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 2
2011 2
2012 3
2013 3
2014 1
2018 1
2020 1
2021 3
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Among authors: catalli c. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant.
Squitti R, Catalli C, Gigante L, Marianetti M, Rosari M, Mariani S, Bucossi S, Mastromoro G, Ventriglia M, Simonelli I, Tondolo V, Singh P, Kumar A, Pal A, Rongioletti M. Squitti R, et al. Among authors: catalli c. Int J Mol Sci. 2023 Mar 28;24(7):6377. doi: 10.3390/ijms24076377. Int J Mol Sci. 2023. PMID: 37047347 Free PMC article.
Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.
García M, Rouco-Axpe I, Amayra I, Rodríguez-Antigüedad A, Catalli C, Cabrera-Zubizarreta A, Rodríguez AA, Pérez M. García M, et al. Among authors: catalli c. Arch Clin Neuropsychol. 2022 Jul 19;37(5):904-915. doi: 10.1093/arclin/acac024. Arch Clin Neuropsychol. 2022. PMID: 35484833
Suicidal ideation in a European Huntington's disease population.
Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network. Hubers AA, et al. J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20. J Affect Disord. 2013. PMID: 23876196 Free article.
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.
Orth M; European Huntington's Disease Network; Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Orth M, et al. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 21097549 No abstract available.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement.
Moreno-Estébanez A, Losada Domingo JM, Catalli C, González-Pinto González T, Agirre-Beitia G, Campos Rodríguez I, Díaz-Cuervo I, Lasa Elgezua O. Moreno-Estébanez A, et al. Among authors: catalli c. Clin Neurol Neurosurg. 2020 Aug;195:105965. doi: 10.1016/j.clineuro.2020.105965. Epub 2020 May 26. Clin Neurol Neurosurg. 2020. PMID: 32485551 No abstract available.
16 results