Increasing Role of Titin Mutations in Neuromuscular Disorders
Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Published in Journal of neuromuscular diseases (30.08.2016)
Published in Journal of neuromuscular diseases (30.08.2016)
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Journal Article
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Published in International journal of molecular sciences (14.12.2022)
Published in International journal of molecular sciences (14.12.2022)
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Journal Article
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Published in PloS one (19.08.2020)
Published in PloS one (19.08.2020)
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Journal Article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
Savarese, Marco, Palmio, Johanna, Poza, Juan José, Weinberg, Jan, Olive, Montse, Cobo, Ana Maria, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, García‐Bragado, Federico, Urtizberea, Jon Andoni, Hackman, Peter, Udd, Bjarne
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Journal Article
P. I. E. N. O.-Petrol-Filling Itinerary Estimation aNd Optimization
Savarese, Marco, Blasi, Antonio de, Zaccagnino, Carmine, Grazia, Carlo Augusto
Published in IEEE access (2024)
Published in IEEE access (2024)
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Journal Article
The complexity of titin splicing pattern in human adult skeletal muscles
Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
Published in Skeletal muscle (29.03.2018)
Published in Skeletal muscle (29.03.2018)
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Journal Article
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Lehtonen, Johanna, Sulonen, Anna-Maija, Almusa, Henrikki, Lehtokari, Vilma-Lotta, Johari, Mridul, Palva, Aino, Hakonen, Anna H., Wartiovaara, Kirmo, Lehesjoki, Anna-Elina, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Savarese, Marco, Saarela, Janna
Published in Scientific reports (21.02.2024)
Published in Scientific reports (21.02.2024)
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Journal Article
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Palmio, Johanna, Jonson, Per Harald, Inoue, Michio, Sarparanta, Jaakko, Bengoechea, Rocio, Savarese, Marco, Vihola, Anna, Jokela, Manu, Nakagawa, Masanori, Noguchi, Satoru, Olivé, Montse, Masingue, Marion, Kerty, Emilia, Hackman, Peter, Weihl, Conrad C., Nishino, Ichizo, Udd, Bjarne
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Journal Article
Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast
Acampora, Dario, Omodei, Daniela, Petrosino, Giuseppe, Garofalo, Arcomaria, Savarese, Marco, Nigro, Vincenzo, Di Giovannantonio, Luca Giovanni, Mercadante, Vincenzo, Simeone, Antonio
Published in Cell reports (Cambridge) (21.06.2016)
Published in Cell reports (Cambridge) (21.06.2016)
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Journal Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Published in Journal of neurology (01.03.2019)
Published in Journal of neurology (01.03.2019)
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Journal Article
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Published in PloS one (07.05.2013)
Published in PloS one (07.05.2013)
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Journal Article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Evilä, Anni, Palmio, Johanna, Vihola, Anna, Savarese, Marco, Tasca, Giorgio, Penttilä, Sini, Lehtinen, Sara, Jonson, Per Harald, De Bleecker, Jan, Rainer, Peter, Auer-Grumbach, Michaela, Pouget, Jean, Salort-Campana, Emmanuelle, Vilchez, Juan J., Muelas, Nuria, Olive, Montse, Hackman, Peter, Udd, Bjarne
Published in Molecular neurobiology (01.11.2017)
Published in Molecular neurobiology (01.11.2017)
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Journal Article
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D'Amico, Adele, Santorelli, Filippo M
Published in Orphanet journal of rare diseases (26.09.2018)
Published in Orphanet journal of rare diseases (26.09.2018)
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Journal Article
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11
Johari, Mridul, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sophia, Kanavaki, Aikaterini, Chrysanthou‐Piterou, Margarita, Rusanen, Salla, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Published in Annals of clinical and translational neurology (01.10.2022)
Published in Annals of clinical and translational neurology (01.10.2022)
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Journal Article
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking
Swan, Alexander H, Schindler, Roland F R, Savarese, Marco, Mayer, Isabelle, Rinné, Susanne, Bleser, Felix, Schänzer, Anne, Hahn, Andreas, Sabatelli, Mario, Perna, Francesco, Chapman, Kathryn, Pfuhl, Mark, Spivey, Alan C, Decher, Niels, Udd, Bjarne, Tasca, Giorgio, Brand, Thomas
Published in Acta neuropathologica communications (09.01.2023)
Published in Acta neuropathologica communications (09.01.2023)
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Journal Article
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
Zhong, Huahua, Sian, Veronica, Johari, Mridul, Katayama, Shintaro, Oghabian, Ali, Jonson, Per Harald, Hackman, Peter, Savarese, Marco, Udd, Bjarne
Published in Communications biology (10.04.2024)
Published in Communications biology (10.04.2024)
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Journal Article
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J, Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B, Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo
Published in Acta neuropathologica communications (21.03.2023)
Published in Acta neuropathologica communications (21.03.2023)
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Journal Article
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking
Swan, Alexander H, Schindler, Roland F R, Savarese, Marco, Mayer, Isabelle, Rinné, Susanne, Bleser, Felix, Schänzer, Anne, Hahn, Andreas, Sabatelli, Mario, Perna, Francesco, Chapman, Kathryn, Pfuhl, Mark, Spivey, Alan C, Decher, Niels, Udd, Bjarne, Tasca, Giorgio, Brand, Thomas
Published in Acta neuropathologica communications (11.07.2023)
Published in Acta neuropathologica communications (11.07.2023)
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Journal Article
GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex
D'Angelo, Giovanni, Prencipe, Libera, Iodice, Luisa, Beznoussenko, Galina, Savarese, Marco, Marra, PierFrancesco, Di Tullio, Giuseppe, Martire, Gianluca, De Matteis, Maria Antonietta, Bonatti, Stefano
Published in The Journal of biological chemistry (11.12.2009)
Published in The Journal of biological chemistry (11.12.2009)
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Journal Article
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients
Baban, Anwar, Cicenia, Marianna, Magliozzi, Monia, Parlapiano, Giovanni, Cirillo, Marco, Pascolini, Giulia, Fattori, Fabiana, Gnazzo, Maria, Bruno, Pasqualina, De Luca, Lorenzo, Di Chiara, Luca, Francalanci, Paola, Udd, Bjarne, Secinaro, Aurelio, Amodeo, Antonio, Bertini, Enrico Silvio, Savarese, Marco, Drago, Fabrizio, Novelli, Antonio
Published in Frontiers in cardiovascular medicine (27.07.2023)
Published in Frontiers in cardiovascular medicine (27.07.2023)
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