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

273 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Among authors: pittman a. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Genetics of progressive supranuclear palsy.
Pittman A, de Silva R, Lees AJ, Wood NW. Pittman A, et al. Handb Clin Neurol. 2008;89:475-85. doi: 10.1016/S0072-9752(07)01244-4. Handb Clin Neurol. 2008. PMID: 18631770 No abstract available.
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T. Kara E, et al. Among authors: pittman am. Neurobiol Aging. 2012 Sep;33(9):2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006. Epub 2012 May 16. Neurobiol Aging. 2012. PMID: 22595371 Free PMC article.
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Among authors: pittman a. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
Genetic analysis in neurology: the next 10 years.
Pittman A, Hardy J. Pittman A, et al. JAMA Neurol. 2013 Jun;70(6):696-702. doi: 10.1001/jamaneurol.2013.2068. JAMA Neurol. 2013. PMID: 23571731 Free PMC article. Review.
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: pittman am. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.
Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H. Kara E, et al. Among authors: pittman am. JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994. JAMA Neurol. 2014. PMID: 25003242 Free PMC article.
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Liu YT, et al. Among authors: pittman a. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008398 Free PMC article.
273 results