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Anzahl der Publikationen: 7
Zeitschriftenartikel
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger
(2024):
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
In: Brain
[PDF, 555kB]
Dinkel, Lina 
ORCID: https://orcid.org/0000-0002-5380-3152; Hummel, Selina ORCID: https://orcid.org/0009-0001-2902-6082; Zenatti, Valerio ORCID: https://orcid.org/0009-0007-2127-6267; Malara, Mariagiovanna ORCID: https://orcid.org/0000-0001-6417-9685; Tillmann, Yannik; Colombo, Alessio; Monasor, Laura Sebastian ORCID: https://orcid.org/0000-0001-7864-7400; Suh, Jung H. ORCID: https://orcid.org/0000-0001-8119-326X; Logan, Todd ORCID: https://orcid.org/0000-0003-2081-782X; Roth, Stefan ORCID: https://orcid.org/0000-0001-6823-2981; Paeger, Lars ORCID: https://orcid.org/0000-0001-8716-3483; Hoffelner, Patricia ORCID: https://orcid.org/0009-0009-9728-8162; Bludau, Oliver ORCID: https://orcid.org/0009-0005-9426-0325; Schmidt, Andree ORCID: https://orcid.org/0000-0002-8254-0777; Müller, Stephan A. ORCID: https://orcid.org/0000-0003-3414-307X; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Nuscher, Brigitte; Njavro, Jasenka Rudan; Prestel, Matthias; Bartos, Laura M. ORCID: https://orcid.org/0009-0007-6158-319X; Wind-Mark, Karin ORCID: https://orcid.org/0000-0002-5461-1873; Slemann, Luna; Hoermann, Leonie ORCID: https://orcid.org/0009-0006-9074-3474; Kunte, Sebastian T. ORCID: https://orcid.org/0009-0007-3543-5329; Gnörich, Johannes ORCID: https://orcid.org/0000-0003-1554-7765; Lindner, Simon ORCID: https://orcid.org/0009-0007-4379-4436; Simons, Mikael; Herms, Jochen; Paquet, Dominik ORCID: https://orcid.org/0000-0003-2065-1639; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575; Bartenstein, Peter ORCID: https://orcid.org/0009-0005-0734-4994; Franzmeier, Nicolai ORCID: https://orcid.org/0000-0001-9736-2283; Liesz, Arthur ORCID: https://orcid.org/0000-0002-9069-2594; Grosche, Antje ORCID: https://orcid.org/0000-0003-0338-7530; Bremova-Ertl, Tatiana ORCID: https://orcid.org/0000-0002-7397-045X; Catarino, Claudia ORCID: https://orcid.org/0000-0002-6528-7570; Beblo, Skadi; Bergner, Caroline; Schneider, Susanne A.; Strupp, Michael ORCID: https://orcid.org/0000-0002-9544-2279; Di Paolo, Gilbert ORCID: https://orcid.org/0000-0003-1032-1265; Brendel, Matthias ORCID: https://orcid.org/0000-0002-9247-2843 und Tahirovic, Sabina ORCID: https://orcid.org/0000-0003-4403-9559
(2024):
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
In: Science Translational Medicine, Bd. 16, Nr. 776, eadl4616
ORCID: https://orcid.org/0000-0002-5380-3152; Hummel, Selina ORCID: https://orcid.org/0009-0001-2902-6082; Zenatti, Valerio ORCID: https://orcid.org/0009-0007-2127-6267; Malara, Mariagiovanna ORCID: https://orcid.org/0000-0001-6417-9685; Tillmann, Yannik; Colombo, Alessio; Monasor, Laura Sebastian ORCID: https://orcid.org/0000-0001-7864-7400; Suh, Jung H. ORCID: https://orcid.org/0000-0001-8119-326X; Logan, Todd ORCID: https://orcid.org/0000-0003-2081-782X; Roth, Stefan ORCID: https://orcid.org/0000-0001-6823-2981; Paeger, Lars ORCID: https://orcid.org/0000-0001-8716-3483; Hoffelner, Patricia ORCID: https://orcid.org/0009-0009-9728-8162; Bludau, Oliver ORCID: https://orcid.org/0009-0005-9426-0325; Schmidt, Andree ORCID: https://orcid.org/0000-0002-8254-0777; Müller, Stephan A. ORCID: https://orcid.org/0000-0003-3414-307X; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Nuscher, Brigitte; Njavro, Jasenka Rudan; Prestel, Matthias; Bartos, Laura M. ORCID: https://orcid.org/0009-0007-6158-319X; Wind-Mark, Karin ORCID: https://orcid.org/0000-0002-5461-1873; Slemann, Luna; Hoermann, Leonie ORCID: https://orcid.org/0009-0006-9074-3474; Kunte, Sebastian T. ORCID: https://orcid.org/0009-0007-3543-5329; Gnörich, Johannes ORCID: https://orcid.org/0000-0003-1554-7765; Lindner, Simon ORCID: https://orcid.org/0009-0007-4379-4436; Simons, Mikael; Herms, Jochen; Paquet, Dominik ORCID: https://orcid.org/0000-0003-2065-1639; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575; Bartenstein, Peter ORCID: https://orcid.org/0009-0005-0734-4994; Franzmeier, Nicolai ORCID: https://orcid.org/0000-0001-9736-2283; Liesz, Arthur ORCID: https://orcid.org/0000-0002-9069-2594; Grosche, Antje ORCID: https://orcid.org/0000-0003-0338-7530; Bremova-Ertl, Tatiana ORCID: https://orcid.org/0000-0002-7397-045X; Catarino, Claudia ORCID: https://orcid.org/0000-0002-6528-7570; Beblo, Skadi; Bergner, Caroline; Schneider, Susanne A.; Strupp, Michael ORCID: https://orcid.org/0000-0002-9544-2279; Di Paolo, Gilbert ORCID: https://orcid.org/0000-0003-1032-1265; Brendel, Matthias ORCID: https://orcid.org/0000-0002-9247-2843 und Tahirovic, Sabina ORCID: https://orcid.org/0000-0003-4403-9559
(2024):
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
In: Science Translational Medicine, Bd. 16, Nr. 776, eadl4616
Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
[PDF, 1MB]
Siedlecki, Jakob ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank und Prokisch, Holger
(2022):
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
In: Brain, Bd. 145, Nr. 5: S. 1624-1631
[PDF, 848kB]
Metz, Guenther; Hasham, Shabir; Catarino, Claudia und Klopstock, Thomas
(2016):
Treatment of visual impairment in patients with Leber's Hereditary Optic Neuropathy (LHON) using Idebenone (Raxone®).
In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12
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