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
2006 1
2012 2
2013 2
2014 8
2015 7
2016 2
2017 1
2018 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
Page 1
Syndromic associations and RNF216 mutations.
Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H. Ganos C, et al. Among authors: hersheson j. Parkinsonism Relat Disord. 2015 Nov;21(11):1389-90. doi: 10.1016/j.parkreldis.2015.09.010. Epub 2015 Sep 4. Parkinsonism Relat Disord. 2015. PMID: 26421393 No abstract available.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Among authors: hersheson j. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
The 4H syndrome due to RNF216 mutation.
Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H. Ganos C, et al. Among authors: hersheson j. Parkinsonism Relat Disord. 2015 Sep;21(9):1122-3. doi: 10.1016/j.parkreldis.2015.07.012. Epub 2015 Jul 18. Parkinsonism Relat Disord. 2015. PMID: 26250479 No abstract available.
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H. Hersheson J, et al. Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. Neurology. 2014. PMID: 25298308 Free PMC article. No abstract available.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: hersheson j. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium. Bettencourt C, et al. Among authors: hersheson j. JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756. JAMA Neurol. 2014. PMID: 24862029 Free PMC article. Clinical Trial.
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H. Wiethoff S, et al. Among authors: hersheson j. Cerebellum. 2017 Feb;16(1):262-267. doi: 10.1007/s12311-016-0769-x. Cerebellum. 2017. PMID: 26995604 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: hersheson j. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: hersheson j. Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17. Neurology. 2015. PMID: 26085604 Free PMC article.
22 results