Ext LMU Klinik

⇧ M DZNE ⇧

Recent Publications

All known publications ...
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http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Catarino, C. B. ; Vollmar, C. ; Küpper, C.DZNE* ; Seelos, K. ; Gallenmüller, C. ; Bartkiewicz, J. ; Biskup, S. ; Hörtnagel, K. ; Klopstock, T. (Last author)DZNE*
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
Journal of neurology 265(2), 388-393 (2018) [10.1007/s00415-017-8711-9]2018   Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Küpper, C. (First author)DZNE* ; Levin, J.DZNE* ; Klopstock, T. (Last author)DZNE*
Eisen im alternden Gehirn
Aktuelle Neurologie 43(01), 32-40 (2016) [10.1055/s-0035-1565121]2016 BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Synofzik, M. (First author)DZNE* ; Smets, K. ; Mallaret, M. ; Di Bella, D. ; Gallenmüller, C.DZNE* ; Baets, J. ; Schulze, M. ; Magri, S. ; Sarto, E. ; Mustafa, M. ; Deconinck, T. ; Haack, T. ; Züchner, S. ; Gonzalez, M. ; Timmann, D. ; Stendel, C.DZNE* ; Klopstock, T.DZNE* ; Durr, A. ; Tranchant, C. ; Sturm, M. ; Hamza, W. ; Nanetti, L. ; Mariotti, C. ; Koenig, M. ; Schöls, L.DZNE* ; Schüle, R.DZNE* ; de Jonghe, P. ; Anheim, M. ; Taroni, F. ; Bauer, P.
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Brain 139(5), 1378-1393 (2016) [10.1093/brain/aww079]2016   Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Schüle, R. (First author)DZNE* ; Wiethoff, S. ; Martus, P. ; Karle, K. N.DZNE* ; Otto, S. ; Klebe, S. ; Klimpe, S. ; Gallenmüller, C.DZNE* ; Kurzwelly, D.DZNE* ; Henkel, D.DZNE* ; Rimmele, F.DZNE* ; Stolze, H. ; Kohl, Z. ; Kassubek, J. ; Klockgether, T.DZNE* ; Vielhaber, S.DZNE* ; Kamm, C.DZNE* ; Klopstock, T.DZNE* ; Bauer, P. ; Züchner, S. ; Liepelt-Scarfone, I.DZNE* ; Schöls, L. (Last author)DZNE*
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Annals of neurology 79(4), 646-658 (2016) [10.1002/ana.24611]2016 BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Kremer, L. S. ; Distelmaier, F. ; Alhaddad, B. ; Hempel, M. ; Iuso, A. ; Küpper, C.DZNE* ; Mühlhausen, C. ; Kovacs-Nagy, R. ; Satanovskij, R. ; Graf, E. ; Berutti, R. ; Eckstein, G. ; Durbin, R. ; Sauer, S. ; Hoffmann, G. F. ; Strom, T. M. ; Santer, R. ; Meitinger, T. (Corresponding author)DZNE* ; Klopstock, T.DZNE* ; Prokisch, H. ; Haack, T. B.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
The American journal of human genetics 98(2), 358-362 (2016) [10.1016/j.ajhg.2015.12.009]2016   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Erratum/Correction) Schludi, M. H. (First author)DZNE* ; May, S.DZNE* ; Grässer, F. A. ; Rentzsch, K.DZNE* ; Kremmer, E.DZNE* ; Küpper, C.DZNE* ; Klopstock, T.DZNE* ; Degeneration, G. C. f. F. L. ; Alliance, B. B. B. ; Arzberger, T. (Corresponding author)DZNE* ; Edbauer, D. (Last author)DZNE*
Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Acta neuropathologica 130(4), 557-558 (2015) [10.1007/s00401-015-1464-6]2015   Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Schludi, M. H. (First author)DZNE* ; May, S.DZNE* ; Grässer, F. A. ; Rentzsch, K.DZNE* ; Kremmer, E.DZNE* ; Küpper, C.DZNE* ; Klopstock, T.DZNE* ; Degeneration, G. C. f. F. L. ; Alliance, B. B. B. ; Arzberger, T. (Corresponding author)DZNE* ; Edbauer, D. (Last author)DZNE* ; Danek, A. ; Diehl-Schmid, J. ; Fassbender, K. ; Förstl, H. ; Kornhuber, J. ; Otto, M. ; Ceballos-Baumann, A. ; Dieterich, M. ; Feuerecker, R. ; Giese, A. ; Klünemann, H. ; Kurz, A. ; Levin, J. ; Lorenzl, S. ; Meyer, T. ; Nübling, G. ; Roeber, S.
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Acta neuropathologica 130(4), 537-555 (2015) [10.1007/s00401-015-1450-z]2015   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Letter) Stendel, C. (First author)DZNE* ; Gallenmüller, C.DZNE* ; Peters, K. ; Bürger, F. ; Gramer, G. ; Biskup, S. ; Klopstock, T. (Last author)DZNE*
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
Journal of neurology 262(4), 1072-1073 (2015) [10.1007/s00415-015-7729-0]2015 BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Letter) Kuhm, C. ; Gallenmüller, C.DZNE* ; Dörk, T. ; Menzel, M. ; Biskup, S. ; Klopstock, T. (Last author)DZNE*
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
Journal of neurology 262(3), 768-770 (2015) [10.1007/s00415-015-7636-4]2015 BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article D'Adamo, M. C. ; Gallenmüller, C.DZNE* ; Servettini, I. ; Hartl, E. ; Tucker, S. J. ; Arning, L. ; Biskup, S. ; Grottesi, A. ; Guglielmi, L. ; Imbrici, P. ; Bernasconi, P. ; Di Giovanni, G. ; Franciolini, F. ; Catacuzzeno, L. ; Pessia, M. (Corresponding author) ; Klopstock, T. (Last author)DZNE*
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Frontiers in physiology 5, 525 (2015) [10.3389/fphys.2014.00525]2015   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS |