Publications

Authors:

Ravaglia, Sabrina; Malovini, Alberto; Cirio, Serena; Danesino, Cesare; de Filippi, Paola; Moggio, Maurizio; Mongini, Tiziana; Maggi, Lorenzo; Servidei, Serena; Vianello, Andrea; Toscano, Antonio; Tonin, Paola; Maioli, Maria Antonietta; Parini, Rossella; Filosto, Massimiliano; Crescimanno, Grazia; Arceri, Sebastiano; Piran, Manuela; Carlucci, Annalisa

Title:

Polymorphism in exercise genes and respiratory function in Late Onset Pompe Disease (LOPD)

Year:

2021

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

JOURNAL OF APPLIED PHYSIOLOGY

ISSN of journal:

8750-7587

N° Volume:

31

Number or Folder:

6

:

American Physiological Society:9650 Rockville Pike:Bethesda, MD 20814:(301)530-7180, EMAIL: subscrip@the-aps.org, INTERNET: http://www.the-aps.org, Fax: (301)571-8313

Page numbers:

1762-1771

Keyword:

FVC postural drop; Pompe Disease; genetic polymoprphisms; modifier genes; respiratory function

Short description of contents:

Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in LOPD. We stratified patients with comparable age and disease duration according to the severity of their respiratory phenotype, assessed by both upright FVC% and postural drop in FVC%.

Web page:

https://doi.org/10.1152/japplphysiol.00154.2020

Product ID:

123565

Handle IRIS:

11562/1053222

Last Modified:

November 15, 2022

Bibliographic citation:

Ravaglia, Sabrina; Malovini, Alberto; Cirio, Serena; Danesino, Cesare; de Filippi, Paola; Moggio, Maurizio; Mongini, Tiziana; Maggi, Lorenzo; Servidei, Serena; Vianello, Andrea; Toscano, Antonio; Tonin, Paola; Maioli, Maria Antonietta; Parini, Rossella; Filosto, Massimiliano; Crescimanno, Grazia; Arceri, Sebastiano; Piran, Manuela; Carlucci, Annalisa, Polymorphism in exercise genes and respiratory function in Late Onset Pompe Disease (LOPD) «JOURNAL OF APPLIED PHYSIOLOGY» , vol. 31 , n. 6 , 2021 , pp. 1762-1771

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