Marco Savarese

Scopus Author ID ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 35

Top Venues

International journal of molecular sciences

European journal of neurology

Annals of clinical and translational neurology

Acta neuropathologica communications

Folkhalsan Istitute of Genetics

Seconda Università degli Studi di Napoli (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Folkhalsan Istitute of Genetics

Finland

Post-Doc

Seconda Università degli Studi di Napoli

Italy

Post-Doc :: Dipartimento di Biochimica, Biofisica e Patologia Generale

Seconda Università degli Studi di Napoli

Italy

PhD student :: Dipartimento di Biochimica, Biofisica e Patologia Generale

Telethon Institute of Genetics and Medicine

Italy

Resident

Telethon Institute of Genetics and Medicine

Italy

Resident

Education History

Seconda Università degli Studi di Napoli

Italy

PHD

Publications

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A Austin-Tse, Vijay S Ganesh, Melanie C O'Leary, Heidi L Rehm, Michael K Hehir, Sub H Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation. Annals of clinical and translational neurology (2024)
Sara Bortolani, Marco Savarese, Gaetano Vattemi, Silvia Bonanno, Yuri Matteo Falzone, Alessia Pugliese, Guido Primiano, Cristina Sancricca, Diego Lopergolo, Giulia Greco, Chiara Gemelli, Sabrina Ravaglia, Roberta P Bencivenga, Daniele Velardo, Francesca Magri, Maria L Valentino, Marta Cheli, Eleonora Torchia, Matteo Lucchini, Antonio Petrucci, Giulia Ricci, Matteo Garibaldi, Guja Astrea, Anna Rubegni, Corrado I Angelini, Alessandra Ariatti, Filippo M Santorelli, Alessandra Ruggieri, Giovanni Antonini, Gabriele Siciliano, Massimiliano Mirabella, Massimiliano Mirabella, Rocco Liguori, Giacomo P Comi, Lucia Ruggiero, Marina Grandis, Roberto Massa, Alessandro Malandrini, Serenella Servidei, Tiziana E Mongini, Carmelo Rodolico, Antonio Toscano, Previtali Stefano Carlo, Paola Tonin, Jordi Diaz-Manera, Mauro Monforte, Enzo Ricci, Lorenzo Maggi, Giorgio Tasca
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network. Neurology 103 (4) (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera-de Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A Kurbatov, Tania Attie-Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese
Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of clinical and translational neurology (2024)
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. European journal of neurology 30 (4) (2023)
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. European journal of neurology 30 (4) (2023)
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd
Long term favorable prognosis in late onset dominant distal titinopathy - Tibial Muscular Dystrophy. European journal of neurology (2023)
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossee
Titin copy number variations associated with dominant inherited phenotypes. Journal of medical genetics (2023)
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. European journal of neurology (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, Meriel McEntagart, Tessa Homfray, Elisa Giorgio, Guido C Casalis Cavalchini, Alfredo Brusco, Maria Iascone, Luigina Spaccini, Patrizia D'Oria, Marco Savarese, Bjarne Udd
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. Journal of medical genetics (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. European journal of neurology 30 (4) (2023)
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil İbrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O'Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain : a journal of neurology 145 (11) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou-Piterou, Salla M Rusanen, Marco Savarese, Peter Hackman, Bjarne Udd
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. Annals of clinical and translational neurology 9 (10) (2022)
Matteo Marcello, Viviana Cetrangolo, Marco Savarese, Bjarne Udd
Use of animal models to understand titin physiology and pathology. Journal of cellular and molecular medicine 26 (20) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Johanna Ranta-Aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Mutation update for the ACTN2 gene. Human mutation (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. International journal of molecular sciences 23 (24) (2022)
Marco Savarese, Anna Vihola, Manu E Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Previtali Stefano Carlo, Bjarne Udd
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. Neurology. Genetics 7 (5) (2021)
Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. Neurology. Genetics 7 (6) (2021)
Marco Savarese, Anna Vihola, Emily C Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Díaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, Helena Luque, Philippe Petiot, Adolfo López de Munain, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo Maria Santorelli, Claudio Bruno, Thierry Kuntzer, Isabel Illa, Juan J Vílchez, Cedric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar-Borota, Mark Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd
Genotype-phenotype correlations in recessive titinopathies. Genetics in medicine : official journal of the American College of Medical Genetics 22 (12) (2020)
Manu Jokela, Giorgio Tasca, Anna Vihola, Eugenio Mercuri, Per Harald Jonson, Sara Lehtinen, Salla M Rusanen, Marika Pane, Maria Donati, Mridul Johari, Marco Savarese, Sanna Huovinen, Pirjo Isohanni, Johanna Palmio, Päivi Hartikainen, Bjarne Udd
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. Neurology 92 (14) (2019)
Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd, Peter Hackman
The complexity of titin splicing pattern in human adult skeletal muscles. Skeletal muscle 8 (1) (2018)
Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D'Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan De Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado I Angelini, Luisa Politano, Giulio Piluso
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. Genes 9 (11) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Marco Savarese