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

12 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: alegria p. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
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: alegria p. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: alegria p. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
Alzheimer's disease: a clinical practice-oriented review.
Alves L, Correia AS, Miguel R, Alegria P, Bugalho P. Alves L, et al. Among authors: alegria p. Front Neurol. 2012 Apr 20;3:63. doi: 10.3389/fneur.2012.00063. eCollection 2012. Front Neurol. 2012. PMID: 22529838 Free PMC article.
Standardization and diagnostic utility of the Frontal Assessment Battery for healthy people and patients with dementia in the Chilean population.
Grandi F, Martínez-Pernía D, Parra M, Olavarria L, Huepe D, Alegria P, Aliaga Á, Lillo P, Delgado C, Tenorio M, Rosas R, López O, Becker J, Slachevsky A. Grandi F, et al. Among authors: alegria p. Dement Neuropsychol. 2022 Jan-Mar;16(1):69-78. doi: 10.1590/1980-5764-DN-2021-0059. Dement Neuropsychol. 2022. PMID: 35719260 Free PMC article.
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, Forascepi R, Macias J, del Pino MD, Prados MD, de Alegria PR, Torres G, Vidau P, Sá-Miranda MC. Gaspar P, et al. Among authors: de alegria pr. BMC Med Genet. 2010 Feb 1;11:19. doi: 10.1186/1471-2350-11-19. BMC Med Genet. 2010. PMID: 20122163 Free PMC article.
12 results