Marco Savarese

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37 Artikel
4 Översiktsartikel
1 Mötesabstrakt
1 Ledare
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Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking
Swan, A. H., Schindler, R. F. R., Savarese, M., Mayer, I., Rinne, S., Bleser, F., Schaenzer, A., Hahn, A., Sabatelli, M., Perna, F., Chapman, K., Pfuhl, M., Spivey, A. C., Decher, N., Udd, B., Tasca, G. & Brand, T., 9 jan. 2023, I: Acta Neuropathologica Communications. 11, 1, 25 s., 4.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Öppen tillgång
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy
Lillback, V., Savarese, M., Sandholm, N., Hackman, P. & Udd, B., apr. 2023, I: European Journal of Neurology. 30, 4, s. 1080-1088 9 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Johari, M., Papadimas, G., Papadopoulos, C., Xirou, S., Kanavaki, A., Chrysanthou-Piterou, M., Rusanen, S., Savarese, M., Hackman, P. & Udd, B., okt. 2022, I: Annals of Clinical and Translational Neurology. 9, 10, s. 1660-1667 8 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Onore, M. E., Savarese, M., Picillo, E., Passamano, L., Nigro, V. & Politano, L., dec. 2022, I: International Journal of Molecular Sciences. 23, 24, 10 s., 15906.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Öppen tillgång
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J., Taylor, R. L., & 18 andraFolland, C., Kelly, A., Goullee, H., Ylikallio, E., Auranen, M., Tyynismaa, H., Udd, B., Forrest, A. R. R., Davis, M. R., Bratkovic, D., Manton, N., Robertson, T., O'Gorman, C., McCombe, P., Laing, N. G., Phillips, L., de Lonlay, P. & Ravenscroft, G., nov. 2022, I: Brain : a journal of neurology. 145, 11, s. 3985–3998 14 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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1 Aktiv

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)
Johari, M., Hackman, P., Udd, B. & Savarese, M.
Päivikki ja Sakari Sohlbergin Säätiö
01/10/2014 → …
Projekt: Forskningsprojekt

Marco Savarese

Internationellt och inhemskt samarbete

Fördjupning

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)

Marco Savarese

Internationellt och inhemskt samarbete

Publikationer

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Projekter

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)