Thomas Klockgether - Selected Publications#

Klockgether T, Kramer B, Lüdtke R, Schöls L, Laccone F. Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 1996;348:830.

Abele M, Bürk K, Schöls L, Schwartz S, Besenthal I, Dichgans J, Zühlke C, Riess O, Klockgether T. The aetiology of sporadic adult-onset ataxia. Brain 2002;125:961-8.

Schmitz-Hübsch T, Tezenas du Montcel S, 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. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-20.

Highly cited (>1,000 citations) describing the development and validation of a clinical ataxia scale that is currently considered the golden standard in the ataxia field

Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol 2010;9:94-104.

Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, Doerr J, Ladewig J, Mertens J, Tüting T, Hoffmann P, Klockgether T, Evert BO, Wüllner U, Brüstle O. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 2011;480:543-6.

One of the first paper reporting a disease phenotype in neurons derived from inducible pluripotent stem cells from patients

Jacobi H, Reetz K, Tezenas du Montcel S, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Dürr A, Charles P, Filla A, Antenora A, Schöls L, Schicks J, Infante J, Kang J-S, Timmann D, Di Fabio R, Masciullo M, Baliko L, Bela M, Boesch S, Bürk K, Peltz A, Schulz JB, Dufaure-Garé I, Klockgether T. Prospective study of individuals at risk for spinocerebellar ataxia type 1, 2, 3 and 6 (RISCA): analysis of baseline data. Lancet Neurol 2013;12:650-8.

First study of premanifest mutation carriers of common genetic ataxias.

Multiple-System Atrophy Research Collaboration. Mutations of COQ2 in familial and sporadic multiple system atrophy. N Engl J Med 2013;369:233-44.

International collaborative project that identified the first causative mutation for musltiple system atrophy.

Jacobi H, Tezenas du Montcel S, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Dürr 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 J-S, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 2015;14:1101–8.

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. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Lancet Neurol 2018;17:327-34.

Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers 2019;5:24.

Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T. Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study. Lancet Neurol 2020;19:738-47.

Grobe-Einsler M, Faber J, Taheri A, Kybelka J, Raue J, Volkening J, Helmhold F, Synofzik M, Klockgether T. SARAspeech - Feasibility of automated assessment of ataxic speech disturbance. NPJ Digit Med 2023;6:43.