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
2013 1
2015 1
2016 2
2019 1
2020 3
2022 4
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: pias peleteiro l. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
HaNDL syndrome in a 14-year-old girl.
Rivero-Sanz E, Pias-Peleteiro L, Gonzalez-Alvarez V. Rivero-Sanz E, et al. Among authors: pias peleteiro l. BMJ Case Rep. 2016 Jan 14;2016:bcr2015213018. doi: 10.1136/bcr-2015-213018. BMJ Case Rep. 2016. PMID: 26768705 Free PMC article. Review.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Among authors: pias peleteiro l. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Balestrini S, et al. Among authors: pias peleteiro l. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913013 Free PMC article.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Juliá-Palacios N, Molina-Anguita C, Sigatulina Bondarenko M, Cortès-Saladelafont E, Aparicio J, Cuadras D, Horvath G, Fons C, Artuch R, García-Cazorla À; Institut de Recerca Sant Joan de Déu Working Group. Juliá-Palacios N, et al. Dev Med Child Neurol. 2022 Jul;64(7):915-923. doi: 10.1111/dmcn.15140. Epub 2022 Jan 31. Dev Med Child Neurol. 2022. PMID: 35833444 Free article.
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: pias peleteiro l. Ann Clin Transl Neurol. 2020 Oct;7(10):2019-2025. doi: 10.1002/acn3.51199. Epub 2020 Sep 18. Ann Clin Transl Neurol. 2020. PMID: 32949115 Free PMC article.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch R, Pías-Peleteiro L, García-Cazorla Á, Barić I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM, Willemsen MAAP. Peters TMA, et al. Among authors: pias peleteiro l. J Inherit Metab Dis. 2023 Jan;46(1):66-75. doi: 10.1002/jimd.12554. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36088537 Free PMC article.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: pias peleteiro l. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: pias peleteiro l. J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23. J Inherit Metab Dis. 2020. PMID: 32391929
12 results