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

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1894 1
1947 1
1951 1
1959 2
1961 3
1963 1
1964 1
1965 1
1966 1
1969 2
1971 1
1972 1
1973 1
1974 1
1975 1
1976 1
1981 1
1982 2
1985 1
1986 1
1989 1
1990 2
1991 1
1993 3
1994 1
1995 2
1997 1
1998 1
1999 1
2003 1
2005 1
2007 1
2008 1
2009 1
2010 2
2011 1
2012 3
2013 7
2014 16
2015 11
2016 7
2017 7
2018 6
2019 5
2020 8
2021 10
2022 9
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 25480986

113 results

Results by year

Filters applied: . Clear all
Page 1
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. 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.
A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.
Patsi O, De Beaufort C, Kerschen P, Cardillo S, Soehn A, Rautenberg M, Diederich NJ. Patsi O, et al. J Neurol Sci. 2018 Sep 15;392:1-2. doi: 10.1016/j.jns.2018.06.016. Epub 2018 Jun 21. J Neurol Sci. 2018. PMID: 30097146 Free article. No abstract available.
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L. Lisbjerg K, et al. Ophthalmic Genet. 2021 Aug;42(4):464-473. doi: 10.1080/13816810.2021.1904419. Epub 2021 Apr 5. Ophthalmic Genet. 2021. PMID: 33818269 Review.
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Synofzik M, et al. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.
PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S. Synofzik M, et al. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25299038 Free Books & Documents. Review.
113 results