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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: tomas vila m. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: tomas vila m. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B. Darling A, et al. Among authors: tomas vila m. Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28. Mov Disord. 2017. PMID: 28845923 Free article.
[HaNDL syndrome in a 12-year-old girl].
Gabaldon-Albero A, Bernad-Mecho D, Alemany-Albert M, Villalba-Perez MD, Tomas-Vila M. Gabaldon-Albero A, et al. Among authors: tomas vila m. Rev Neurol. 2019 Oct 16;69(8):332-336. doi: 10.33588/rn.6908.2019205. Rev Neurol. 2019. PMID: 31588987 Free article. Spanish.
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
[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].
Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez JC, Tomás-Vila M, Martínez-Castellano F. Ballesteros-Cogollos V, et al. Among authors: tomas vila m. Rev Neurol. 2020 Nov 16;71(10):373-376. doi: 10.33588/rn.7110.2020520. Rev Neurol. 2020. PMID: 33145748 Free article. Spanish.
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.
D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macián F, Roselló M, Orellana C, Martínez F, Caro-Llopis A, León-Cariñena S, Tomás-Vila M. D Hidalgo-Santos A, et al. Among authors: tomas vila m. Int J Endocrinol Metab. 2018 Jul 1;16(3):e67329. doi: 10.5812/ijem.67329. eCollection 2018 Jul. Int J Endocrinol Metab. 2018. PMID: 30323850 Free PMC article.
60 results