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

Year Number of Results
1981 2
1991 3
1996 1
1999 3
2000 2
2003 1
2004 3
2005 1
2007 2
2008 5
2009 1
2010 3
2011 3
2012 2
2013 3
2014 3
2015 2
2017 3
2018 2
2019 2
2020 5
2021 8
2022 4
2023 3
2024 0

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60 results

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Page 1
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: tomas vila m. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: tomas vila m. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H, Vílchez JJ, Frasquet M, Muelas N, Azorín I, Vílchez R, Millet-Sancho E, Pitarch I, Tomás-Vila M, Vázquez-Costa JF, Mas-Estellés F, Marco-Marín C, Espinós C, Serrano-Lorenzo P, Martin MA, Lupo V, Sevilla T. Argente-Escrig H, et al. Among authors: tomas vila m. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10. Neuropathol Appl Neurobiol. 2022. PMID: 35342985
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV, Tomás-Vila M, Montoya-Filardi A, Barranco-González H, Vilchez Padilla JJ, Azorín I, Smeyers Dura P, Monfort-Membrado S, Pitarch-Castellano I, Martínez-Castellano F. Marco-Hernández AV, et al. Among authors: tomas vila m. Clin Genet. 2022 Feb;101(2):233-241. doi: 10.1111/cge.14093. Epub 2021 Dec 5. Clin Genet. 2022. PMID: 34842280
Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital.
Rubio Atienza Y, Torrejón Rodríguez L, Marco Hernández A, Tomás Vila M. Rubio Atienza Y, et al. Among authors: tomas vila m. Andes Pediatr. 2021 Jun;92(3):389-394. doi: 10.32641/andespediatr.v92i3.3344. Andes Pediatr. 2021. PMID: 34479245 Free article. English, Spanish.
60 results