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The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Rattay TW, Völker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schüle R, Martus P, Schöls L. Rattay TW, et al. Among authors: schols l. Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155. Brain. 2023. PMID: 35472722
This study depicts subtle clinical signs which develop before gait abnormalities in SPG4. Long-term follow-up is needed to study the evolution of SPG4 in the prodromal stage and conversion into manifest disease. ...
This study depicts subtle clinical signs which develop before gait abnormalities in SPG4. Long-term follow-up is needed to study the …
Allele-specific targeting of mutant ataxin-3 by antisense oligonucleotides in SCA3-iPSC-derived neurons.
Hauser S, Helm J, Kraft M, Korneck M, Hübener-Schmid J, Schöls L. Hauser S, et al. Among authors: schols l. Mol Ther Nucleic Acids. 2021 Nov 19;27:99-108. doi: 10.1016/j.omtn.2021.11.015. eCollection 2022 Mar 8. Mol Ther Nucleic Acids. 2021. PMID: 34938609 Free PMC article.
We found ASOmut4 to reduce levels of mutant ataxin-3 by 80% after 10 days while leaving expression of wild-type ataxin-3 largely unaffected. In a long-term study we proved this effect to last for about 4 weeks after a single treatment without signs of neurotoxicity. ...
We found ASOmut4 to reduce levels of mutant ataxin-3 by 80% after 10 days while leaving expression of wild-type ataxin-3 largely unaffected. …
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
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. Feil K, et al. Among authors: schols l. JAMA Netw Open. 2021 Dec 1;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841. JAMA Netw Open. 2021. PMID: 34905009 Free PMC article. Clinical Trial.
These findings suggest that further symptom-oriented trials are needed for evaluating the long-term effects of acetyl-DL-leucine for well-defined subgroups of cerebellar ataxia. ...
These findings suggest that further symptom-oriented trials are needed for evaluating the long-term effects of acetyl-DL-leucine for …
NfL and pNfH are increased in Friedreich's ataxia.
Hayer SN, Liepelt I, Barro C, Wilke C, Kuhle J, Martus P, Schöls L; EFACTS study group. Hayer SN, et al. Among authors: schols l. J Neurol. 2020 May;267(5):1420-1430. doi: 10.1007/s00415-020-09722-6. Epub 2020 Jan 30. J Neurol. 2020. PMID: 32002649 Free PMC article.
CONCLUSION: Serum levels of NfL and pNfH are elevated in Friedreich's ataxia, but differences to healthy controls decrease with increasing age. Long-term longitudinal data are required to explore whether this reflects a selection bias from early death of more severely affe …
CONCLUSION: Serum levels of NfL and pNfH are elevated in Friedreich's ataxia, but differences to healthy controls decrease with increasing a …
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: schols l. 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.
Nicotinamide acts as a histone deacetylase inhibitor. Dose escalation studies have shown, that short term treatment with dosages of up to 4 g/day increase the expression of FXN mRNA and frataxin protein up to the levels of asymptomatic heterozygous gene carriers. The long- …
Nicotinamide acts as a histone deacetylase inhibitor. Dose escalation studies have shown, that short term treatment with dosages of u …
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: schols l. Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18. Mov Disord. 2019. PMID: 31211461
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: schols l. J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29. J Neurol. 2018. PMID: 29959555
INTRODUCTION: To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and …
INTRODUCTION: To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxia …
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
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. Schöls L, et al. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
As expected, no effects were seen on clinical outcome parameters in this short-term trial. In this study, we define the mutational and phenotypic spectrum of SPG5, examine the correlation of disease severity and progression with oxysterol concentrations, and demonstrate in …
As expected, no effects were seen on clinical outcome parameters in this short-term trial. In this study, we define the mutational an …
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
Röeben B, Marquetand J, Bender B, Billing H, Haack TB, Sanchez-Albisua I, Schöls L, Blom HJ, Synofzik M. Röeben B, et al. Among authors: schols l. Orphanet J Rare Dis. 2017 Aug 1;12(1):135. doi: 10.1186/s13023-017-0687-0. Orphanet J Rare Dis. 2017. PMID: 28764801 Free PMC article.
These findings have direct important implications for clinical practice: They prevent a burdensome, long-term invasive, but ultimately probably ineffective procedure in future MNGIE patients....
These findings have direct important implications for clinical practice: They prevent a burdensome, long-term invasive, but ultimatel …
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: schols l. 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
As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to study the long-term disease progression of the most common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6. ...
As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to study the …
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