GUGLIELMI, Valeria
GUGLIELMI, Valeria
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture
2019-01-01 Pancheri, Elia; Bozzetti, Silvia; Rimessi, Paola; Macchione, Francesco; Barillari, Marco; Venturoli, Anna; Guglielmi, Valeria; Fortunato, Fernanda; Tonin, Paola; Vattemi, Gaetano
Abnormal expression of RNA polymerase II associated proteins in muscle of patients with myofibrillar myopathies.
2015-01-01 Guglielmi, Valeria; Marini, Matteo; Masson, É. F.; Malatesta, Manuela; D., . Forget; Tomelleri, Giuliano; Coulombe, B.; Vattemi, Gaetano Nicola
Acute sarcomeric M-Line Disease associated with ATP synthase subunit α autoantibodies in ankylosing spondylitis
2018-01-01 Guglielmi, Valeria; Vattemi, Gaetano; Cecconi, Daniela; Fracasso, Giulio; Marini, Matteo; Tomelleri, Giuliano
Autophagy, inflammation and innate immunity in inflammatory myopathies.
2014-01-01 Cappelletti, C.; Galbardi, B.; Kapetis, D.; Vattemi, Gaetano Nicola; Guglielmi, Valeria; Tonin, Paola; Salerno, F.; Morandi, L.; Tomelleri, Giuliano; Mantegazza, R.; Bernasconi, P.
Benign acute viral myositis in African migrants: a clinical, serological and pathological study.
2019-01-01 Pancheri, Elia; Lanzafame, Massimiliano; Zamò, Alberto; Angheben, Andrea; Sartoris, Silvia; Zorzi, Antonella; Boaretti, Marzia; Signoretto, Caterina; Guglielmi, Valeria; Ferrari, Sergio; Tonin, Paola; Vattemi, Gaetano
Biochemical features of SERCA1 in Brody disease and identication of candidate genes in Brody syndrome
2013-01-01 Guglielmi, Valeria
Bortezomib-induced muscle toxicity in multiple myeloma
2017-01-01 Guglielmi, Valeria; Nowis, Dominika; Tinelli, Martina; Malatesta, Manuela; Paoli, Laura; Marini, Matteo; Manganotti, Paolo; Sadowski, Radoslaw; Wilczynski, Grzegorz M.; Meneghini, Vittorio; Tomelleri, Giuliano; Vattemi, Gaetano Nicola
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation.
2010-01-01 Vattemi, Gaetano Nicola; Gualandi, F.; Oosterhof, A.; Marini, Matteo; Tonin, Paola; Rimessi, P.; Neri, M.; Guglielmi, Valeria; Russignan, Anna; Poli, C.; van Kuppevelt, T. H.; Ferlini, A.; Tomelleri, Giuliano
Brody syndrome: A clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients.
2012-01-01 Voermans, N. C.; Laan, A. E.; Oosterhof, A.; van Kuppevelt, T. H.; Drost, G.; Lammens, M.; Kamsteeg, E. J.; Scotton, C.; Gualandi, F.; Guglielmi, Valeria; van den Heuvel, L.; Vattemi, Gaetano Nicola; van Engelen, B. G.
Calpain 3 deficiency presenting as fiber type disproportion.
2009-01-01 Vattemi, Gaetano Nicola; Tonin, Paola; Neri, M.; Marini, Matteo; Gualandi, F.; Guglielmi, Valeria; Ferlini, A.; Tomelleri, Giuliano
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy
2016-01-01 Guglielmi, Valeria; Oosterhof, A.; Voermans, N. C.; Cardani, R.; Molenaar, J. P.; van Kuppevelt, T. H.; Meola, G.; van Engelen, B. G.; Tomelleri, Giuliano; Vattemi, Gaetano Nicola
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation
2020-01-01 Chinello, Matteo; Balter, Rita; De Bortoli, Massimiliano; Vitale, Virginia; Zaccaron, Ada; Bonetti, Elisa; Tonin, Paola; Vattemi, Gaetano; Guglielmi, Valeria; Cesaro, Simone
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
2020-01-01 Molenaar, Joery P; Verhoeven, Jamie I; Rodenburg, Richard J; Kamsteeg, Erik J; Erasmus, Corrie E; Vicart, Savine; Behin, Anthony; Bassez, Guillaume; Magot, Armelle; Péréon, Yann; Brandom, Barbara W; Guglielmi, Valeria; Vattemi, Gaetano; Chevessier, Frédéric; Mathieu, Jean; Franques, Jérôme; Suetterlin, Karen; Hanna, Michael G; Guyant-Marechal, Lucie; Snoeck, Marc M; Roberts, Mark E; Kuntzer, Thierry; Fernandez-Torron, Roberto; Martínez-Arroyo, Amaia; Seeger, Juergen; Kusters, Benno; Treves, Susan; van Engelen, Baziel G; Eymard, Bruno; Voermans, Nicol C; Sternberg, Damien
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
2011-01-01 Vattemi, Gaetano Nicola; Neri, M.; Piffer, S.; Vicart, P.; Gualandi, F.; Marini, Matteo; Guglielmi, Valeria; Filosto, M.; Tonin, Paola; Ferlini, A.; Tomelleri, Giuliano
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases.
2012-01-01 Minuz, Pietro; Fava, Cristiano; Vattemi, Gaetano Nicola; Arcaro, G.; Riccadonna, Matteo; Tonin, Paola; Meneguzzi, Alessandra; Degan, Maurizio; Guglielmi, Valeria; Lechi, Alessandro; Tomelleri, Giuliano
Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders
2016-01-01 Guglielmi, Valeria; Vattemi, Gaetano Nicola; Chignola, Roberto; Chiarini, Anna Maria; Marini, Matteo; DAL PRÀ, Ilaria Pierpaola; DI CHIO, Marzia; Chiamulera, Cristiano; Armato, Ubaldo; Tomelleri, Giuliano
Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
2018-01-01 Guglielmi, Valeria; Voermans, N. C; Oosterhof, A; Nowis, D; van Engelen, B. G; Tomelleri, Giuliano; Vattemi, Gaetano Nicola
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1
2021-01-01 Ticci, Chiara; Cassandrini, Denise; Rubegni, Anna; Riva, Beatrice; Vattemi, Gaetano; Matà, Sabrina; Ricci, Giulia; Baldacci, Jacopo; Guglielmi, Valeria; Di Muzio, Antonio; Malandrini, Alessandro; Tonin, Paola; Siciliano, Gabriele; Federico, Antonio; Genazzani, Armando A; Santorelli, Filippo Maria; Merlini, Luciano
Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish
2023-01-01 Cannone, Elena; Guglielmi, Valeria; Marchetto, Giulia; Tobia, Chiara; Gnutti, Barbara; Cisterna, Barbara; Tonin, Paola; Barbon, Alessandro; Vattemi, Gaetano; Schiavone, Marco
Immunoblot as a potential diagnostic tool for myofibrillar myopathies
2015-01-01 Marini, Matteo; Guglielmi, Valeria; Faulkner, Georgine; Piffer, Silvio; Tomelleri, Giuliano; Vattemi, Gaetano Nicola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture | 1-gen-2019 | Pancheri, Elia; Bozzetti, Silvia; Rimessi, Paola; Macchione, Francesco; Barillari, Marco; Venturoli, Anna; Guglielmi, Valeria; Fortunato, Fernanda; Tonin, Paola; Vattemi, Gaetano | |
| Abnormal expression of RNA polymerase II associated proteins in muscle of patients with myofibrillar myopathies. | 1-gen-2015 | Guglielmi, Valeria; Marini, Matteo; Masson, É. F.; Malatesta, Manuela; D., . Forget; Tomelleri, Giuliano; Coulombe, B.; Vattemi, Gaetano Nicola | |
| Acute sarcomeric M-Line Disease associated with ATP synthase subunit α autoantibodies in ankylosing spondylitis | 1-gen-2018 | Guglielmi, Valeria; Vattemi, Gaetano; Cecconi, Daniela; Fracasso, Giulio; Marini, Matteo; Tomelleri, Giuliano | |
| Autophagy, inflammation and innate immunity in inflammatory myopathies. | 1-gen-2014 | Cappelletti, C.; Galbardi, B.; Kapetis, D.; Vattemi, Gaetano Nicola; Guglielmi, Valeria; Tonin, Paola; Salerno, F.; Morandi, L.; Tomelleri, Giuliano; Mantegazza, R.; Bernasconi, P. | |
| Benign acute viral myositis in African migrants: a clinical, serological and pathological study. | 1-gen-2019 | Pancheri, Elia; Lanzafame, Massimiliano; Zamò, Alberto; Angheben, Andrea; Sartoris, Silvia; Zorzi, Antonella; Boaretti, Marzia; Signoretto, Caterina; Guglielmi, Valeria; Ferrari, Sergio; Tonin, Paola; Vattemi, Gaetano | |
| Biochemical features of SERCA1 in Brody disease and identication of candidate genes in Brody syndrome | 1-gen-2013 | Guglielmi, Valeria | |
| Bortezomib-induced muscle toxicity in multiple myeloma | 1-gen-2017 | Guglielmi, Valeria; Nowis, Dominika; Tinelli, Martina; Malatesta, Manuela; Paoli, Laura; Marini, Matteo; Manganotti, Paolo; Sadowski, Radoslaw; Wilczynski, Grzegorz M.; Meneghini, Vittorio; Tomelleri, Giuliano; Vattemi, Gaetano Nicola | |
| Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. | 1-gen-2010 | Vattemi, Gaetano Nicola; Gualandi, F.; Oosterhof, A.; Marini, Matteo; Tonin, Paola; Rimessi, P.; Neri, M.; Guglielmi, Valeria; Russignan, Anna; Poli, C.; van Kuppevelt, T. H.; Ferlini, A.; Tomelleri, Giuliano | |
| Brody syndrome: A clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients. | 1-gen-2012 | Voermans, N. C.; Laan, A. E.; Oosterhof, A.; van Kuppevelt, T. H.; Drost, G.; Lammens, M.; Kamsteeg, E. J.; Scotton, C.; Gualandi, F.; Guglielmi, Valeria; van den Heuvel, L.; Vattemi, Gaetano Nicola; van Engelen, B. G. | |
| Calpain 3 deficiency presenting as fiber type disproportion. | 1-gen-2009 | Vattemi, Gaetano Nicola; Tonin, Paola; Neri, M.; Marini, Matteo; Gualandi, F.; Guglielmi, Valeria; Ferlini, A.; Tomelleri, Giuliano | |
| Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy | 1-gen-2016 | Guglielmi, Valeria; Oosterhof, A.; Voermans, N. C.; Cardani, R.; Molenaar, J. P.; van Kuppevelt, T. H.; Meola, G.; van Engelen, B. G.; Tomelleri, Giuliano; Vattemi, Gaetano Nicola | |
| Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation | 1-gen-2020 | Chinello, Matteo; Balter, Rita; De Bortoli, Massimiliano; Vitale, Virginia; Zaccaron, Ada; Bonetti, Elisa; Tonin, Paola; Vattemi, Gaetano; Guglielmi, Valeria; Cesaro, Simone | |
| Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients | 1-gen-2020 | Molenaar, Joery P; Verhoeven, Jamie I; Rodenburg, Richard J; Kamsteeg, Erik J; Erasmus, Corrie E; Vicart, Savine; Behin, Anthony; Bassez, Guillaume; Magot, Armelle; Péréon, Yann; Brandom, Barbara W; Guglielmi, Valeria; Vattemi, Gaetano; Chevessier, Frédéric; Mathieu, Jean; Franques, Jérôme; Suetterlin, Karen; Hanna, Michael G; Guyant-Marechal, Lucie; Snoeck, Marc M; Roberts, Mark E; Kuntzer, Thierry; Fernandez-Torron, Roberto; Martínez-Arroyo, Amaia; Seeger, Juergen; Kusters, Benno; Treves, Susan; van Engelen, Baziel G; Eymard, Bruno; Voermans, Nicol C; Sternberg, Damien | |
| Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. | 1-gen-2011 | Vattemi, Gaetano Nicola; Neri, M.; Piffer, S.; Vicart, P.; Gualandi, F.; Marini, Matteo; Guglielmi, Valeria; Filosto, M.; Tonin, Paola; Ferlini, A.; Tomelleri, Giuliano | |
| Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. | 1-gen-2012 | Minuz, Pietro; Fava, Cristiano; Vattemi, Gaetano Nicola; Arcaro, G.; Riccadonna, Matteo; Tonin, Paola; Meneguzzi, Alessandra; Degan, Maurizio; Guglielmi, Valeria; Lechi, Alessandro; Tomelleri, Giuliano | |
| Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders | 1-gen-2016 | Guglielmi, Valeria; Vattemi, Gaetano Nicola; Chignola, Roberto; Chiarini, Anna Maria; Marini, Matteo; DAL PRÀ, Ilaria Pierpaola; DI CHIO, Marzia; Chiamulera, Cristiano; Armato, Ubaldo; Tomelleri, Giuliano | |
| Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome | 1-gen-2018 | Guglielmi, Valeria; Voermans, N. C; Oosterhof, A; Nowis, D; van Engelen, B. G; Tomelleri, Giuliano; Vattemi, Gaetano Nicola | |
| Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 | 1-gen-2021 | Ticci, Chiara; Cassandrini, Denise; Rubegni, Anna; Riva, Beatrice; Vattemi, Gaetano; Matà, Sabrina; Ricci, Giulia; Baldacci, Jacopo; Guglielmi, Valeria; Di Muzio, Antonio; Malandrini, Alessandro; Tonin, Paola; Siciliano, Gabriele; Federico, Antonio; Genazzani, Armando A; Santorelli, Filippo Maria; Merlini, Luciano | |
| Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish | 1-gen-2023 | Cannone, Elena; Guglielmi, Valeria; Marchetto, Giulia; Tobia, Chiara; Gnutti, Barbara; Cisterna, Barbara; Tonin, Paola; Barbon, Alessandro; Vattemi, Gaetano; Schiavone, Marco | |
| Immunoblot as a potential diagnostic tool for myofibrillar myopathies | 1-gen-2015 | Marini, Matteo; Guglielmi, Valeria; Faulkner, Georgine; Piffer, Silvio; Tomelleri, Giuliano; Vattemi, Gaetano Nicola |