Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Andreas Ferbert"'
Autor:
Christine Klein, Daniel Alvarez-Fischer, Aloysius Domingo, Andrew A. Hicks, Günther Schifferle, Ana Westenberger, Peter P. Pramstaller, Zbigniew K. Wszolek, Rosa Rademakers, Andreas Ferbert, Karen Grütz, Uwe Gebert, Claudia B. Volpato, Ebba Buffone
Publikováno v:
Movement Disorders. 31:1901-1904
Background Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families,
Autor:
Antje Bornemann, Lukas J. Schnitzler, Christian Hartmann, Peter De Jonghe, Jens Reimann, Peter Van den Bergh, Andreas Meisel, Jörg B. Schulz, Jens A. Petersen, Aleksandra Nadaj-Pakleza, Joachim Weis, Philip Van Damme, Kristl G. Claeys, Andreas Ferbert, Elisabeth J. Rushing, Tobias Schreckenbach, Thomas Tousseyn, Jean-Jacques Martin, Werner Stenzel, Dietmar Rudolf Thal, Susanne Petri
Publikováno v:
Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseases
Orphanet journal of rare diseases : OJRD 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Published by BioMed Central, London
Published by BioMed Central, London
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6b
https://hdl.handle.net/2078.1/185606
https://hdl.handle.net/2078.1/185606
Autor:
Carolyn M. Sue, Daniel Alvarez-Fischer, Eckart Altenmüller, Kristina Simonyan, Justus L. Groen, Björn Arns, Andreas Ferbert, Vladimir S. Kostic, Aleksandar Rakovic, Meike Kasten, Marc Agzarian, Katja Zschiedrich, Jin-Sung Park, Alexander Schmidt, Alexander Münchau, Johann Hagenah, Norbert Brüggemann, Katja Lohmann, Anthony E. Lang, Christine Klein, Robert A. Wilcox, Alfredo Ramirez, Susen Winkler, Thora Lohnau, Antonius P. M. Langeveld, Frank J. Kaiser, Laurie J. Ozelius, Marina A. J. Tijssen, Kishore R. Kumar
Publikováno v:
Annals of Neurology. 73:537-545
Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family
Autor:
Andreas Ferbert, Andreas Unger, Thomas Dreps, Martin Tegenthoff, Sabine Hoffjan, Lilian A. Martinez-Carrera, Matthias Vorgerd, Rudolf A. Kley, Brunhilde Wirth, Anne Katrin Güttsches, Christoph M. Heyer, Wolfgang A. Linke, Markus Storbeck, Gabriele Dekomien, Joachim Weis
Publikováno v:
Neurology. 87(21)
Objective:To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene–related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mut
Autor:
Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9
Background Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7
https://hal.archives-ouvertes.fr/hal-01117408
https://hal.archives-ouvertes.fr/hal-01117408
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy
Autor:
Maike F. Dohrn, Matthias Vorgerd, Joachim Weis, Jan De Bleecker, Peter Van den Bergh, Kristl G. Claeys, Jörg B. Schulz, Jean-Jacques Martin, Katrin Hinderhofer, Andreas Ferbert, Christoph Röcken, J. Michael Schröder
Publikováno v:
Journal of Neurology : official journal of the European Neurological Society, Vol. 260, no.12, p. 3093-3108 (2013)
Journal of neurology
Journal of neurology
Familial amyloid polyneuropathy (FAP) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (TTR) gene. We studied clinical, electrophysiological, histopathological, and genetic characteristics in 15
Autor:
Christian L. Roth, Andreas Ferbert
Publikováno v:
Journal of neuroimaging : official journal of the American Society of Neuroimaging. 23(1)
Autor:
Cornelius Weiller, Andreas Ferbert
Publikováno v:
European Archives of Psychiatry and Clinical Neuroscience. 240:246-249
Clinical and electrophysiological findings are described in three patients with hereditary motor and sensory neuropathy in association with optic atrophy (HMSN VI). The optic atrophy was of the Leber type in a 15-year-old boy. In a 70-year-old patien
Autor:
C. Liebe, Jan Bürmann, Oliver J. Müller, Kristl G. Claeys, Matthias Vorgerd, P. Van den Bergh, J.J. Martin, R. Anderheiden, Wolfram Kress, Marcus Deschauer, Eva Neuen-Jacob, J. M. Schröder, Sabrina Sacconi, Markus Bergmann, Jörg B. Schulz, Joachim Weis, P. De Jonghe, Rudolf A. Kley, A. Semmler, Andreas Ferbert, J.E. Bach
Publikováno v:
Neuromuscular Disorders. 24:831
Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogenous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with respiratory and/or extraskeletal involvement
Publikováno v:
Movement Disorders. 8:232-233