Onset features and time to diagnosis in Friedreich's Ataxia
Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B, Boesch, Sylvia
Published in Orphanet journal of rare diseases (03.08.2020)
Published in Orphanet journal of rare diseases (03.08.2020)
Get full text
Journal Article
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)
Get full text
Journal Article
Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death
Elstner, Matthias, Morris, Christopher M., Heim, Katharina, Bender, Andreas, Mehta, Divya, Jaros, Evelyn, Klopstock, Thomas, Meitinger, Thomas, Turnbull, Douglass M., Prokisch, Holger
Published in Acta neuropathologica (01.07.2011)
Published in Acta neuropathologica (01.07.2011)
Get full text
Journal Article
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
Stendel, Claudia, D'Adamo, Maria Cristina, Wiessner, Manuela, Dusl, Marina, Cenciarini, Marta, Belia, Silvia, Nematian-Ardestani, Ehsan, Bauer, Peter, Senderek, Jan, Klopstock, Thomas, Pessia, Mauro
Published in International journal of molecular sciences (27.05.2020)
Published in International journal of molecular sciences (27.05.2020)
Get full text
Journal Article
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthis, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M, Boesch, Sylvia, Eigentler, Andreas, van de Warrenburg, Bart, van Gaalen, Judith, Kamm, Christoph, Dudesek, Ales, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thomas, Neuhofer, Christiane, Ganos, Christos, Filla, Alessandro, Bauer, Peter, Tezenas du Montcel, Sophie, Klockgether, Thomas
Published in Neurology (05.09.2017)
Published in Neurology (05.09.2017)
Get more information
Journal Article
Mitochondrial Dysfunction and Decrease in Body Weight of a Transgenic Knock-in Mouse Model for TDP-43
Stribl, Carola, Samara, Aladin, Trümbach, Dietrich, Peis, Regina, Neumann, Manuela, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabě de Angelis, Martin, Rathkolb, Birgit, Wolf, Eckhard, Beckers, Johannes, Horsch, Marion, Neff, Frauke, Kremmer, Elisabeth, Koob, Sebastian, Reichert, Andreas S., Hans, Wolfgang, Rozman, Jan, Klingenspor, Martin, Aichler, Michaela, Walch, Axel Karl, Becker, Lore, Klopstock, Thomas, Glasl, Lisa, Hölter, Sabine M., Wurst, Wolfgang, Floss, Thomas
Published in The Journal of biological chemistry (11.04.2014)
Published in The Journal of biological chemistry (11.04.2014)
Get full text
Journal Article
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)
Get full text
Journal Article
Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)
Karin, Ivan, Büchner, Boriana, Gauzy, Florence, Klucken, Angelika, Klopstock, Thomas
Published in Frontiers in neurology (22.02.2021)
Published in Frontiers in neurology (22.02.2021)
Get full text
Journal Article
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)
Get full text
Journal Article
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
Biousse, Valérie, Newman, Nancy J., Yu-Wai-Man, Patrick, Carelli, Valerio, Moster, Mark L., Vignal-Clermont, Catherine, Klopstock, Thomas, Sadun, Alfredo A., Sergott, Robert C., Hage, Rabih, Esposti, Simona, La Morgia, Chiara, Priglinger, Claudia, Karanja, Rustum, Blouin, Laure, Taiel, Magali, Sahel, José-Alain
Published in Journal of neuro-ophthalmology (01.09.2021)
Published in Journal of neuro-ophthalmology (01.09.2021)
Get full text
Journal Article
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Published in EBioMedicine (01.04.2020)
Published in EBioMedicine (01.04.2020)
Get full text
Journal Article
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey
Klopstock, Thomas, Mercimek-Andrews, Saadet, Jurecka, Agnieszka, Wood, Patricia, Cwyl, Maciej, Klucken, Angelika, López, Antonio, Scalise, Roberta, Valle, Andrea, Mollet, Fatemeh, Perez-Duenas, Belen, Skowronska, Marta, Chroscinska-Krawczyk, Magdalena, Escolar, Maria Luisa, Wade, Anna, Rintell, David
Published in Orphanet journal of rare diseases (31.08.2023)
Published in Orphanet journal of rare diseases (31.08.2023)
Get full text
Journal Article
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison
Newman, Nancy J, Yu-Wai-Man, Patrick, Carelli, Valerio, Biousse, Valerie, Moster, Mark L, Vignal-Clermont, Catherine, Sergott, Robert C, Klopstock, Thomas, Sadun, Alfredo A, Girmens, Jean-François, La Morgia, Chiara, DeBusk, Adam A, Jurkute, Neringa, Priglinger, Claudia, Karanjia, Rustum, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain
Published in Frontiers in neurology (24.05.2021)
Published in Frontiers in neurology (24.05.2021)
Get full text
Journal Article
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)
Get full text
Journal Article
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
Nabbout, Rima, Zanello, Galliano, Baker, Dixie, Black, Lora, Brambilla, Isabella, Buske, Orion J, Conklin, Laurie S, Davies, Elin Haf, Julkowska, Daria, Kim, Yeonju, Klopstock, Thomas, Nakamura, Harumasa, Nielsen, Kim G, Pariser, Anne R, Pastor, Jose Carlos, Scarpa, Maurizio, Smith, Maureen, Taruscio, Domenica, Groft, Stephen
Published in Orphanet journal of rare diseases (09.05.2023)
Published in Orphanet journal of rare diseases (09.05.2023)
Get full text
Journal Article
Prediction of the disease course in Friedreich ataxia
Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Rauhut, Holger, Schulz, Jörg B., Reetz, Kathrin
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
Get full text
Journal Article
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J
Published in Orphanet journal of rare diseases (21.01.2019)
Published in Orphanet journal of rare diseases (21.01.2019)
Get full text
Journal Article
Seizures, ataxia and parvalbumin-expressing interneurons respond to selenium supply in Selenop-deficient mice
Schweizer, Ulrich, Wirth, Eva K., Klopstock, Thomas, Hölter, Sabine M., Becker, Lore, Moskovitz, Jackob, Grune, Tilman, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Köhrle, Josef, Schomburg, Lutz
Published in Redox biology (01.11.2022)
Published in Redox biology (01.11.2022)
Get full text
Journal Article
Consensus-based statements for the management of mitochondrial stroke-like episodes
Ng, Yi Shiau, Bindoff, Laurence A, Gorman, Gráinne S, Horvath, Rita, Klopstock, Thomas, Mancuso, Michelangelo, Martikainen, Mika H, Mcfarland, Robert, Nesbitt, Victoria, Pitceathly, Robert D S, Schaefer, Andrew M, Turnbull, Doug M
Published in Wellcome open research (2019)
Published in Wellcome open research (2019)
Get full text
Journal Article