Helena Luque

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., Johari, M., Savarese, M., Hackman, P., Kornblum, C. & Udd, B., 17 okt. 2023, I: Human Molecular Genetics. 32, 21, s. 3029-3039 11 s.

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P164 Development of a myotube model for C terminal titin studies

Sarparanta, J., Luque, H., Zacchini, C., Hackman, P. & Udd, B., okt. 2023, I: Neuromuscular Disorders. 33, Supplement 1, s. S141 1 s.

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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.

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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 andra, Lahermo, P., Donner, K., Comi, G. P., Nigro, V., Hackman, P. & Udd, B., aug. 2021, I: Acta Neuropathologica. 142, s. 375-393 19 s.

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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 andra, Petiot, 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

Helena Luque

Internationellt och inhemskt samarbete

Fördjupning

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

P164 Development of a myotube model for C terminal titin studies

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

Helena Luque

Internationellt och inhemskt samarbete

Publikationer

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

P164 Development of a myotube model for C terminal titin studies

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