Neuropathology of the blood―brain barrier and pharmaco-resistance in human epilepsy
LIU, Joan Y. W, THORN, Maria, CATARINO, Claudia B, MARTINIAN, Lillian, FIGARELLA-BRANGER, Dominique, BARTOLOMEI, Fabrice, KOEPP, Matthias, SISODIYA, Sanjay M
Published in Brain (London, England : 1878) (01.10.2012)
Published in Brain (London, England : 1878) (01.10.2012)
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Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
Zibold, Julia, von Livonius, Bettina, Kolarova, Hana, Rudolph, Günter, Priglinger, Claudia S, Klopstock, Thomas, Catarino, Claudia B
Published in Orphanet journal of rare diseases (09.08.2022)
Published in Orphanet journal of rare diseases (09.08.2022)
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Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Published in Molecular therapy. Nucleic acids (03.12.2021)
Published in Molecular therapy. Nucleic acids (03.12.2021)
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Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
Rabenstein, Andrea, Catarino, Claudia B, Rampeltshammer, Verena, Schindler, David, Gallenmüller, Constanze, Priglinger, Claudia, Pogarell, Oliver, Rüther, Tobias, Klopstock, Thomas
Published in Orphanet journal of rare diseases (11.03.2021)
Published in Orphanet journal of rare diseases (11.03.2021)
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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B, Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
Published in Orphanet journal of rare diseases (04.02.2021)
Published in Orphanet journal of rare diseases (04.02.2021)
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Lateralization of cortical negative motor areas
Borggraefe, Ingo, Catarino, Claudia B., Rémi, Jan, Vollmar, Christian, Peraud, Aurelia, Winkler, Peter A., Noachtar, Soheyl
Published in Clinical neurophysiology (01.10.2016)
Published in Clinical neurophysiology (01.10.2016)
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Journal Article
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy
Dejanovic, Borislav, Lal, Dennis, Catarino, Claudia B, Arjune, Sita, Belaidi, Abdel A, Trucks, Holger, Vollmar, Christian, Surges, Rainer, Kunz, Wolfram S, Motameny, Susanne, Altmüller, Janine, Köhler, Anna, Neubauer, Bernd A, EPICURE Consortium, Nürnberg, Peter, Noachtar, Soheyl, Schwarz, Günter, Sander, Thomas
Published in Neurobiology of disease (01.07.2014)
Published in Neurobiology of disease (01.07.2014)
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CYP2C91B Promoter Polymorphisms, in Linkage with CYP2C192, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose
Chaudhry, Amarjit S, Urban, Thomas J, Lamba, Jatinder K, Birnbaum, Angela K, Remmel, Rory P, Subramanian, Murali, Strom, Stephen, You, Joyce H, Kasperaviciute, Dalia, Catarino, Claudia B, Radtke, Rodney A, Sisodiya, Sanjay M, Goldstein, David B, Schuetz, Erin G
Published in The Journal of pharmacology and experimental therapeutics (01.02.2010)
Published in The Journal of pharmacology and experimental therapeutics (01.02.2010)
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Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions
Kasperavičiūtė, Dalia, Catarino, Claudia B, Chinthapalli, Krishna, Clayton, Lisa M S, Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A, Lench, Nicholas, Koltzenburg, Martin, Duncan, John S, Hammond, Peter, Hennekam, Raoul C M, Land, John M, Sisodiya, Sanjay M
Published in PloS one (17.08.2011)
Published in PloS one (17.08.2011)
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Journal Article
Charles Bonnet syndrome in Leber’s hereditary optic neuropathy
Kolarova, Hana, Catarino, Claudia B., Priglinger, Claudia, Klopstock, Thomas
Published in Journal of neurology (01.03.2019)
Published in Journal of neurology (01.03.2019)
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Journal Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia B, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
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Journal Article
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy
Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
Published in Journal of neuro-ophthalmology (01.12.2020)
Published in Journal of neuro-ophthalmology (01.12.2020)
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Journal Article
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy—Response to Dr. Finsterer's Letter
Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Landau, Klara, Newman, Nancy J., Votruba, Marcela, Rudolph, Günther, Klopstock, Thomas
Published in Journal of neuro-ophthalmology (01.09.2023)
Published in Journal of neuro-ophthalmology (01.09.2023)
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Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study
Thom, Maria, Liu, Joan Y.W., Thompson, Pam, Phadke, Rahul, Narkiewicz, Marta, Martinian, Lillian, Marsdon, Derek, Koepp, Matthias, Caboclo, Luis, Catarino, Claudia B., Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2011)
Published in Brain (London, England : 1878) (01.10.2011)
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Journal Article
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA
Catarino, Claudia B, Ahting, Uwe, Gusic, Mirjana, Iuso, Arcangela, Repp, Birgit, Peters, Katrin, Biskup, Saskia, von Livonius, Bettina, Prokisch, Holger, Klopstock, Thomas
Published in Mitochondrion (01.09.2017)
Published in Mitochondrion (01.09.2017)
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Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient
Karin, Ivan, Borggraefe, Ingo, Catarino, Claudia B., Kuhm, Christoph, Hoertnagel, Konstanze, Biskup, Saskia, Opladen, Thomas, Blau, Nenad, Heinen, Florian, Klopstock, Thomas
Published in Journal of neurology (01.03.2017)
Published in Journal of neurology (01.03.2017)
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Journal Article
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2011)
Published in Brain (London, England : 1878) (01.10.2011)
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Journal Article
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment
Catarino, Claudia B., Vollmar, Christian, Küpper, Clemens, Seelos, Klaus, Gallenmüller, Constanze, Bartkiewicz, Joanna, Biskup, Saskia, Hörtnagel, Konstanze, Klopstock, Thomas
Published in Journal of neurology (01.02.2018)
Published in Journal of neurology (01.02.2018)
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