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 17
2011 26
2012 49
2013 60
2014 34
2015 16
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

180 results

Results by year

Filters applied: . Clear all
Page 1
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H. Lynch DS, et al. J Neurol Neurosurg Psychiatry. 2016 May;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2. J Neurol Neurosurg Psychiatry. 2016. PMID: 25935893 Free PMC article.
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Am J Hum Genet. 2015 Apr 2;96(4):657-65. doi: 10.1016/j.ajhg.2015.02.007. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799108 Free PMC article.
Polygenic risk of Parkinson disease is correlated with disease age at onset.
Escott-Price V; International Parkinson's Disease Genomics Consortium; Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM; IPDGC consortium members. Escott-Price V, et al. Ann Neurol. 2015 Apr;77(4):582-91. doi: 10.1002/ana.24335. Epub 2015 Mar 13. Ann Neurol. 2015. PMID: 25773351 Free PMC article.
Clinical prodromes of neurodegeneration in Anderson-Fabry disease.
Löhle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A, Schapira AH. Löhle M, et al. Neurology. 2015 Apr 7;84(14):1454-64. doi: 10.1212/WNL.0000000000001450. Epub 2015 Mar 11. Neurology. 2015. PMID: 25762709 Free PMC article.
180 results