Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

205 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Among authors: boesch s. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P, Škorvánek M, Kittke V, Dzinovic I, Borngräber F, Thomsen M, Mandel V, Svorenova T, Ostrozovicova M, Kulcsarova K, Berutti R, Busch H, Ott F, Kopajtich R, Prokisch H, Kumar KR, Mencacci NE, Kurian MA, Di Fonzo A, Boesch S, Kühn AA, Blümlein U, Lohmann K, Haslinger B, Weise D, Jech R, Winkelmann J, Zech M. Harrer P, et al. Among authors: boesch s. Mov Disord. 2023 Oct;38(10):1914-1924. doi: 10.1002/mds.29562. Epub 2023 Jul 23. Mov Disord. 2023. PMID: 37485550
Genetic Determined Iron Starvation Signature in Friedreich's Ataxia.
Grander M, Haschka D, Indelicato E, Kremser C, Amprosi M, Nachbauer W, Henninger B, Stefani A, Högl B, Fischer C, Seifert M, Kiechl S, Weiss G, Boesch S. Grander M, et al. Among authors: boesch s. Mov Disord. 2024 Apr 30. doi: 10.1002/mds.29819. Online ahead of print. Mov Disord. 2024. PMID: 38686449
GAA/FGF14 ataxia: an ode to the phenotype-first approach.
Indelicato E, Boesch S. Indelicato E, et al. Among authors: boesch s. EBioMedicine. 2024 Apr 16;103:105131. doi: 10.1016/j.ebiom.2024.105131. Online ahead of print. EBioMedicine. 2024. PMID: 38631092 Free PMC article. No abstract available.
Approval of omaveloxolone for Friedreich ataxia.
Boesch S, Indelicato E. Boesch S, et al. Nat Rev Neurol. 2024 Apr 3. doi: 10.1038/s41582-024-00957-9. Online ahead of print. Nat Rev Neurol. 2024. PMID: 38570703 No abstract available.
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M. Sorrentino U, et al. Among authors: boesch s. J Neurol. 2024 May;271(5):2859-2865. doi: 10.1007/s00415-024-12271-x. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38441608 Free PMC article.
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz Martinez J, de Lucas EM, Berjon RS, Infante Ceberio J, Indelicato E, Boesch S, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Chen S, et al. Among authors: boesch s. medRxiv [Preprint]. 2024 Feb 18:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
SOXopathies and dystonia: Consolidation of a recurrent association.
Indelicato E, Boesch S, Havrankova P, Příhodová I, Winkelmann J, Jech R, Zech M. Indelicato E, et al. Among authors: boesch s. Parkinsonism Relat Disord. 2024 Feb;119:105960. doi: 10.1016/j.parkreldis.2023.105960. Epub 2023 Dec 16. Parkinsonism Relat Disord. 2024. PMID: 38141365 No abstract available.
205 results