検索結果 - Kamsteeg, Erik-Jan

Clinical utility gene card for: Gitelman syndrome 著者: Knoers, Nine VAM, Devuyst, Olivier, Kamsteeg, Erik-Jan

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The tetraspanin CD63 enhances the internalization of the H,K-ATPase β-subunit 著者: Duffield, Amy, Kamsteeg, Erik-Jan, Brown, Andrea N., Pagel, Philipp, Caplan, Michael J.

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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 at... 著者: Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Schenck, Annette, van de Warrenburg, Bart P

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Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa 著者: Dekker, Marieke C.J., Chengo, Rose, Kumburu, Happiness H., Kamsteeg, Erik-Jan, Hamel, Ben C.

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RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter 著者: Ko, Benjamin, Kamsteeg, Erik-Jan, Cooke, Leslie L., Moddes, Lauren N., Deen, Peter M. T., Hoover, Robert S.

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MAL decreases the internalization of the aquaporin-2 water channel 著者: Kamsteeg, Erik-Jan, Duffield, Amy S., Konings, Irene B. M., Spencer, Joanna, Pagel, Philipp, Deen, Peter M. T., Caplan, Michael J.

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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes 著者: Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten

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Anaesthesia and neuromuscular disorders: what a neurologist needs to know 著者: van den Bersselaar, Luuk R, Snoeck, Marc M J, Gubbels, Madelief, Riazi, Sheila, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Voermans, Nicol C

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Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel 著者: Kamsteeg, Erik-Jan, Hendriks, Giel, Boone, Michelle, Konings, Irene B. M., Oorschot, Viola, van der Sluijs, Peter, Klumperman, Judith, Deen, Peter M. T.

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Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report 著者: Teunissen, Mariel W.A., Kamsteeg, Erik-Jan, Sallevelt, Suzanne C.E.H., Pennings, Maartje, Bauer, Noel J.C., Vermeulen, R. Jeroen, Nicolai, Joost

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

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Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test 著者: 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

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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 著者: 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

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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity 著者: Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M., Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein, Wang, Qing Kenneth

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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders 著者: van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders 著者: van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

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Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series 著者: 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.

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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia 著者: Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P

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LIP5 Interacts with Aquaporin 2 and Facilitates Its Lysosomal Degradation 著者: van Balkom, Bas W.M., Boone, Michelle, Hendriks, Giel, Kamsteeg, Erik-Jan, Robben, Joris H., Stronks, H. Christiaan, van der Voorde, Anne, van Herp, Francois, van der Sluijs, Peter, Deen, Peter M.T.

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome 著者: Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan

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