Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome
Dambietz, Christine Anna, Doescher, Andrea, Heming, Michael, Schirmacher, Anja, Schlüter, Bernhard, Schulte-Mecklenbeck, Andrea, Thomas, Christian, Wiendl, Heinz, Meyer Zu Hörste, Gerd, Wiethoff, Sarah
Published in Frontiers in genetics (21.08.2024)
Published in Frontiers in genetics (21.08.2024)
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Journal Article
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia
Duning, Thomas, Warnecke, Tobias, Schirmacher, Anja, Schiffbauer, Hagen, Lohmann, Hubertus, Mohammadi, Siawoosh, Young, Peter, Deppe, Michael
Published in Movement disorders (15.09.2010)
Published in Movement disorders (15.09.2010)
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Journal Article
REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy
Gess, Burkhard, Jeibmann, Astrid, Schirmacher, Anja, Kleffner, Ilka, Schilling, Matthias, Young, Peter
Published in Muscle & nerve (01.04.2011)
Published in Muscle & nerve (01.04.2011)
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Journal Article
Norepinephrine transporter (NET) promoter and 5′-UTR polymorphisms: association analysis in panic disorder
Lee, Yoo J., Hohoff, Christa, Domschke, Katharina, Sand, Philipp, Kuhlenbäumer, Gregor, Schirmacher, Anja, Freitag, Christine M., Meyer, Jobst, Stöber, Gerald, Franke, Petra, Nöthen, Markus M., Fritze, Jürgen, Fimmers, Rolf, Garritsen, Henk S., Stögbauer, Florian, Deckert, Jürgen
Published in Neuroscience letters (22.03.2005)
Published in Neuroscience letters (22.03.2005)
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Journal Article
Specific T-cell activation in peripheral blood and cerebrospinal fluid in central disorders of hypersomnolence
Lippert, Julian, Young, Peter, Gross, Catharina, Meuth, Sven G, Dräger, Bianca, Schirmacher, Anja, Heidbreder, Anna
Published in Sleep (New York, N.Y.) (01.02.2019)
Published in Sleep (New York, N.Y.) (01.02.2019)
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Journal Article
Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
Dohrn, Maike F., Glöckle, Nicola, Mulahasanovic, Lejla, Heller, Corina, Mohr, Julia, Bauer, Christine, Riesch, Erik, Becker, Andrea, Battke, Florian, Hörtnagel, Konstanze, Hornemann, Thorsten, Suriyanarayanan, Saranya, Blankenburg, Markus, Schulz, Jörg B., Claeys, Kristl G., Gess, Burkhard, Katona, Istvan, Ferbert, Andreas, Vittore, Debora, Grimm, Alexander, Wolking, Stefan, Schöls, Ludger, Lerche, Holger, Korenke, G. Christoph, Fischer, Dirk, Schrank, Bertold, Kotzaeridou, Urania, Kurlemann, Gerhard, Dräger, Bianca, Schirmacher, Anja, Young, Peter, Schlotter‐Weigel, Beate, Biskup, Saskia
Published in Journal of neurochemistry (01.12.2017)
Published in Journal of neurochemistry (01.12.2017)
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Journal Article
Not Only Sleepwalking But NREM Parasomnia Irrespective of the Type Is Associated with HLA DQB105:01
Heidbreder, Anna, Frauscher, Birgit, Mitterling, Thomas, Boentert, Matthias, Schirmacher, Anja, Hörtnagl, Paul, Schennach, Harald, Massoth, Christina, Happe, Svenja, Mayer, Geert, Young, Peter, Högl, Birgit
Published in Journal of clinical sleep medicine (15.04.2016)
Published in Journal of clinical sleep medicine (15.04.2016)
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Journal Article
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum
Gess, Burkhard, Auer-Grumbach, Michaela, Schirmacher, Anja, Strom, Tim, Zitzelsberger, Manuela, Rudnik-Schöneborn, Sabine, Röhr, Dominik, Halfter, Hartmut, Young, Peter, Senderek, Jan
Published in Neurology (04.11.2014)
Published in Neurology (04.11.2014)
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Journal Article
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
Vill, Katharina, Müller-Felber, Wolfgang, Gläser, Dieter, Kuhn, Marius, Teusch, Veronika, Schreiber, Herbert, Weis, Joachim, Klepper, Jörg, Schirmacher, Anja, Blaschek, Astrid, Wiessner, Manuela, Strom, Tim M., Dräger, Bianca, Hofmeister-Kiltz, Kristina, Tacke, Moritz, Gerstl, Lucia, Young, Peter, Horvath, Rita, Senderek, Jan
Published in Human genetics (01.12.2018)
Published in Human genetics (01.12.2018)
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Journal Article
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
Synofzik, Matthis, Schüle, Rebecca, Schulze, Martin, Gburek-Augustat, Janina, Schweizer, Roland, Schirmacher, Anja, Krägeloh-Mann, Ingeborg, Gonzalez, Michael, Young, Peter, Züchner, Stephan, Schöls, Ludger, Bauer, Peter
Published in Orphanet journal of rare diseases (17.04.2014)
Published in Orphanet journal of rare diseases (17.04.2014)
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Journal Article
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C
Suriyanarayanan, Saranya, Othman, Alaa, Dräger, Bianca, Schirmacher, Anja, Young, Peter, Mulahasanovic, Lejla, Hörtnagel, Konstanze, Biskup, Saskia, von Eckardstein, Arnold, Hornemann, Thorsten, Lone, Museer A.
Published in Neuromolecular medicine (01.06.2019)
Published in Neuromolecular medicine (01.06.2019)
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Journal Article
Behr syndrome with homozygous C19ORF12 mutation
Kleffner, Ilka, Wessling, Caroline, Gess, Burkhard, Korsukewitz, Catharina, Allkemper, Thomas, Schirmacher, Anja, Young, Peter, Senderek, Jan, Husstedt, Ingo W
Published in Journal of the neurological sciences (15.10.2015)
Published in Journal of the neurological sciences (15.10.2015)
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Journal Article
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects
Warnecke, Tobias, Duning, Thomas, Schirmacher, Anja, Mohammadi, Siawoosh, Schwindt, Wolfram, Lohmann, Hubertus, Dziewas, Rainer, Deppe, Michael, Ringelstein, E. Bernd, Young, Peter
Published in Movement disorders (15.03.2010)
Published in Movement disorders (15.03.2010)
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Journal Article
Enhanced Rapid-Onset Cortical Plasticity in CADASIL as a Possible Mechanism of Preserved Cognition
List, Jonathan, Duning, Thomas, Meinzer, Marcus, Kürten, Julia, Schirmacher, Anja, Deppe, Michael, Evers, Stefan, Young, Peter, Flöel, Agnes
Published in Cerebral cortex (New York, N.Y. 1991) (01.12.2011)
Published in Cerebral cortex (New York, N.Y. 1991) (01.12.2011)
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