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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 4
2012 1
2014 3
2015 1
2016 1
2018 6
2019 9
2020 13
2021 10
2022 9
2023 15
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Results by year

Filters applied: . Clear all
Page 1
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: szmulewicz dj. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
RFC1-Related Disease: Molecular and Clinical Insights.
Davies K, Szmulewicz DJ, Corben LA, Delatycki M, Lockhart PJ. Davies K, et al. Among authors: szmulewicz dj. Neurol Genet. 2022 Aug 29;8(5):e200016. doi: 10.1212/NXG.0000000000200016. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36046423 Free PMC article.
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.
Milne SC, Corben LA, Roberts M, Szmulewicz D, Burns J, Grobler AC, Williams S, Chua J, Liang C, Lamont PJ, Grootendorst AC, Massey L, Sue C, Dalziel K, LaGrappe D, Willis L, Freijah A, Gerken P, Delatycki MB. Milne SC, et al. Among authors: szmulewicz d. BMJ Open. 2020 Dec 17;10(12):e040230. doi: 10.1136/bmjopen-2020-040230. BMJ Open. 2020. PMID: 33334834 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: szmulewicz dj. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
Bilateral vestibulopathy: a clinical update and proposed diagnostic algorithm.
van Stiphout L, Szmulewicz DJ, Guinand N, Fornos AP, Van Rompaey V, van de Berg R. van Stiphout L, et al. Among authors: szmulewicz dj. Front Neurol. 2023 Dec 19;14:1308485. doi: 10.3389/fneur.2023.1308485. eCollection 2023. Front Neurol. 2023. PMID: 38178884 Free PMC article. Review.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
70 results