Klopstock, Thomas

2024

Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy. Cell Rep Med. 2024 Jan 17:101383. doi: 10.1016/j.xcrm.2023.101383. Epub ahead of print. PMID: 38272025.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain. 2024 Mar 13:awae057. doi:10.1093/brain/awae057. Epub ahead of print. PMID: 38478578.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Epub ahead of print. PMID: 38684900.
Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet J Rare Dis. 2024 Feb 13;19(1):62. doi: 10.1186/s13023-024-03023-1. PMID: 38347616; PMCID: PMC10863275.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. PMID: 39574155; PMCID: PMC11583740.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Epub ahead of print. PMID: 38576261.
Rooney JPK, Geoghegan G, O'Reilly F, Heverin M, Bose-O'Reilly S, Casale F, Chio A, Günther K, Schuster J, Klopstock T, Ludolph A, Hardiman O, Rakete S. Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Jun 3:1-9. doi: 10.1080/21678421.2024.2358805. Epub ahead of print. PMID: 38826044.
Smeitink J, van Es J, Bosman B, Janssen MCH, Klopstock T, Gorman G, Vissing J, Ruiterkamp G, Edgar CJ, Abbink EJ, van Maanen R, Pogoryelova O, Stendel C, Bischoff A, Karin I, Munshi M, Kümmel A, Burgert L, Verhaak C, Renkema H. Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation. Brain. 2024 Nov 6:awae277. doi: 10.1093/brain/awae277. Epub ahead of print. PMID: 39501914.
Traschütz A, Fleszar Z, Hengel H, Klockgether T, Erdlenbruch F, Falkenburger BH, Klopstock T, Öztop-Çakmak Ö, Pedroso JL, Santorelli FM, Schöls L; RFC1 Study Group, PREPARE Consortium; Synofzik M. FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change. Mov Disord. 2024 Mar 20. doi: 10.1002/mds.29788. Epub ahead of print. PMID: 38509638.
Vater M, Rost N, Eckstein G, Sauer S, Tontsch A, Erhardt A, Lucae S, Brückl T, Klopstock T, Sämann PG, Binder EB. Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure. Eur J Hum Genet. 2024 Nov 21. doi: 10.1038/s41431-024-01737-1. Epub ahead of print. PMID: 39572770.
Wiesenfarth M, Dorst J, Brenner D, Elmas Z, Parlak Ö, Uzelac Z, Kandler K, Mayer K, Weiland U, Herrmann C, Schuster J, Freischmidt A, Müller K, Siebert R, Bachhuber F, Simak T, Günther K, Fröhlich E, Knehr A, Regensburger M, German A, Petri S, Grosskreutz J, Klopstock T, Reilich P, Schöberl F, Hagenacker T, Weyen U, Günther R, Vidovic M, Jentsch M, Haarmeier T, Weydt P, Valkadinov I, Hesebeck-Brinckmann J, Conrad J, Weishaupt JH, Schumann P, Körtvélyessy P, Meyer T, Ruf WP, Witzel S, Senel M, Tumani H, Ludolph AC. Effects of tofersen treatment in patients with SOD1-ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access program. EClinicalMedicine. 2024 Feb 15;69:102495. doi: 10.1016/j.eclinm.2024.102495. PMID: 38384337; PMCID: PMC10878861.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial. Cell Rep Med. 2024 Feb 28:101437. doi: 10.1016/j.xcrm.2024.101437. Epub ahead of print. PMID: 38428428.

2023

Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A (2023). Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. Am J Hum Genet. 2023 Jun 6:S0002-9297(23)00166-0. doi: 10.1016/j.ajhg.2023.05.009. Epub ahead of print. PMID: 37301203.
Distelmaier F, Klopstock T (2023). Neuroimaging in mitochondrial disease. Handb Clin Neurol. 2023;194:173-185. doi: 10.1016/B978-0-12-821751-1.00016-6. PMID: 36813312.
Heinrich F, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Radelfahr F, Schönfelder E, Gardt P, Mohajer-Peseschkian T, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Schöffski O, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O (2023). Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany. J Neurol. 2023 Jun 25. doi: 10.1007/s00415-023-11811-1. Epub ahead of print. PMID: 37356024.
Iankova V, Sparber P, Rohani M, Dusek P, Büchner B, Karin I, Schneider SA, Gorriz JM, Kmiec T, Klopstock T (2023). Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration. Brain. 2023 Oct 13:awad357. doi: 10.1093/brain/awad357. Epub ahead of print. PMID: 37831662.
Karaa A, Klopstock T (2023). Clinical trials in mitochondrial diseases. Handb Clin Neurol. 2023;194:229-250. doi: 10.1016/B978-0-12-821751-1.00002-6. PMID: 36813315.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators (2023). Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. 2023 Jun 2:10.1212/WNL.0000000000207402. doi: 10.1212/WNL.0000000000207402. Epub ahead of print. PMID: 37268435.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T (2023). Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. J Neurol. 2023 Oct 13. doi: 10.1007/s00415-023-12017-1. Epub ahead of print. PMID: 37831128.
Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A, Schmid M, Synofzik M, Klockgether T (2023). Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. Mov Disord. 2023 Jan 25. doi: 10.1002/mds.29324. Epub ahead of print. PMID: 36695111.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group (2023). Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset. Ann Clin Transl Neurol. 2023 Aug 28. doi: 10.1002/acn3.51886. Epub ahead of print. PMID: 37641437.
Riemenschneider H, Simonetti F, Sheth U, Katona E, Roth S, Hutten S, Farny D, Michaelsen M, Nuscher B, Schmidt MK, Flatley A, Schepers A, Gruijs da Silva LA, Zhou Q, Klopstock T, Liesz A, Arzberger T, Herms J, Feederle R, Gendron TF, Dormann D, Edbauer D (2023). Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivo. Acta Neuropathol Commun. 2023 Jul 11;11(1):112. doi: 10.1186/s40478-023-01592-z. PMID: 37434215; PMCID: PMC10334564.
Schworm B, Siedlecki J, Catarino C, von Livonius B, Muth DR, Rudolph G, Havla J, Klopstock T, Priglinger C (2023). Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy. Eur J Neurol. 2023 May 9. doi: 10.1111/ene.15847. Epub ahead of print. PMID: 37158303.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M (2023). Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. Mov Disord. 2023 Apr 7. doi: 10.1002/mds.29397. Epub ahead of print. PMID: 37027459.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanagasi HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE consortium; Synofzik M (2023). Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients. Ann Neurol. 2023 May 27. doi: 10.1002/ana.26712. Epub ahead of print. PMID: 37243847.
Wiesenfarth M, Günther K, Müller K, Witzel S, Weiland U, Mayer K, Herrmann C, Brenner D, Schuster J, Freischmidt A, Lulé D, Meyer T, Regensburger M, Grehl T, Emmer A, Petri S, Großkreutz J, Rödiger A, Steinbach R, Klopstock T, Reilich P, Schöberl F, Wolf J, Hagenacker T, Weyen U, Zeller D, Ludolph AC, Dorst J (2023). Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain Commun. 2023 Mar 21;5(2):fcad087. doi: 10.1093/braincomms/fcad087. PMID: 37006326; PMCID: PMC10065188.
Zanuttigh E, Derderian K, Güra MA, Geerlof A, Di Meo I, Cavestro C, Hempfling S, Ortiz-Collazos S, Mauthe M, Kmieć T, Cammarota E, Panzeri MC, Klopstock T, Sattler M, Winkelmann J, Messias AC, Iuso A (2023). Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro. Pharmaceutics. 2023 Jan 12;15(1):267. doi: 10.3390/pharmaceutics15010267. PMID: 36678896; PMCID: PMC9862353.
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P. The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis. Brain. 2023 Dec 11:awad410. doi: 10.1093/brain/awad410. Epub ahead of print. PMID: 38079474.

2022

Alves CAPF, Sherbini O, D'Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, Carli D, Tartaglia M, Balci TB, Powell-Hamilton NN, Schrier Vergano SA, Reutter H, Hoefele J, Günthner R, Roeder ER, Littlejohn RO, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino CB, Mercimek-Andrews S, Denecke J, Lyons MJ, Klopstock T, Bhoj EJ, Bryant L, Vanderver A (2022). Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR Am J Neuroradiol. 2022 Jun 30. doi: 10.3174/ajnr.A7555. Epub ahead of print. PMID: 35772801.
Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmüller C, Boesch S, Klopstock T (2022). Mast Syndrome Outside the Amish Community: SPG21 in Europe. Front Neurol. 2022 Jan 17;12:799953. doi: 10.3389/fneur.2021.799953. PMID: 35111129; PMCID: PMC8801886.
Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group (2022). Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2022 Nov 30. doi: 10.1007/s40123-022-00611-x. Epub ahead of print. PMID: 36449262.
Cordts I, Önder D, Traschütz A, Kobeleva X, Karin I, Minnerop M, Koertvelyessy P, Biskup S, Forchhammer S, Binder J, Tzschach A, Meiss F, Schmidt A, Kreiß M, Cremer K, Mensah MA, Park J, Rautenberg M, Deininger N, Sturm M, Lingor P, Klopstock T, Weiler M, Marxreiter F, Synofzik M, Posch C, Sirokay J, Klockgether T, Haack TB, Deschauer M (2022). Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin. Mov Disord. 2022 Jun 14. doi: 10.1002/mds.29071. Epub ahead of print. PMID: 35699229.
Hohenfeld C, Terstiege U, Dogan I, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Fichera M, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Rauhut H, Schulz JB, Reetz K (2022). Prediction of the disease course in Friedreich ataxia. Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z. PMID: 36357508; PMCID: PMC9649725.
Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ (2022). Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Adv Genet (Hoboken). 2022 Mar;3(1):2100047. doi: 10.1002/ggn2.202100047. Epub 2021 Dec 19. PMID: 35317023; PMCID: PMC8936395.
Kolarova H, Tan J, Strom TM, Meitinger T, Wagner M, Klopstock T (2022). Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine. 2022 Feb 15;77:103869. doi: 10.1016/j.ebiom.2022.103869. Epub ahead of print. PMID: 35180557; PMCID: PMC8856992.
Schweizer U, Wirth EK, Klopstock T, Hölter SM, Becker L, Moskovitz J, Grune T, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Köhrle J, Schomburg L (2022). Seizures, ataxia and parvalbumin-expressing interneurons respond to selenium supply in Selenop-deficient mice. Redox Biol. 2022 Sep 24;57:102490. doi: 10.1016/j.redox.2022.102490. Epub ahead of print. PMID: 36182809; PMCID: PMC9526222.
Silva M, Llòria X, Klopstock T (2022). Kaplan-Meier Statistics to Estimate Treatment Success: Response. J Neuroophthalmol. 2022 May 24. doi: 10.1097/WNO.0000000000001628. Epub ahead of print. PMID: 36166804.
Stenton SL, Tesarova M, Sheremet NL, Catarino C, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H (2022). DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022 Feb 10:awac052. doi: 10.1093/brain/awac052. Epub ahead of print. PMID: 35148383.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J (2022). De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Mov Disord. 2022 Feb 12. doi: 10.1002/mds.28959. Epub ahead of print. PMID: 35150594.
Vignal-ClermoḤ C, Yu-Wai-Man P, Newman NJ, Carelli V, Moster ML, Biousse V, Subramanian PS, Wang AG, Donahue SP, Leroy BP, Sadun AA, Klopstock T, Sergott RC, Fernández GR, Chwalisz BK, Banik R, Taiel M, Roux M, Sahel JA; LHON Study Group (2022). Safety of lenadogene nolparvovec gene therapy over 5 years in 189 patients with Leber hereditary optic neuropathy. Am J Ophthalmol. 2022 Dec 7:S0002-9394(22)00464-0. doi: 10.1016/j.ajo.2022.11.026. Epub ahead of print. PMID: 36496192.
Werning M, Dobretzberger V, Brenner M, Müllner EW, Mlynek G, Djinovic-Carugo K, Baron DM, Fragner L, Bischoff AT, Büchner B, Klopstock T, Weckwerth W, Salzer U (2022). A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2. Biomolecules. 2022 Feb 18;12(2):325. doi: 10.3390/biom12020325. PMID: 35204826; PMCID: PMC8869601.
Wise RM, Wagener A, Fietzek UM, Klopstock T, Mosharov EV, Zucca FA, Sulzer D, Zecca L, Burbulla LF (2022). Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders. Neurobiol Dis. 2022 Nov 7;175:105920. doi: 10.1016/j.nbd.2022.105920. Epub ahead of print. PMID: 36351559.
Xie K, Fuchs H, Scifo E, Liu D, Aziz A, Aguilar-Pimentel JA, Amarie OV, Becker L, da Silva-Buttkus P, Calzada-Wack J, Cho YL, Deng Y, Edwards AC, Garrett L, Georgopoulou C, Gerlini R, Hölter SM, Klein-Rodewald T, Kramer M, Leuchtenberger S, Lountzi D, Mayer-Kuckuk P, Nover LL, Oestereicher MA, Overkott C, Pearson BL, Rathkolb B, Rozman J, Russ J, Schaaf K, Spielmann N, Sanz-Moreno A, Stoeger C, Treise I, Bano D, Busch DH, Graw J, Klingenspor M, Klopstock T, Mock BA, Salomoni P, Schmidt-Weber C, Weiergräber M, Wolf E, Wurst W, Gailus-Durner V, Breteler MMB, Hrabě de Angelis M, Ehninger D (2022). Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice. Nat Commun. 2022 Nov 11;13(1):6830. doi: 10.1038/s41467-022-34515-y. PMID: 36369285; PMCID: PMC9652467.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. PMID: 35379322; PMCID: PMC8981716.
Zibold J, von Livonius B, Kolarova H, Rudolph G, Priglinger CS, Klopstock T, Catarino CB (2022). Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study. Orphanet J Rare Dis. 2022 Aug 9;17(1):310. doi: 10.1186/s13023-022-02453-z. PMID: 35945620; PMCID: PMC9361590.

2021

Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA (2021). Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy. The RESTORE Study. J Neuroophthalmol. 2021 Sep 1;41(3):309-315. doi: 10.1097/WNO.0000000000001367. PMID: 34415265; PMCID: PMC8366761.
Elstner M, Olszewski K, Prokisch H, Klopstock T, Murgia M (2021). Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. Int J Mol Sci. 2021 Oct 14;22(20):11080. doi: 10.3390/ijms222011080. PMID: 34681740; PMCID: PMC8537949.
Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M; ALCAT Study Group (2021). Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA Netw Open. 2021 Dec 1;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841. PMID: 34905009.
Iankova V, Karin I, Klopstock T, Schneider SA (2021). Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021 Apr 15;12:629414. doi: 10.3389/fneur.2021.629414. PMID: 33935938; PMCID: PMC8082061.
Jüschke C, Klopstock T, Catarino CB, Owczarek-Lipska M, Wissinger B, Neidhardt J (2021). Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption. Mol Ther Nucleic Acids. 2021 Oct 21;26:1186-1197. doi: 10.1016/j.omtn.2021.10.019. PMID: 34853716; PMCID: PMC8604756.
Karin I, Büchner B, Gauzy F, Klucken A, Klopstock T (2021). Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021 Feb 22;12:642228. doi: 10.3389/fneur.2021.642228. PMID: 33692746; PMCID: PMC7937633.
Moster ML, Sergott RC, Newman NJ, Yu-Wai-Man P, Carelli V, Bryan MS, Smits G, Biousse V, Vignal-Clermont C, Klopstock T, Sadun AA, DeBusk AA, Carbonelli M, Hage R, Priglinger S, Karanjia R, Blouin L, Taiel M, Katz B, Sahel JA; LHON study group (2021). Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies. J Neuroophthalmol. 2021 Jul 23. doi: 10.1097/WNO.0000000000001316. Epub ahead of print. PMID: 34310464.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group (2021). Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset. Ophthalmology. 2021 Jan 12:S0161-6420(20)31187-8. doi: 10.1016/j.ophtha.2020.12.012. Epub ahead of print. PMID: 33451738.
Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA (2021). 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. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. PMID: 34108929; PMCID: PMC8181419.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM (2021). Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. PMID: 34146515.
Peseschkian T, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Büchner B, Weiland U, Schönfelder E, Heinrich F, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O (2021). A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany. Brain Sci. 2021 Mar 14;11(3):372. doi: 10.3390/brainsci11030372. PMID: 33799476; PMCID: PMC7998410.
Rabenstein A, Catarino CB, Rampeltshammer V, Schindler D, Gallenmüller C, Priglinger C, Pogarell O, Rüther T, Klopstock T (2021). Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study. Orphanet J Rare Dis. 2021 Mar 11;16(1):127. doi: 10.1186/s13023-021-01724-5. PMID: 33706792; PMCID: PMC7953635.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group (2021). Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021 Mar 23:S1474-4422(21)00027-2. doi: 10.1016/S1474-4422(21)00027-2. Epub ahead of print. PMID: 33770527.
Reinert MC, Pacheu-Grau D, Catarino CB, Klopstock T, Ohlenbusch A, Schittkowski M, Wilichowski E, Rehling P, Brockmann K (2021). Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy. Orphanet J Rare Dis. 2021 Feb 4;16(1):64. doi: 10.1186/s13023-021-01690-y. PMID: 33541401; PMCID: PMC7860214.
Schischlevskij P, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Stendel C, Müschen LH, Osmanovic A, Binz C, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O (2021). Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers' Lives. Brain Sci. 2021 Jun 4;11(6):748. doi: 10.3390/brainsci11060748. PMID: 34200087; PMCID: PMC8228206.
Stenton SL, Sheremet NL, Catarino CB, Andreeva N, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov IO, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova T, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna T, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova E, Zhorzholadze N, Rozet JM, Carelli V, Tsygankova P, Klopstock T, Wittig I, Prokisch H (2021). Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 Jan 19:138267. doi: 10.1172/JCI138267. Epub ahead of print. PMID: 33465056.
Thakur N, Klopstock T, Jackowski S, Kuscer E, Tricta F, Videnovic A, Jinnah HA (2021). Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. 2021 May 18. doi: 10.1002/mds.28642. Epub ahead of print. PMID: 34002881.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium, Synofzik M (2021). The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. PMID: 34248822; PMCID: PMC8267795.

2020

Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020). Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23993. [Epub ahead of print]
Blechner C, Becker L, Fuchs H, Rathkolb B, Prehn C, Adler T, Calzada-Wack J, Garrett L, Gailus-Durner V, Morellini F, Conrad S, Hölter SM, Wolf E, Klopstock T, Adamski J, Busch D, de Angelis MH, Schmeisser MJ, Windhorst S (2020). Physiological relevance of the neuronal isoform of inositol-1,4,5-trisphosphate 3-kinases in mice. Neurosci Lett. 2020;735:135206. doi:10.1016/j.neulet.2020.135206 [published online ahead of print, 2020 Jun 25]
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study, Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ (2020). Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. PMID: 33268356.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T (2020). Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy. J Neuroophthalmol. 2020 Sep 22. doi: 10.1097/WNO.0000000000001023. Epub ahead of print. PMID: 32991388.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB (2020). Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020;S0002-9297(20)30203-2. doi:10.1016/j.ajhg.2020.06.015 [published online ahead of print, 2020 Jul 19]
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F (2020). Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. 2020 Nov 16. doi: 10.1002/mds.28392. Epub ahead of print. PMID: 33200489.
Kollmus H, Fuchs H, Lengger C, Haselimashhadi H, Bogue MA, Östereicher MA, Horsch M, Adler T, Aguilar-Pimentel JA, Amarie OV, Becker L, Beckers J, Calzada-Wack J, Garrett L, Hans W, Hölter SM, Klein-Rodewald T, Maier H, Mayer-Kuckuk P, Miller G, Moreth K, Neff F, Rathkolb B, Rácz I, Rozman J, Spielmann N, Treise I, Busch D, Graw J, Klopstock T, Wolf E, Wurst W, Yildirim AÖ, Mason J, Torres A; Mouse Phenome Database Team, Balling R, Mehaan T, Gailus-Durner V, Schughart K, Hrabě de Angelis M (2020). A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes. Mamm Genome. 2020 Feb 14. doi: 10.1007/s00335-020-09827-3. [Epub ahead of print]
Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M (2020). The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis. 2020;10.1002/jimd.12312. doi:10.1002/jimd.12312 [published online ahead of print, 2020 Sep 10]
Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T (2020). LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum. Neurol Genet. 2020;6(5):e500. Published 2020 Aug 4. doi:10.1212/NXG.0000000000000500
Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM (2020). Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.
Radelfahr F, Riedhammer KM, Keidel LF, Gramer G, Meitinger T, Klopstock T, Wagner M (2020). Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. Neurol Genet. 2020 Oct 13;6(6):e525. doi: 10.1212/NXG.0000000000000525. PMID: 33134520; PMCID: PMC7577526.
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group (2020). Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.
Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M (2020). 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. Int J Mol Sci. 2020;21(11):E3810. Published 2020 May 27. doi:10.3390/ijms21113810
Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T (2020). Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine. 2020 Apr 16;54:102730. doi: 10.1016/j.ebiom.2020.102730. [Epub ahead of print]
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M (2020). Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients. Ann Neurol. 2020 Apr 26. doi: 10.1002/ana.25751. [Epub ahead of print]
Werning M, Müllner EW, Mlynek G, Dobretzberger V, Djinovic-Carugo K, Baron DM, Prokisch H, Büchner B, Klopstock T, Salzer U (2020). PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Ann Clin Transl Neurol. 2020;10.1002/acn3.51127. doi:10.1002/acn3.51127 [published online ahead of print, 2020 Jul 23]
Yu-Wai-Man P, Newman NJ, Carelli V, Moster ML, Biousse V, Sadun AA, Klopstock T, Vignal-Clermont C, Sergott RC, Rudolph G, La Morgia C, Karanjia R, Taiel M, Blouin L, Burguière P, Smits G, Chevalier C, Masonson H, Salermo Y, Katz B, Picaud S, Calkins DJ, Sahel JA. Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy. Sci Transl Med. 2020 Dec 9;12(573):eaaz7423. doi: 10.1126/scitranslmed.aaz7423. PMID: 33298565.

2019

Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N (2019). Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med. 2019 Jul 24;8(8). pii: E1096. doi: 10.3390/jcm8081096.
Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET (2019). Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. Brain. 2019 Oct 15. pii: awz306. doi: 10.1093/brain/awz306. [Epub ahead of print]
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A (2019). Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology. 2019 May 8. pii: 10.1212/WNL.0000000000007606. doi: 10.1212/WNL.0000000000007606. [Epub ahead of print]
Dorst J, Chen L, Rosenbohm A, Dreyhaupt J, Hübers A, Schuster J, Weishaupt JH, Kassubek J, Gess B, Meyer T, Weyen U, Hermann A, Winkler J, Grehl T, Hagenacker T, Lingor P, Koch JC, Sperfeld A, Petri S, Großkreutz J, Metelmann M, Wolf J, Winkler AS, Klopstock T, Boentert M, Johannesen S, Storch A, Schrank B, Zeller D, Liu XL, Tang L, Fan DS, Ludolph AC (2019). Prognostic factors in ALS: a comparison between Germany and China. J Neurol. 2019 Mar 28. doi: 10.1007/s00415-019-09290-4. [Epub ahead of print]
Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson SD, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai VI, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider SA (2019). Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 2019 Sep 13. doi: 10.1002/mds.27827. [Epub ahead of print]
Klopstock T, Escolar ML, Marshall RD, Perez-Dueñas B, Tuller S, Videnovic A, Greblikas F (2019). The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration. Clin Trials. 2019 May 6:1740774519845673. doi: 10.1177/1740774519845673. [Epub ahead of print]
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E (2019). Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.
Kolarova H, Catarino CB, Priglinger C, Klopstock T (2019). Charles Bonnet syndrome in Leber's hereditary optic neuropathy. J Neurol. 2019 Jan 28. doi: 10.1007/s00415-019-09205-3. [Epub ahead of print]
Lucienne M, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, da Silva-Buttkus P, Garrett L, Hölter SM, Mayer-Kuckuk P, Rathkolb B, Rozman J, Spielmann N, Treise I, Busch DH, Klopstock T, Schmidt-Weber C, Wolf E, Wurst W, Forny M, Mathis D, Fingerhut R, Froese DS, Gailus-Durner V, Fuchs H, de Angelis MH, Baumgartner MR (2019). In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. Biochim Biophys Acta Mol Basis Dis. 2019 Nov 23:165622. doi: 10.1016/j.bbadis.2019.165622. [Epub ahead of print]
Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR (2019). Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration. Orphanet J Rare Dis. 2019 Jul 12;14(1):174. doi: 10.1186/s13023-019-1142-1.
Murgia M, Tan J, Geyer PE, Doll S, Mann M, Klopstock T (2019). Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy. Cell Rep. 2019 Dec 17;29(12):3825-3834.e4. doi: 10.1016/j.celrep.2019.11.055.
Priglinger C, Klopstock T, Rudolph G, Priglinger SG (2019). [Article in German; Abstract available in German from the publisher] [Leber's Hereditary Optic Neuropathy]. Klin Monbl Augenheilkd. 2019 Oct 22. doi: 10.1055/a-0972-1552. [Epub ahead of print]
Reetz K, Hilgers RD, Isfort S, Dohmen M, Didszun C, Fedosov K, Kistermann J, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Klockgether T, Pandolfo M, Korinthenberg R, Lavin P, Molenberghs G, Libri V, Giunti P, Festenstein R, Schulz JB; EFACTS or NICOFA study group (2019). Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA). Neurol Res Pract. 2019 Oct 15;1:33. doi: 10.1186/s42466-019-0038-9. PMID: 33324899; PMCID: PMC7650055.
Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-McGreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, de Angelis MH, Schrewe H, Yuneva M, Ralser M (2019). Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency. J Inherit Metab Dis. 2019 May 20. doi: 10.1002/jimd.12105. [Epub ahead of print]
Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ (2019). Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1.
Stendel C, Wagner M, Rudolph G, Klopstock T (2019). Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review. Neuropediatrics. 2019 Jul 24. doi: 10.1055/s-0039-1693150. [Epub ahead of print]
Vetrivel S, Tiso N, Kügler A, Irmler M, Horsch M, Beckers J, Hladik D, Giesert F, Gailus-Durner V, Fuchs H, Sabrautzki S, Adler T, Treise I, Busch DH, Aguilar-Pimentel A, Ollert M, Götz A, Amarie OV, Stoeger T, Schulz H, Becker L, Klopstock T, Schrewe A, Spielmann N, Bekeredjian R, Garrett L, Hölter SM, Zimprich A, Wurst W, Mayer-Kuckuk P, Hans W, Rozman J, Klingenspor M, Neff F, da Silva-Buttkus P, Calzada-Wack J, Rácz I, Zimmer A, Rathkolb B, Wolf E, Prehn C, Adamski J, Östereicher M, Miller G, Steinkamp R, Lengger C, Maier H, Stoeger C, Leuchtenberger S, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Hrabě de Angelis M, Graw J (2019). Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Exp Eye Res. 2019 Apr 13. pii: S0014-4835(18)30702-4. doi: 10.1016/j.exer.2019.03.024. [Epub ahead of print]

2018

Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW (2018). A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis. 2018 Dec 14. pii: S0925-4439(18)30497-6. doi: 10.1016/j.bbadis.2018.12.011. [Epub ahead of print]
Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T. Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19. PMID: 29260356.
Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T. Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion. 2018 Sep;42:1-10. doi: 10.1016/j.mito.2017.10.003. Epub 2017 Oct 18. PMID: 29054473.
Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10. PMID: 30097477.
Schnerwitzki D, Perry S, Ivanova A, Caixeta FV, Cramer P, Günther S, Weber K, Tafreshiha A, Becker L, Vargas Panesso IL, Klopstock T, Hrabe de Angelis M, Schmidt M, Kullander K, Englert C. Neuron-specific inactivation of Wt1 alters locomotion in mice and changes interneuron composition in the spinal cord. Life Sci Alliance. 2018 Aug 16;1(4):e201800106. doi: 10.26508/lsa.201800106. PMID: 30456369; PMCID: PMC6238623.
Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Müller Vom Hagen J, Klockgether T, Bürk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group. Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26. PMID: 29279305.

2017

Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T. 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. Mitochondrion. 2017 Sep;36:15-20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6. PMID: 27721048.
Feil K, Adrion C, Teufel J, Bösch S, Claassen J, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Stendel C, Uslar E, van de Warrenburg B, Berger I, Naumann I, Bayer O, Müller HH, Mansmann U, Strupp M. Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. BMC Neurol. 2017 Jan 10;17(1):7. doi: 10.1186/s12883-016-0786-x. PMID: 28068987; PMCID: PMC5223431.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9. PMID: 28794257.
Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ. Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27. PMID: 28034613.
Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T. Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4. PMID: 28054128.
Kumar S, Rathkolb B, Sabrautzki S, Krebs S, Kemter E, Becker L, Beckers J, Bekeredjian R, Brommage R, Calzada-Wack J, Garrett L, Hölter SM, Horsch M, Klingenspor M, Klopstock T, Moreth K, Neff F, Rozman J, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Wolf E, Aigner B. Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice. J Biomed Sci. 2017 Aug 17;24(1):57. doi: 10.1186/s12929-017-0365-5. PMID: 28818080; PMCID: PMC5559776.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2018 Mar 1;141(3):e21. doi: 10.1093/brain/awx329. PMID: 28459997; PMCID: PMC6402316.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. PMID: 29126212; PMCID: PMC5841036.
Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. PMID: 28279569.
Stendel C, Walter MC, Klopstock T. Risikogene bei Myopathien und mitochondrialen Erkrankungen [Risk genes in myopathies and mitochondrial diseases]. Nervenarzt. 2017 Jul;88(7):736-743. German. doi: 10.1007/s00115-017-0350-y. PMID: 28573363.

2016

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. PMID: 26995359.
Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schöls L, Klockgether T, Bürk K, Rai M, Pandolfo M, Schulz JB; EFACTS Study Group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3. Erratum in: Lancet Neurol. 2017 Dec;16(12):954. doi: 10.1016/S1474-4422(17)30368-X. PMID: 27839651.
Sabrautzki S, Sandholzer MA, Lorenz-Depiereux B, Brommage R, Przemeck G, Vargas Panesso IL, Vernaleken A, Garrett L, Baron K, Yildirim AO, Rozman J, Rathkolb B, Gau C, Hans W, Hoelter SM, Marschall S, Stoeger C, Becker L, Fuchs H, Gailus-Durner V, Klingenspor M, Klopstock T, Lengger C, Stefanie L, Wolf E, Strom TM, Wurst W, de Angelis MH. Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. Mamm Genome. 2016 Dec;27(11-12):587-598. doi: 10.1007/s00335-016-9664-5. Epub 2016 Sep 26. PMID: 27671791; PMCID: PMC5110705.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11. PMID: 26856398.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. PMID: 27086870; PMCID: PMC6363274.
Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF. Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain. 2016 Mar;139(Pt 3):e18. doi: 10.1093/brain/awv340. Epub 2015 Dec 10. PMID: 26657167; PMCID: PMC5839597.

2014

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H(2014). Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy. Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.
Kraus P, V S, Yu HB, Xing X, Lim SL, Adler T, Pimentel JA, Becker L, Bohla A, Garrett L, Hans W, Hölter SM, Janas E, Moreth K, Prehn C, Puk O, Rathkolb B, Rozman J, Adamski J, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Neff F, Ollert M, Stoeger T, Yildrim AÖ, Eickelberg O, Wolf E, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Lufkin T, Stanton LW (2014). Pleiotropic functions for transcription factor zscan10. PLoS One. 2014 Aug 11;9(8):e104568. doi: 10.1371/journal.pone.0104568. eCollection 2014
Mishra A, Traut MH, Becker L, Klopstock T, Stein V, Klein R (2014). Genetic Evidence for the Adhesion Protein IgSF9/Dasm1 to Regulate Inhibitory Synapse Development Independent of its Intracellular Domain. J Neurosci. 2014 Mar 19;34(12):4187-99. doi: 10.1523/JNEUROSCI.3671-13.2014.
Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C. Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. Neurobiol Aging. 2014 May;35(5):1212.e1-5. doi: 10.1016/j.neurobiolaging.2013.10.092. Epub 2013 Oct 29. PMID: 24300238.
Zumbrennen-Bullough KB, Becker L, Garrett L, Hölter SM, Calzada-Wack J, Mossbrugger I, Quintanilla-Fend L, Racz I, Rathkolb B, Klopstock T, Wurst W, Zimmer A, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Romney SJ, Leibold EA(2014). Abnormal brain iron metabolism in irp2 deficient mice is associated with mild neurological and behavioral impairments. PLoS One. 2014 Jun 4;9(6):e98072. doi: 10.1371/journal.pone.0098072. eCollection 2014

Klopstock, Thomas

Teilnehmende Universitäten

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