Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Keyphrases

Publications

volume 43, number 1, 2024

Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Corrado Angelini, Alicia Aurora Rodríguez
Assessment of the quality of life in patients with LGMD. The case of transportinopathy. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Fatigue in Spinal Muscular Atrophy: a fundamental open issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Fatigue in Spinal Muscular Atrophy: a fundamental open issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Corrado Angelini, Alicia Aurora Rodríguez
Assessment of the quality of life in patients with LGMD. The case of transportinopathy. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Fatigue in Spinal Muscular Atrophy: a fundamental open issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (1) (2024)

volume 43, number 2, 2024

Anna Annunziata, Giuseppe Fiorentino
Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Tiina Maarit Andersen, Lee Bolton, Michel Toussaint
Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax
Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Tiina Maarit Andersen, Lee Bolton, Michel Toussaint
Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Anna Annunziata, Giuseppe Fiorentino
Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Anna Annunziata, Giuseppe Fiorentino
Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci
Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax
Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci
Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Pierre Singer
Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci
Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax
Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Pierre Singer
Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Tiina Maarit Andersen, Lee Bolton, Michel Toussaint
Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Pierre Singer
Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)
Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 43 (2) (2024)

volume 42, number 1, 2023

Eliana Iannibelli, Sara Gibertini, Marta Cheli, Flavia Blasevich, Andrea Cavaliere, Giorgia Riolo, Alessandra Ruggieri, Lorenzo Maggi
VCP-related myopathy: a case series and a review of literature. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (1) (2023)
Mehdi Ghasemi, Kristy Poulliot, Kate M Daniello, Brian Silver
Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (1) (2023)
Eliana Iannibelli, Sara Gibertini, Marta Cheli, Flavia Blasevich, Andrea Cavaliere, Giorgia Riolo, Alessandra Ruggieri, Lorenzo Maggi
VCP-related myopathy: a case series and a review of literature. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (1) (2023)

volume 42, number 2-3, 2023

Maria Rosaria Valentino, Anna Annunziata, Lidia Atripaldi, Giuseppe Fiorentino
An unusual way to improve lung function in congenital myopathies: the power of singing. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Afshan Zeeshan Wasti, Amal M H Mackawy, Amal Hussain, Mohsina Huq, Hanane Ahmed, Anjuman Gul Memon
Fibromyalgia interventions, obstacles and prospects: narrative review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Laura Carraro, Arianna Iosca, Maria Irene Dainesi, Sara Fusco, Daniela Pia Rosaria Chieffo, Federica Moriconi, Giulia d'Amario, Marika Pane, Eugenio Mercuri, Angela Berardinelli
Cognitive function in DMD carriers: personal case series and literature review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Roberta Piera Bencivenga, Dario Zoppi, Anna Russo, Emanuele Cassano, Stefano Tozza, Rosa Iodice, Raffaele Dubbioso, Fiore Manganelli, Lucia Ruggiero
Pregnancy experience in women with spinal muscular atrophy: a case series. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Cyprian Popescu
Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone
Sequential treatment with nusinersen, Zolgensma ® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Giulia Ricci, Francesca Torri, Alessandra Govoni, Roberto Chiappini, Laura Manca, Gabriele Vadi, Stefano Roccella, Francesca Magri, Megi Meneri, Federica Fassini, Veria Vacchiano, Silvia Tomassini, Noemi Gironella, Michela Coccia, Giacomo Comi, Rocco Liguori, Gabriele Siciliano
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)
Constantin-Cristian Topriceanu, Mashael Alfarih, Alun D Hughes, Hunain Shiwani, Fiona Chan, Saidi A Mohiddin, William Moody, Richard P Steeds, Benjamin O'Brien, Jakob Vowinckel, Petros Syrris, Caroline Coats, Stephen Pettit, Eloisa Arbustini, James C Moon, Gabriella Captur
The atrial and ventricular myocardial proteome of end-stage lamin heart disease. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (2-3) (2023)

volume 42, number 4, 2023

Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Rafaela Owusu, Marco Savarese
Long-read sequencing improves diagnostic rate in neuromuscular disorders. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Kadalraja Raghavan, Thanasekar Sivakumar, Koji Ichiyama, Naoki Yamamoto, Mangaleswaran Balamurugan, Vidyasagar Devaprasad Dedeepiya, Rajappa Senthilkumar, Senthilkumar Preethy, Samuel Jk Abraham
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Kadalraja Raghavan, Thanasekar Sivakumar, Koji Ichiyama, Naoki Yamamoto, Mangaleswaran Balamurugan, Vidyasagar Devaprasad Dedeepiya, Rajappa Senthilkumar, Senthilkumar Preethy, Samuel Jk Abraham
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Rafaela Owusu, Marco Savarese
Long-read sequencing improves diagnostic rate in neuromuscular disorders. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)
Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 42 (4) (2023)