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Published in: Journal of Neurology 11/2014

01-11-2014 | Letter to the Editors

X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration

Authors: Aloysius Domingo, Thomas G. P. M. Schmidt, Ela Barcelon, Marissa Lukban, Ana Westenberger, Christine Klein

Published in: Journal of Neurology | Issue 11/2014

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Excerpt

Dear Sirs, …
Literature
4.
go back to reference Papapetropoulos S, Friedman J, Blackstone C, Kleiner GI, Bowen BC, Singer C (2007) A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy. Mov Disord 22:1664–1666. doi:10.1002/mds.21631 CrossRefPubMed Papapetropoulos S, Friedman J, Blackstone C, Kleiner GI, Bowen BC, Singer C (2007) A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy. Mov Disord 22:1664–1666. doi:10.​1002/​mds.​21631 CrossRefPubMed
7.
go back to reference Velickovic M, Prasad ML, Weston SA, Benson EM (2004) Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA). Hum Mutat 23:398–399. doi:10.1002/humu.9228 CrossRefPubMed Velickovic M, Prasad ML, Weston SA, Benson EM (2004) Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA). Hum Mutat 23:398–399. doi:10.​1002/​humu.​9228 CrossRefPubMed
10.
go back to reference Yang EJ, Yoon JH, Chung KC (2004) Bruton’s tyrosine kinase phosphorylates cAMP-responsive element-binding protein at serine 133 during neuronal differentiation in immortalized hippocampal progenitor cells. J Biol Chem 279:1827–1837. doi:10.1074/jbc.M308722200 CrossRefPubMed Yang EJ, Yoon JH, Chung KC (2004) Bruton’s tyrosine kinase phosphorylates cAMP-responsive element-binding protein at serine 133 during neuronal differentiation in immortalized hippocampal progenitor cells. J Biol Chem 279:1827–1837. doi:10.​1074/​jbc.​M308722200 CrossRefPubMed
Metadata
Title
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration
Authors
Aloysius Domingo
Thomas G. P. M. Schmidt
Ela Barcelon
Marissa Lukban
Ana Westenberger
Christine Klein
Publication date
01-11-2014
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 11/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-014-7483-8

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