Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
Author / Creator:Tiziano, Francesco Danilo ; Lomastro, Rosa ; Abiusi, Emanuela ; Pasanisi, Maria Barbara ; Di Pietro, Lorena ; Fiori, Stefania ; Baranello, Giovanni ; Angelini, Corrado ; Sorarù, Gianni ; Gaiani, Alessandra ; Mongini, Tiziana ; Vercelli, Liliana ; Mercuri, Eugenio ; Vasco, Gessica ; Pane, Marika ; Vita, Giuseppe ; Vita, Gianluca ; Messina, Sonia ; Petillo, Roberta ; Passamano, Luigia ; Politano, Luisa ; Campanella, Angela ; Mantegazza, Renato ; Morandi, Lucia
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-05, Vol.56 (5), p.293-300
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature
Author / Creator:Palladino, Alberto ; Passamano, Luigia ; Scutifero, Marianna ; Morra, Salvatore ; Picillo, Esther ; Papa, Andrea Antonio ; Nigro, Gerardo ; Politano, Luisa
Publisher:Caserta: MDPI AG
Journal title:Cardiogenetics, 2024-02, Vol.14 (1), p.38-50
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
Author / Creator:Strafella, Claudia ; Megalizzi, Domenica ; Trastulli, Giulia ; Proietti Piorgo, Emma ; Colantoni, Luca ; Tasca, Giorgio ; Monforte, Mauro ; Zampatti, Stefania ; Primiano, Guido ; Sancricca, Cristina ; Bortolani, Sara ; Torchia, Eleonora ; Ravera, Beatrice ; Torri, Francesca ; Gadaleta, Giulio ; Risi, Barbara ; Caria, Filomena ; Gerardi, Francesca ; Carraro, Elena ; Gioiosa, Valeria ; Garibaldi, Matteo ; Tufano, Laura ; Frezza, Erica ; Massa, Roberto ; Caltagirone, Carlo ; Pennisi, Elena Maria ; Petrucci, Antonio ; Pane, Marika ; Frongia, Annalia ; Gragnani, Francesca ; Scutifero, Marianna ; Mandich, Paola ; Grandis, Marina ; Maioli, Maria Antonietta ; Casali, Carlo ; Manfroi, Elisabetta ; Politano, Luisa ; Passamano, Luigia ; Petillo, Roberta ; Rodolico, Carmelo ; Pugliese, Alessia ; Previtali, Stefano Carlo ; Sansone, Valeria ; Vercelli, Liliana ; Mongini, Tiziana Enrica ; Ricci, Giulia ; Siciliano, Gabriele ; Filosto, Massimiliano ; Ricci, Enzo ; Cascella, Raffaella ; Giardina, Emiliano
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2024-10, Vol.16 (1), p.148-13, Article 148
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Author / Creator:Onore, Maria Elena ; Savarese, Marco ; Picillo, Esther ; Passamano, Luigia ; Nigro, Vincenzo ; Politano, Luisa
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-12, Vol.23 (24), p.15906
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Author / Creator:Viggiano, Emanuela ; Picillo, Esther ; Passamano, Luigia ; Onore, Maria ; Piluso, Giulio ; Scutifero, Marianna ; Torella, Annalaura ; Nigro, Vincenzo ; Politano, Luisa
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (1), p.214
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution
Author / Creator:Palladino, Alberto ; Papa, Andrea Antonio ; Petillo, Roberta ; Scutifero, Marianna ; Morra, Salvatore ; Passamano, Luigia ; Nigro, Vincenzo ; Politano, Luisa
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-01, Vol.13 (2), p.258
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
Author / Creator:Maggi, Lorenzo ; Bello, Luca ; Bonanno, Silvia ; Govoni, Alessandra ; Caponnetto, Claudia ; Passamano, Luigia ; Grandis, Marina ; Trojsi, Francesca ; Cerri, Federica ; Gardani, Alice ; Ferraro, Manfredi ; Gadaleta, Giulio ; Zangaro, Vittoria ; Caumo, Luca ; Maioli, Mariantonietta ; Tanel, Raffaella ; Saccani, Elena ; Meneri, Megi ; Vacchiano, Veria ; Ricci, Giulia ; Sorarù, Gianni ; D'Errico, Eustachio ; Bortolani, Sara ; Pavesi, Giovanni ; Gellera, Cinzia ; Zanin, Riccardo ; Corti, Stefania ; Silvestrini, Mauro ; Politano, Luisa ; Schenone, Angelo ; Previtali, Stefano Carlo ; Berardinelli, Angela ; Turri, Mara ; Verriello, Lorenzo ; Coccia, Michela ; Mantegazza, Renato ; Liguori, Rocco ; Filosto, Massimiliano ; Marrosu, Gianni ; Tiziano, Francesco Danilo ; Siciliano, Gabriele ; Simone, Isabella Laura ; Mongini, Tiziana ; Comi, Giacomo ; Pegoraro, Elena
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2022-12, Vol.93 (12), p.1253-1261
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study
Author / Creator:Tiziano, Francesco D ; Lomastro, Rosa ; Di Pietro, Lorena ; Barbara Pasanisi, Maria ; Fiori, Stefania ; Angelozzi, Carla ; Abiusi, Emanuela ; Angelini, Corrado ; Sorarù, Gianni ; Gaiani, Alessandra ; Mongini, Tiziana ; Vercelli, Liliana ; Vasco, Gessica ; Vita, Giuseppe ; Luca Vita, Gian ; Messina, Sonia ; Politano, Luisa ; Passamano, Luigia ; Di Gregorio, Grazia ; Montomoli, Cristina ; Orsi, Chiara ; Campanella, Angela ; Mantegazza, Renato ; Morandi, Lucia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.630-636
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ReportsFull Text
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Author / Creator:Onore, Maria Elena ; Savarese, Marco ; Picillo, Esther ; Passamano, Luigia ; Nigro, Vincenzo ; Politano, Luisa
Journal title:International journal of molecular sciences, 2022, Vol.23 (24)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ReportsFull Text
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution
Author / Creator:Palladino, Alberto ; Papa, Andrea Antonio ; Petillo, Roberta ; Scutifero, Marianna ; Morra, Salvatore ; Passamano, Luigia ; Nigro, Vincenzo ; Politano, Luisa
Journal title:Genes, 2022, Vol.13 (2)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

Export this record

Export record to excel

Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature

Export this record

Export record to excel

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Export this record

Export record to excel

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Export this record

Export record to excel

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Export this record

Export record to excel

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

Export this record

Export record to excel

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

Export this record

Export record to excel

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Export this record

Export record to excel

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Export this record

Export record to excel

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

Refine your search