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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: marti mj. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Worldwide barriers to genetic testing for movement disorders.
Gatto EM, Walker RH, Gonzalez C, Cesarini M, Cossu G, Stephen CD, Balint B, Rodríguez-Violante M, Jankovic J, Morgante F, Jinnah HA; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society. Gatto EM, et al. Eur J Neurol. 2021 Jun;28(6):1901-1909. doi: 10.1111/ene.14826. Epub 2021 Apr 9. Eur J Neurol. 2021. PMID: 33730413
Neuronal induction and bioenergetics characterization of human forearm adipose stem cells from Parkinson's disease patients and healthy controls.
González-Casacuberta I, Vilas D, Pont-Sunyer C, Tobías E, Cantó-Santos J, Valls-Roca L, García-García FJ, Garrabou G, Grau-Junyent JM, Martí MJ, Cardellach F, Morén C. González-Casacuberta I, et al. Among authors: marti mj. PLoS One. 2022 Mar 15;17(3):e0265256. doi: 10.1371/journal.pone.0265256. eCollection 2022. PLoS One. 2022. PMID: 35290400 Free PMC article.
Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.
Lobon I, Solís-Moruno M, Juan D, Muhaisen A, Abascal F, Esteller-Cucala P, García-Pérez R, Martí MJ, Tolosa E, Ávila J, Rahbari R, Marques-Bonet T, Casals F, Soriano E. Lobon I, et al. Among authors: marti mj. Front Aging. 2022 Apr 28;3:851039. doi: 10.3389/fragi.2022.851039. eCollection 2022. Front Aging. 2022. PMID: 35821807 Free PMC article.
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.
Fernández-Santiago R, Martín-Flores N, Antonelli F, Cerquera C, Moreno V, Bandres-Ciga S, Manduchi E, Tolosa E, Singleton AB, Moore JH; International Parkinson's Disease Genomics Consortium; Martí MJ, Ezquerra M, Malagelada C. Fernández-Santiago R, et al. Among authors: marti mj. Mov Disord. 2019 Sep;34(9):1333-1344. doi: 10.1002/mds.27770. Epub 2019 Jun 24. Mov Disord. 2019. PMID: 31234232 Free PMC article.
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: marti mj. Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28. Mov Disord. 2017. PMID: 28845923 Free article.
Myocardial infarction and alcohol consumption: a population-based case-control study.
Schröder H, Masabeu A, Marti MJ, Cols M, Lisbona JM, Romagosa C, Carión T, Vilert E, Marrugat J; REGICOR investigators. Schröder H, et al. Among authors: marti mj. Nutr Metab Cardiovasc Dis. 2007 Oct;17(8):609-15. doi: 10.1016/j.numecd.2006.04.010. Epub 2006 Oct 30. Nutr Metab Cardiovasc Dis. 2007. PMID: 17074471