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Page 1
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.
Post AEM, Klockgether T, Landwehrmeyer GB, Pandolfo M, Arnesen A, Reinhard C, Graessner H. Post AEM, et al. Among authors: klockgether t. Orphanet J Rare Dis. 2021 Mar 18;16(1):135. doi: 10.1186/s13023-020-01641-z. Orphanet J Rare Dis. 2021. PMID: 33736655 Free PMC article.
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: klockgether t. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. Jacobi H, et al. Among authors: klockgether t. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB. Reetz K, et al. Among authors: klockgether t. Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5. Lancet Neurol. 2015. PMID: 25566998 Clinical Trial.
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Jacobi H, et al. Among authors: klockgether t. Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13. Lancet Neurol. 2015. PMID: 26377379
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
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. Reetz K, et al. Among authors: klockgether t. Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3. Lancet Neurol. 2016. PMID: 27839651 Clinical Trial.
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.
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. Tanguy Melac A, et al. Among authors: klockgether t. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26. J Neurol Neurosurg Psychiatry. 2018. PMID: 29279305
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Among authors: klockgether t. Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13. Lancet Neurol. 2018. PMID: 29553382
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T. Jacobi H, et al. Among authors: klockgether t. J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29. J Neurol. 2018. PMID: 29959555
Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).
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. Reetz K, et al. Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10. Neurology. 2018. PMID: 30097477
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Among authors: klockgether t. Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct. Mov Disord Clin Pract. 2017. PMID: 30363449 Free PMC article.
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.
Paap BK, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehéricy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, Tsuji S, Schulz JB, van de Warrenburg BP, Klockgether T. Paap BK, et al. Among authors: klockgether t. Mov Disord Clin Pract. 2016 Feb 11;3(3):230-240. doi: 10.1002/mdc3.12315. eCollection 2016 May-Jun. Mov Disord Clin Pract. 2016. PMID: 30363623 Free PMC article. Review.
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Among authors: klockgether t. Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18. Mov Disord. 2019. PMID: 31211461
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. Among authors: klockgether t. 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.
The European Reference Network for Rare Neurological Diseases.
Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H. Reinhard C, et al. Among authors: klockgether t. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020. Front Neurol. 2021. PMID: 33519696 Free PMC article. Review.
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. Among authors: klockgether t. 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
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
Klockgether T, Ashizawa T, Brais B, Chuang R, Durr A, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Pedroso JL, Soong BW, Szmulewicz D, Graessner H, Synofzik M; Ataxia Global Initiative (AGI). Klockgether T, et al. Mov Disord. 2022 Jun;37(6):1125-1130. doi: 10.1002/mds.29032. Epub 2022 Apr 27. Mov Disord. 2022. PMID: 35475582 No abstract available.
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, Wolf NI. Schoenmakers DH, et al. Among authors: klockgether t. Neurology. 2024 Sep 24;103(6):e209743. doi: 10.1212/WNL.0000000000209743. Epub 2024 Aug 22. Neurology. 2024. PMID: 39173102 Free PMC article.
Scale for the assessment and rating of ataxia: development of a new clinical scale.
Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schöls L, Szymanski S, van de Warrenburg BP, Dürr A, Klockgether T, Fancellu R. Schmitz-Hübsch T, et al. Among authors: klockgether t. Neurology. 2006 Jun 13;66(11):1717-20. doi: 10.1212/01.wnl.0000219042.60538.92. Neurology. 2006. PMID: 16769946 Clinical Trial.
558 results