Helena Luque

E-postadresshelena.luquehelsinkifi

Forskningsoutput per år

Om du gjort några ändringar i Pure kommer de visas här snart.

12 Artikel
2 Mötesabstrakt

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene
Hackman, P., Rusanen, S. M., Johari, M., Vihola, A., Jonson, P. H., Sarparanta, J., Donner, K., Lahermo, P., Koivunen, S., Luque, H., Soininen, M., Mahjneh, I., Auranen, M., Arumilli, M., Savarese, M. & Udd, B., dec. 2021, I: Neurology Genetics. 7, 6, 10 s., 632.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Öppen tillgång
Fil
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Johari, M., Sarparanta, J., Vihola, A., Jonson, P. H., 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, N. B., Luque, H., Huovinen, S., & 6 andraLahermo, P., Donner, K., Comi, G. P., Nigro, V., Hackman, P. & Udd, B., aug. 2021, I: Acta Neuropathologica. 142, s. 375-393 19 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Öppen tillgång
Fil
Genotype-phenotype correlations in recessive titinopathies
Savarese, M., Vihola, A., Oates, E. C., Barresi, R., Fiorillo, C., Tasca, G., Jokela, M., Sarkozy, A., Luo, S., Diaz-Manera, J., Ehrstedt, C., Rojas-Garcia, R., Saenz, A., Muelas, N., Lonardo, F., Fodstad, H., Qureshi, T., Johari, M., Välipakka, S., Luque, H., & 21 andraPetiot, P., de Munain, A. L., Pane, M., Mercuri, E., Torella, A., Nigro, V., Astrea, G., Santorelli, F. M., Bruno, C., Kuntzer, T., Illa, I., Vilchez, J. J., Julien, C., Ferreiro, A., Malandrini, A., Zhao, C-B., Casar-Borota, O., Davis, M., Muntoni, F., Hackman, P. & Udd, B., dec. 2020, I: Genetics In medicine. 22, 12, s. 2029-2040 12 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I. & Udd, B., aug. 2018, I: Neuropathology and Applied Neurobiology. 44, 5, s. 441-448 8 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., 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, M. B., & 21 andraFiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., maj 2018, I: JAMA neurology. 75, 5, s. 557-565 9 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Helena Luque

Internationellt och inhemskt samarbete

Fördjupning

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Genotype-phenotype correlations in recessive titinopathies

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Helena Luque

Internationellt och inhemskt samarbete

Publikationer

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Genotype-phenotype correlations in recessive titinopathies

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders