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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Published in:
2018
By:
- Seong, Eunju;
- Insolera, Ryan;
- Dulovic, Marija;
- Kamsteeg, Erik‐Jan;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Sandford, Erin;
- Li, Sheng;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Jewett, Tamison;
- Kievit, Anneke J. A.;
- Münchau, Alexander;
- Shakkottai, Vikram;
- Klein, Christine;
- Collins, Catherine A.;
- Lohmann, Katja;
- van de Warrenburg, Bart P.;
- Burmeister, Margit;
- Kamsteeg, Erik-Jan
Publication type:
journal article
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Published in:
2020
By:
- Eidhof, Ilse;
- Baets, Jonathan;
- Kamsteeg, Erik-Jan;
- Schenck, Annette;
- Warrenburg, Bart P van de;
- van de Warrenburg, Bart P
Publication type:
Letter
De novo SPAST mutations may cause a complex SPG4 phenotype.
Published in:
2019
By:
- Schieving, Jolanda H;
- Bot, Susanne T de;
- Pol, Laura A van de;
- Wolf, Nicole I;
- Brilstra, Eva H;
- Frints, Suzanna G;
- Gaalen, Judith van;
- Misra-lsrie, Mala;
- Pennings, Maartje;
- Verschuuren-Bemelmans, Corien C;
- Kamsteeg, Erik-Jan;
- Warrenburg, Bart P van de;
- Willemsen, Michèl A;
- de Bot, Susanne T;
- van de Pol, Laura A;
- van Gaalen, Judith;
- van de Warrenburg, Bart P;
- Misra-Isrie, Mala
Publication type:
Letter
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Published in:
2018
By:
- Eidhof, Ilse;
- Baets, Jonathan;
- Kamsteeg, Erik-Jan;
- Deconinck, Tine;
- Ninhuijs, Lisa van;
- Martin, Jean-Jacques;
- Schüle, Rebecca;
- Züchner, Stephan;
- Jonghe, Peter De;
- Schenck, Annette;
- van Ninhuijs, Lisa;
- De Jonghe, Peter;
- van de Warrenburg, Bart P
Publication type:
journal article
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
Published in:
2017
By:
- de Bot, Susanne;
- Kamsteeg, Erik-Jan;
- van deWarrenburg, Bart P. C.;
- van de Warrenburg, Bart P C
Publication type:
Letter
An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
Published in:
EMBO Journal, 1999, v. 18, n. 9, p. 2394, doi. 10.1093/emboj/18.9.2394
By:
- Kamsteeg, Erik-Jan;
- Wormhoudt, Thera A. M.;
- Rijss, Johan P. L.;
- van Os, Carel H.;
- Deen, Peter M. T.
Publication type:
Article
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048068
By:
- De Vrieze, Jelena;
- van de Laar, Ingrid M.B.H.;
- de Rijk-van Andel, Johanneke F.;
- Kamsteeg, Erik-Jan;
- Kotsopoulos, Irene A.W.;
- de Man, Stella A.
Publication type:
Article
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048068
By:
- De Vrieze, Jelena;
- van de Laar, Ingrid M.B.H.;
- de Rijk-van Andel, Johanneke F.;
- Kamsteeg, Erik-Jan;
- Kotsopoulos, Irene A.W.;
- de Man, Stella A.
Publication type:
Article
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.
Published in:
Cerebellum, 2017, v. 16, n. 1, p. 268, doi. 10.1007/s12311-016-0786-9
By:
- Lindquist, Suzanne;
- Møller, Lisbeth;
- Dali, Christine;
- Marner, Lisbeth;
- Kamsteeg, Erik-Jan;
- Nielsen, Jørgen;
- Hjermind, Lena
Publication type:
Article
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
Published in:
Cephalalgia, 2015, v. 35, n. 1, p. 10, doi. 10.1177/0333102414532379
By:
- Weller, Claudia M;
- Vries, Boukje de;
- Geilenkirchen, Marije A;
- Terwindt, Gisela M;
- Leen, Wilhelmina G;
- Neville, Brian GR;
- Duncan, John S;
- Haan, Joost;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- Ferrari, Michel D;
- Maagdenberg, Arn MJM van den;
- Willemsen, Michèl AAP
Publication type:
Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Published in:
Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
By:
- Schobers, Gaby;
- Schieving, Jolanda H.;
- Yntema, Helger G.;
- Pennings, Maartje;
- Pfundt, Rolph;
- Derks, Ronny;
- Hofste, Tom;
- de Wijs, Ilse;
- Wieskamp, Nienke;
- van den Heuvel, Simone;
- Galbany, Jordi Corominas;
- Gilissen, Christian;
- Nelen, Marcel;
- Brunner, Han G.;
- Kleefstra, Tjitske;
- Kamsteeg, Erik-Jan;
- Willemsen, Michèl A. A. P.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
By:
- Schobers, Gaby;
- Schieving, Jolanda H.;
- Yntema, Helger G.;
- Pennings, Maartje;
- Pfundt, Rolph;
- Derks, Ronny;
- Hofste, Tom;
- de Wijs, Ilse;
- Wieskamp, Nienke;
- van den Heuvel, Simone;
- Galbany, Jordi Corominas;
- Gilissen, Christian;
- Nelen, Marcel;
- Brunner, Han G.;
- Kleefstra, Tjitske;
- Kamsteeg, Erik-Jan;
- Willemsen, Michèl A. A. P.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
By:
- O'Grady, Lauren;
- Schrier Vergano, Samantha A.;
- Hoffman, Trevor L.;
- Sarco, Dean;
- Cherny, Sara;
- Bryant, Emily;
- Schultz‐Rogers, Laura;
- Chung, Wendy K.;
- Sacharow, Stephanie;
- Immken, Ladonna L.;
- Holder, Susan;
- Blackwell, Rebecca R.;
- Buchanan, Catherine;
- Yusupov, Roman;
- Lecoquierre, François;
- Guerrot, Anne‐Marie;
- Rodan, Lance;
- de Vries, Bert B. A.;
- Kamsteeg, Erik Jan;
- Santos Simarro, Fernando
Publication type:
Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
By:
- Donkervoort, Sandra;
- Mohassel, Payam;
- Laugwitz, Lucia;
- Zaki, Maha S.;
- Kamsteeg, Erik‐Jan;
- Maroofian, Reza;
- Chao, Katherine R.;
- Verschuuren‐Bemelmans, Corien C.;
- Horber, Veronka;
- Fock, Annemarie J. M.;
- McCarty, Riley M.;
- Jain, Minal S.;
- Biancavilla, Victoria;
- McMacken, Grace;
- Nalls, Matthew;
- Voermans, Nicol C.;
- Elbendary, Hasnaa M.;
- Snyder, Molly;
- Cai, Chunyu;
- Lehky, Tanya J.
Publication type:
Article
KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1602, doi. 10.1002/ajmg.a.38723
By:
- Alsahli, Saud;
- Arold, Stefan T.;
- Alfares, Ahmed;
- Alhaddad, Bader;
- Al Balwi, Mohammed;
- Kamsteeg, Erik‐Jan;
- Al‐Twaijri, Waleed;
- Alfadhel, Majid
Publication type:
Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
Published in:
Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
By:
- Roscioli, Tony;
- Kamsteeg, Erik-Jan;
- Buysse, Karen;
- Maystadt, Isabelle;
- van Reeuwijk, Jeroen;
- van den Elzen, Christa;
- van Beusekom, Ellen;
- Riemersma, Moniek;
- Pfundt, Rolph;
- Vissers, Lisenka E L M;
- Schraders, Margit;
- Altunoglu, Umut;
- Buckley, Michael F;
- Brunner, Han G;
- Grisart, Bernard;
- Zhou, Huiqing;
- Veltman, Joris A;
- Gilissen, Christian;
- Mancini, Grazia M S;
- Delrée, Paul
Publication type:
Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Published in:
2021
By:
- Bouman, Karlijn;
- Groothuis, Jan T.;
- Doorduin, Jonne;
- van Alfen, Nens;
- Udink ten Cate, Floris E. A.;
- van den Heuvel, Frederik M. A.;
- Nijveldt, Robin;
- van Tilburg, Willem C. M.;
- Buckens, Stan C. F. M.;
- Dittrich, Anne T. M.;
- Draaisma, Jos M. T.;
- Janssen, Mirian C. H.;
- Kamsteeg, Erik-Jan;
- van Kleef, Esmee S. B.;
- Koene, Saskia;
- Smeitink, Jan A. M.;
- Küsters, Benno;
- van Tienen, Florence H. J.;
- Smeets, Hubert J. M.;
- van Engelen, Baziel G. M.
Publication type:
journal article
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Published in:
Journal of Cell Biology, 2003, v. 163, n. 5, p. 1099, doi. 10.1083/jcb.200309017
By:
- Kamsteeg, Erik-Jan;
- Bichet, Daniel G.;
- Konings, Irene B. M.;
- Nivet, Hubert;
- Lonergan, Michelle;
- Arthus, Marie-Françoise;
- van Os, Carel H.;
- Deen, Peter M. T.
Publication type:
Article
Genome sequencing as a generic diagnostic strategy for rare disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y
By:
- Schobers, Gaby;
- Derks, Ronny;
- den Ouden, Amber;
- Swinkels, Hilde;
- van Reeuwijk, Jeroen;
- Bosgoed, Ermanno;
- Lugtenberg, Dorien;
- Sun, Su Ming;
- Corominas Galbany, Jordi;
- Weiss, Marjan;
- Blok, Marinus J.;
- Olde Keizer, Richelle A. C. M.;
- Hofste, Tom;
- Hellebrekers, Debby;
- de Leeuw, Nicole;
- Stegmann, Alexander;
- Kamsteeg, Erik-Jan;
- Paulussen, Aimee D. C.;
- Ligtenberg, Marjolijn J. L.;
- Bradley, Xiangqun Zheng
Publication type:
Article
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.
Published in:
2016
By:
- Alwadei, Ali H;
- Benini, Ruba;
- Mahmoud, Adel;
- Alasmari, Ali;
- Kamsteeg, Erik‐Jan;
- Alfadhel, Majid
Publication type:
Case Study
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
By:
- de Bot, Susanne T;
- Burggraaff, Rogier C;
- Herkert, Johanna C;
- Schelhaas, Helenius J;
- Post, Bart;
- Diekstra, Adinda;
- van Vliet, Reinout O;
- van der Knaap, Marjo S;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- van de Warrenburg, Bart P;
- Verschuuren-Bemelmans, Corien C;
- Kremer, Hubertus PH
Publication type:
Article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
By:
- Kamsteeg, Erik-Jan;
- Kress, Wolfram;
- Catalli, Claudio;
- Hertz, Jens M;
- Witsch-Baumgartner, Martina;
- Buckley, Michael F;
- van Engelen, Baziel G M;
- Schwartz, Marianne;
- Scheffer, Hans
Publication type:
Article
Clinical utility gene card for: Gitelman syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.14
By:
- Knoers, Nine V. A. M.;
- Devuyst, Olivier;
- Kamsteeg, Erik-Jan
Publication type:
Article
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.
Published in:
Pflügers Archiv: European Journal of Physiology, 2008, v. 455, n. 6, p. 1041, doi. 10.1007/s00424-007-0364-6
By:
- Kamsteeg, Erik-Jan;
- Savelkoul, Paul J. M.;
- Hendriks, Giel;
- Konings, Irene B. M.;
- Nivillac, Nicole M. I.;
- Lagendijk, Anne Karine;
- van der Sluijs, Peter;
- Deen, Peter M. T.
Publication type:
Article
Physiological relevance of aquaporins: luxury or necessity?
Published in:
Pflügers Archiv: European Journal of Physiology, 2000, v. 440, n. 4, p. 513, doi. 10.1007/s004240000317
By:
- van Os, Carel H.;
- Kamsteeg, Erik-Jan;
- Marr, Nannette;
- Deen, Peter M.T.
Publication type:
Article
Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
Published in:
2020
By:
- Dekker, Marieke C. J.;
- Chengo, Rose;
- Kumburu, Happiness H.;
- Kamsteeg, Erik-Jan;
- Hamel, Ben C.
Publication type:
Case Study
Autosomal Recessive Cerebellar Ataxia Type 3 Due to AN010 Mutations.
Published in:
JAMA Neurology, 2014, v. 71, n. 10, p. 1305, doi. 10.1001/jamaneurol.2014.193
By:
- Renaud, Mathilde;
- Anheim, Mathieu;
- Kamsteeg, Erik-Jan;
- Mallaret, Martial;
- Mochel, Fanny;
- Vermeer, Sascha;
- Drouot, Nathalie;
- Pouget, Jean;
- Redin, Claire;
- Salort-Campana, Emmanuelle;
- Kremer, Hubertus P. H.;
- Verschuuren-Bemelmans, Corien C.;
- Muller, Jean;
- Scheffer, Hans;
- Durr, Alexandra;
- Tranchant, Christine;
- Koenig, Michel
Publication type:
Article
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome.
Published in:
JAMA Neurology, 2013, v. 70, n. 11, p. 1440, doi. 10.1001/jamaneurol.2013.3090
By:
- Leen, Wilhelmina G.;
- Wevers, Ron A.;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- Verbeek, Marcel M.;
- Willemsen, Michèl A.
Publication type:
Article
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44588-3
By:
- Leferink, Maike;
- Wong, Daphne P. W.;
- Cai, Shiwei;
- Yeo, Minli;
- Ho, Jocelin;
- Lian, Mulias;
- Kamsteeg, Erik-Jan;
- Chong, Samuel S.;
- Haer-Wigman, Lonneke;
- Guan, Ming
Publication type:
Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
By:
- Boissé Lomax, Lysa;
- Bayly, Marta A.;
- Hjalgrim, Helle;
- Møller, Rikke S.;
- Vlaar, Annemarie M.;
- Aaberg, Kari M.;
- Marquardt, Iris;
- Gandolfo, Luke C.;
- Willemsen, Michèl;
- Kamsteeg, Erik-Jan;
- O’Sullivan, John D.;
- Korenke, G. Christoph;
- Bloem, Bastiaan R.;
- de Coo, Irenaeus F.;
- Verhagen, Judith M. A.;
- Said, Ines;
- Prescott, Trine;
- Stray-Pedersen, Asbjørg;
- Rasmussen, Magnhild;
- Vears, Danya F.
Publication type:
Article
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. e223, doi. 10.1093/brain/aws201
By:
- de Bot, Susanne T.;
- Schelhaas, Helenius J.;
- Kamsteeg, Erik-Jan;
- van de Warrenburg, Bart P.C.
Publication type:
Article
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2994, doi. 10.1093/brain/aws224
By:
- van Gassen, Koen L. I.;
- van der Heijden, Charlotte D. C. C.;
- de Bot, Susanne T.;
- den Dunnen, Wilfred F. A.;
- van den Berg, Leonard H.;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, H. P. H.;
- Veldink, Jan H.;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- van de Warrenburg, Bart P.
Publication type:
Article
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1810, doi. 10.1093/brain/awq087
By:
- Willemsen, Michél A.;
- Verbeek, Marcel M.;
- Kamsteeg, Erik-Jan;
- de Rijk-van Andel, Johanneke F.;
- Aeby, Alec;
- Blau, Nenad;
- Burlina, Alberto;
- Donati, Maria A.;
- Geurtz, Ben;
- Grattan-Smith, Padraic J.;
- Haeussler, Martin;
- Hoffmann, Georg F.;
- Jung, Hans;
- de Klerk, Johannis B.;
- van der Knaap, Marjo S.;
- Kok, Fernando;
- Leuzzi, Vincenzo;
- de Lonlay, Pascale;
- Megarbane, Andre;
- Monaghan, Hugh
Publication type:
Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
By:
- Snoeijen‐Schouwenaars, Francesca M.;
- van Ool, Jans S.;
- Tan, In Y.;
- Verhoeven, Judith S.;
- Mierlo, Petra;
- Braakman, Hilde M. H.;
- Schelhaas, Helenius J.;
- Nicolai, Joost;
- Smeets, Eric E.;
- Stegmann, Alexander P.;
- Brunner, Han G.;
- Willemsen, Marjolein H.;
- Rouhl, Rob P. W.;
- Schoots, Jeroen;
- Yntema, Helger G.;
- Pfundt, Rolph;
- Kamsteeg, Erik‐Jan;
- Teunissen, Mariel W. A.
Publication type:
Article
A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair.
Published in:
Clinical Chemistry, 2023, v. 69, n. 3, p. 213, doi. 10.1093/clinchem/hvac141
By:
- Kamsteeg, Erik-Jan;
- Gilissen, Christian
Publication type:
Article
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
Published in:
Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
By:
- van Tol, Walinka;
- van Scherpenzeel, Monique;
- Alsady, Mohammad;
- Riemersma, Moniek;
- Hermans, Esther;
- Kragt, Else;
- Tasca, Giorgio;
- Kamsteeg, Erik-Jan;
- Pennings, Maartje;
- van Beusekom, Ellen;
- Vermeulen, Jeroen R.;
- van Bokhoven, Hans;
- Voermans, Nicol C.;
- Willemsen, Michèl A.;
- Ashikov, Angel;
- Lefeber, Dirk J.
Publication type:
Article
Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing.
Published in:
Clinical Chemistry, 2015, v. 61, n. 1, p. 154, doi. 10.1373/clinchem.2014.225250
By:
- Diekstra, Adinda;
- Bosgoed, Ermanno;
- Rikken, Alwin;
- van Lier, Bart;
- Kamsteeg, Erik-Jan;
- Tychon, Marloes;
- Derks, Ronny C.;
- van Soest, Ronald A.;
- Mensenkamp, Arjen R.;
- Scheffer, Hans;
- Neveling, Kornelia;
- Nelen, Marcel R.
Publication type:
Article
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
Published in:
2021
By:
- van de Locht, Martijn;
- Donkervoort, Sandra;
- de Winter, Josine M.;
- Conijn, Stefan;
- Begthel, Leon;
- Kusters, Benno;
- Mohasse, Payam;
- Ying Hu;
- Medne, Livija;
- Quinn, Colin;
- Moore, Steven A.;
- Foley, A. Reghan;
- Gwimoon Seo;
- Hwee, Darren T.;
- Malik, Fady I.;
- Irving, Thomas;
- Weikang Ma;
- Granzier, Henk L.;
- Kamsteeg, Erik-Jan;
- Immadisetty, Kalyan
Publication type:
journal article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
By:
- Bouman, Karlijn;
- Groothuis, Jan T.;
- Doorduin, Jonne;
- van Alfen, Nens;
- Udink ten Cate, Floris E.A.;
- van den Heuvel, Frederik M.A.;
- Nijveldt, Robin;
- Kamsteeg, Erik-Jan;
- Dittrich, Anne T.M.;
- Draaisma, Jos M.T.;
- Janssen, Mirian C.H.;
- van Engelen, Baziel G.M.;
- Erasmus, Corrie E.;
- Voermans, Nicol C.
Publication type:
Article
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018
By:
- van den Bersselaar, Luuk R.;
- van Alfen, Nens;
- Kruijt, Nick;
- Kamsteeg, Erik-Jan;
- Fernandez-Garcia, Miguel A.;
- Treves, Susan;
- Riazi, Sheila;
- Yang, Chu-Ya;
- Malagon, Ignacio;
- van Eijk, Lucas T.;
- van Engelen, Baziel G.M.;
- Scheffer, Gert-Jan;
- Jungbluth, Heinz;
- Snoeck, Marc M.J.;
- Voermans, Nicol C.
Publication type:
Article
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
By:
- Boon, Helena T.M.;
- Jacobs, Bram;
- Wouter, van Rheenen;
- Kamsteeg, Erik-Jan;
- Kuks, Jan B.M.;
- Vincent, Angela;
- Eymard, Bruno;
- Voermans, Nicol C.
Publication type:
Article
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
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Pediatric Dermatology, 2016, v. 33, n. 2, p. e48, doi. 10.1111/pde.12740
By:
- Noguera‐Morel, Lucero;
- Feito‐Rodríguez, Marta;
- Maldonado‐Cid, Paola;
- García‐Miñáur, Sixto;
- Kamsteeg, Erik‐Jan;
- González‐Sarmiento, Rogelio;
- Lucas‐Laguna, Raúl;
- Hernández‐Martín, Angela;
- Torrelo, Antonio
Publication type:
Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
By:
- Reumers, Stacha F. I.;
- Erasmus, Corrie E.;
- Bouman, Karlijn;
- Pennings, Maartje;
- Schouten, Meyke;
- Kusters, Benno;
- Duijkers, Floor A. M.;
- van der Kooi, Anneke;
- Jaeger, Bregje;
- Verschuuren‐Bemelmans, Corien C.;
- Faber, Catharina G.;
- van Engelen, Baziel G.;
- Kamsteeg, Erik‐Jan;
- Jungbluth, Heinz;
- Voermans, Nicol C.
Publication type:
Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Published in:
2018
By:
- Chatron, Nicolas;
- Møller, Rikke S.;
- Champaigne, Neena L.;
- Schneider, Amy L.;
- Kuechler, Alma;
- Labalme, Audrey;
- Simonet, Thomas;
- Baggett, Lauren;
- Bardel, Claire;
- Kamsteeg, Erik‐jan;
- Pfundt, Rolph;
- Romano, Corrado;
- Aronsson, Johan;
- Alberti, Antonino;
- Vinci, Mirella;
- Miranda, Maria J.;
- Lacroix, Amy;
- Marjanovic, Dragan;
- Des Portes, Vincent;
- Edery, Patrick
Publication type:
journal article
Missorting to late endosome/lysosomes due to increased phosphorylation by protein kinase C and mono- ubiquitination of the Aquaporin-2 mutant E258K might explain its role in dominant Nephrogenic Diabetes Insipidus.
Published in:
FASEB Journal, 2007, v. 21, n. 6, p. A956, doi. 10.1096/fasebj.21.6.a956-a
By:
- Deen, Peter M. T.;
- Savelkoul, Paul J. M.;
- Kamsteeg, Erik-Jan;
- Hendriks, Giel;
- Konings, Irene B. M.;
- Van Der Sluijs, Peter
Publication type:
Article
Genetic characterization of primary lateral sclerosis.
Published in:
Journal of Neurology, 2023, v. 270, n. 8, p. 3970, doi. 10.1007/s00415-023-11746-7
By:
- de Boer, Eva M. J.;
- de Vries, Balint S.;
- Pennings, Maartje;
- Kamsteeg, Erik-Jan;
- Veldink, Jan H.;
- van den Berg, Leonard H.;
- van Es, Michael A.
Publication type:
Article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Published in:
Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
By:
- Ghorbani, Fatemeh;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Pennings, Maartje;
- de Boer, Eddy N.;
- Kremer, Berry;
- Vanhoutte, Els K.;
- de Vries, Jeroen J.;
- van de Berg, Raymond;
- Kamsteeg, Erik-Jan;
- van Diemen, Cleo C.;
- Westers, Helga;
- van de Warrenburg, Bart P.;
- Verbeek, Dineke S.
Publication type:
Article
The complexities of CACNA1A in clinical neurogenetics.
Published in:
Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
By:
- Hommersom, Marina P.;
- van Prooije, Teije H.;
- Pennings, Maartje;
- Schouten, Meyke I.;
- van Bokhoven, Hans;
- Kamsteeg, Erik-Jan;
- van de Warrenburg, Bart P. C.
Publication type:
Article
Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
Published in:
Journal of Neurology, 2013, v. 260, n. 7, p. 1765, doi. 10.1007/s00415-013-6870-x
By:
- Bot, Susanne;
- Vermeer, Sascha;
- Buijsman, Wendy;
- Heister, Angelien;
- Voorendt, Marsha;
- Verrips, Aad;
- Scheffer, Hans;
- Kremer, Hubertus;
- Warrenburg, Bart;
- Kamsteeg, Erik-Jan
Publication type:
Article
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor ( RYR1) gene.
Published in:
Journal of Neurology, 2013, v. 260, n. 6, p. 1504, doi. 10.1007/s00415-012-6817-7
By:
- Løseth, Sissel;
- Voermans, Nicol;
- Torbergsen, Torberg;
- Lillis, Sue;
- Jonsrud, Christoffer;
- Lindal, Sigurd;
- Kamsteeg, Erik-Jan;
- Lammens, Martin;
- Broman, Marcus;
- Dekomien, Gabriele;
- Maddison, Paul;
- Muntoni, Francesco;
- Sewry, Caroline;
- Radunovic, Aleksandar;
- Visser, Marianne;
- Straub, Volker;
- Engelen, Baziel;
- Jungbluth, Heinz
Publication type:
Article

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