; UMC St Radboud, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00424-007-0364-6
Publisher Site
http://dx.doi.org/10.1007/s00424-007-0364-6DOI Listing
March 2008

Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels.

J Biol Chem 2008 Mar 22;283(12):7674-81. Epub 2008 Jan 22.

Department of Pharmacology, New York Medical College, Valhalla, New York 10595, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M705574200DOI Listing
March 2008

MAL decreases the internalization of the aquaporin-2 water channel.

Proc Natl Acad Sci U S A 2007 Oct 10;104(42):16696-701. Epub 2007 Oct 10.

Department of Cellular and Molecular Physiology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0708023104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034241PMC
October 2007

Tetraspan proteins: regulators of renal structure and function.

Curr Opin Nephrol Hypertens 2007 Jul;16(4):353-8

Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06525-8026, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00041552-200707000-000
Publisher Site
http://dx.doi.org/10.1097/MNH.0b013e328177b1faDOI Listing
July 2007

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel.

Proc Natl Acad Sci U S A 2006 Nov 13;103(48):18344-9. Epub 2006 Nov 13.

Department of Physiology, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0604073103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838753PMC
November 2006

Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity.

J Am Soc Nephrol 2006 Apr 22;17(4):1063-72. Epub 2006 Feb 22.

Department of Physiology, 286 Nijmegen Center for Molecular Life Sciences, RUNMC Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://physiomics.eu/media/14260/jasn17_1063.pdf
Web Search
http://www.jasn.org/cgi/doi/10.1681/ASN.2005080884
Publisher Site
http://dx.doi.org/10.1681/ASN.2005080884DOI Listing
April 2006

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

J Am Soc Nephrol 2005 Oct 24;16(10):2872-80. Epub 2005 Aug 24.

Department of Cell Physiology, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2005010104DOI Listing
October 2005

The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit.

Proc Natl Acad Sci U S A 2003 Dec 5;100(26):15560-5. Epub 2003 Dec 5.

Department of Cellular and Molecular Physiology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.2536699100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC307607PMC
December 2003

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

J Cell Biol 2003 Dec;163(5):1099-109

Department of Physiology, Nijmegen Center for Molecular Life Sciences, University Medical Center Nijmegen, Research Tower, 7th Floor, Geert 30, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.200309017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2173618PMC
December 2003

Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane.

Am J Physiol Renal Physiol 2002 Feb;282(2):F330-40

Department of Cell Physiology, University Medical Center St. Radboud, Nijmegen 6500 HB, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajprenal.0168.2001DOI Listing
February 2002