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Page 1
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.
Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ. Muelas N, et al. Among authors: luque h. Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5. Neurology. 2010. PMID: 20733148
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Hackman P, et al. Among authors: luque h. Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11. Ann Neurol. 2013. PMID: 23401021
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: luque h. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: luque h. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Johari M, et al. Among authors: luque h. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11. Acta Neuropathol. 2021. PMID: 33974137 Free PMC article.
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B. Hackman P, et al. Among authors: luque h. Neurol Genet. 2021 Oct 27;7(6):e632. doi: 10.1212/NXG.0000000000000632. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34722876 Free PMC article.
16 results