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Page 1
[Mitochondrial diseases].
Radelfahr F, Klopstock T. Radelfahr F, et al. Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Nervenarzt. 2019. PMID: 30643957 Review. German.
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
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. Heinrich F, et al. Among authors: radelfahr f. J Neurol. 2023 Oct;270(10):4922-4938. doi: 10.1007/s00415-023-11811-1. Epub 2023 Jun 25. J Neurol. 2023. PMID: 37356024 Free PMC article.
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
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. Porcu L, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 Free PMC article.
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
Höflinger P, Hauser S, Yutuc E, Hengel H, Griffiths L, Radelfahr F, Howell OW, Wang Y, Connor SL, Duell PB, DeBarber AE, Martus P, Lütjohann D, Griffiths WJ, Schöls L. Höflinger P, et al. Among authors: radelfahr f. J Lipid Res. 2021;62:100078. doi: 10.1016/j.jlr.2021.100078. Epub 2021 Apr 20. J Lipid Res. 2021. PMID: 33891937 Free PMC article.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
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. Reetz K, et al. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23. Lancet Neurol. 2021. PMID: 33770527
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
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. Husain RA, et al. Among authors: radelfahr f. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
Intrathecal anti-CD20 efficiently depletes meningeal B cells in CNS autoimmunity.
Lehmann-Horn K, Kinzel S, Feldmann L, Radelfahr F, Hemmer B, Traffehn S, Bernard CC, Stadelmann C, Brück W, Weber MS. Lehmann-Horn K, et al. Among authors: radelfahr f. Ann Clin Transl Neurol. 2014 Jul;1(7):490-6. doi: 10.1002/acn3.71. Epub 2014 Jul 3. Ann Clin Transl Neurol. 2014. PMID: 25356419 Free PMC article.
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).
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. Reetz K, et al. Neurol Res Pract. 2019 Oct 15;1:33. doi: 10.1186/s42466-019-0038-9. eCollection 2019. Neurol Res Pract. 2019. PMID: 33324899 Free PMC article. Clinical Trial.