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1 . Academic Journal
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
저자
by
Alberto Palladino
;
Luigia Passamano
;
Marianna Scutifero
;
Salvatore Morra
;
Esther Picillo
, et al.
소스
Cardiogenetics, Vol 14, Iss 1, Pp 38-50 (2024)
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7 . Academic Journal
Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review
저자
by
Luisa Politano
.
소스
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5289 (2024)
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Web of Science
Scopus
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3 . Academic Journal
Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report
저자
by
Maria Elena Onore
;
Esther Picillo
;
Paola D’Ambrosio
;
Salvatore Morra
;
Vincenzo Nigro
, et al.
소스
Biomolecules, Vol 14, Iss 4, p 507 (2024)
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7 . Academic Journal
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
저자
by
Paola De Filippi
;
Edoardo Errichiello
;
Antonio Toscano
;
Tiziana Mongini
;
Maurizio Moggio
, et al.
소스
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
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7 . Academic Journal
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
저자
by
Luigia Cinque
;
Flavia Pugliese
;
Antonio Stefano Salcuni
;
Domenico Trombetta
;
Claudia Battista
, et al.
소스
Frontiers in Endocrinology, Vol 14 (2023)
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7 . Academic Journal
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
저자
by
Annalaura Torella
;
Alberto Budillon
;
Mariateresa Zanobio
;
Francesca Del Vecchio Blanco
;
Esther Picillo
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9241 (2023)
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7 . Academic Journal
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
저자
by
Claudia Brogna
;
Marika Pane
;
Giorgia Coratti
;
Adele D’Amico
;
Elena Pegoraro
, et al.
소스
Children, Vol 10, Iss 4, p 746 (2023)
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7 . Academic Journal
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue
저자
by
Luisa Politano
;
Filippo M. Santorelli
.
소스
Genes, Vol 14, Iss 4, p 926 (2023)
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4 . Academic Journal
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
저자
by
Emanuela Viggiano
;
Esther Picillo
;
Luigia Passamano
;
Maria Elena Onore
;
Giulio Piluso
, et al.
소스
Genes, Vol 14, Iss 1, p 214 (2023)
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7 . Academic Journal
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
저자
by
Maria Elena Onore
;
Marco Savarese
;
Esther Picillo
;
Luigia Passamano
;
Vincenzo Nigro
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15906 (2022)
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