Marco Savarese

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Research activity per year

51 Article
5 Review Article
1 Chapter
1 Meeting Abstract
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- 1 Editorial
- 1 Letter

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
Claeys, K. G., Savarese, M., Jonson, P. H., Goosens, V., Topf, A., Vihola, A., Straub, V. & Udd, B., Oct 2024, In: Neurology Genetics. 10, 5, 6 p., e200185.
Research output: Contribution to journal › Article › Scientific › peer-review
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Solve-RD consortium, Demidov, G., Yaldiz, B., Garcia-Pelaez, J., Zguro, K., Udd, B., Savarese, M., Johari, M., Hackman, P. & Sagath, L., Dec 2024, In: Npj genomic medicine. 9, 1, 24 p., 49.
Research output: Contribution to journal › Article › Scientific › peer-review

Open Access
File
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Töpf, A., Cox, D., Zaharieva, I. T., Di Leo, V., Sarparanta, J., Jonson, P. H., Sealy, I. M., Smolnikov, A., White, R. J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K. M., Venturini, C., Vroling, B., Stenton, S. L., Cummings, B. B., Harris, E. & Marini-Bettolo, C. & 65 others, Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E. M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A. H., Bodi, I., Bommireddipalli, S., Bönnemann, C. G., Cairns, A., Chiew, M. T., Claeys, K. G., Cooper, S. T., Davis, M. R., Donkervoort, S., Erasmus, C. E., Fassad, M. R., Genetti, C. A., Grosmann, C., Jungbluth, H., Kamsteeg, E. J., Lornage, X., Löscher, W. N., Malfatti, E., Manzur, A., Martí, P., Mongini, T. E., Muelas, N., Nishikawa, A., O’Donnell-Luria, A., Ogonuki, N., O’Grady, G. L., O’Heir, E., Paquay, S., Phadke, R., Pletcher, B. A., Romero, N. B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R. W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N. C., Wanschitz, J. V., Wraige, E., Yoshimura, K., Oates, E. C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J. J., MacArthur, D. G., Sarkozy, A., Cordell, H. J., Udd, B., Busch-Nentwich, E. M., Muntoni, F. & Straub, V., Mar 2024, In: Nature Genetics. 56, 3, p. 395-407 13 p.
Research output: Contribution to journal › Article › Scientific › peer-review

Open Access
File
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Mohan, S., McNulty, S., Thaxton, C., Elnagheeb, M., Owens, E., Flowers, M., Nunnery, T., Self, A., Palus, B., Gorokhova, S., Kennedy, A., Niu, Z., Johari, M., Maiga, A. B., Macalalad, K., Clause, A. R., Beckmann, J. S., Bronicki, L., Cooper, S. T. & Ganesh, V. S. & 10 others, Kang, P. B., Kesari, A., Lek, M., Levy, J., Rufibach, L., Savarese, M., Spencer, M. J., Straub, V., Tasca, G. & Weihl, C. C., 2024, In: Annals of Clinical and Translational Neurology. 9 p.
Research output: Contribution to journal › Article › Scientific › peer-review

Open Access
File
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Lehtonen, J., Sulonen, A.-M., Almusa, H., Lehtokari, V.-L., Johari, M., Palva, A., Hakonen, A. H., Wartiovaara, K., Lehesjoki, A.-E., Udd, B., Wallgren-Pettersson, C., Pelin, K., Savarese, M. & Saarela, J., Dec 2024, In: Scientific Reports. 14, 1, 4306.
Research output: Contribution to journal › Article › Scientific › peer-review

Open Access
File

1 Active

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)
Johari, M. (Project manager), Hackman, P. (Project manager), Udd, B. (Principal Investigator) & Savarese, M. (Participant)
Päivikki ja Sakari Sohlbergin Säätiö
01/10/2014 → …
Project: Research project

Marco Savarese

International and National Collaboration

Dive into details

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

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

Marco Savarese

International and National Collaboration

Publications

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

Projects

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