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Anzahl der Publikationen: 7
Zeitschriftenartikel
Rabenstein, Andrea; Catarino, Claudia B.; Rampeltshammer, Verena; Schindler, David; Gallenmüller, Constanze; Priglinger, Claudia; Pogarell, Oliver; Rüther, Tobias und Klopstock, Thomas
(2021):
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 127
[PDF, 1MB]
Rabenstein, Andrea; Catarino, Claudia B.; Rampeltshammer, Verena; Schindler, David; Gallenmüller, Constanze; Priglinger, Claudia; Pogarell, Oliver; Rüther, Tobias und Klopstock, Thomas
(2021):
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 127
Catarino, Claudia B.; Vollmar, Christian; Kuepper, Clemens; Seelos, Klaus; Gallenmüller, Constanze; Bartkiewicz, Joanna; Biskup, Saskia; Hoertnagel, Konstanze und Klopstock, Thomas
(2018):
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
In: Journal of Neurology, Bd. 265, Nr. 2: S. 388-393
Klopstock, Thomas; Metz, Guenther; Gallenmüller, Constanze; Livonius, Bettina von; Lob, Felice; Meier, Thomas und Catarino, Claudia
(2016):
Idebenone Is Effective and Well Tolerated in Leber's Hereditary Optic Neuropathy (LHON): Results of a 3-Year Expanded Access Program.
In: Neurology, Bd. 86
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393
Schüle, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmüller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph; Klopstock, Thomas; Bauer, Peter; Züchner, Stephan; Liepelt-Scarfone, Inga und Schöls, Ludger
(2016):
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
In: Annals of Neurology, Bd. 79, Nr. 4: S. 646-658
D'Adamo, Maria Cristina; Gallenmüller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro und Klopstock, Thomas
(2015):
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
In: Frontiers in Physiology, Bd. 5, 525
[PDF, 5MB]