Publications:

Pompe disease: pathogenesis, molecular genetics and diagnosis.

Aging

Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G

Publication Date: 2020-08-03

Variant appearance in text: GAA: 2074C>T; Gln692X

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.pdf

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Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Scientific Reports

Aung-Htut, May Thandar MT; Ham, Kristin A KA; Tchan, Michel M; Johnsen, Russell R; Schnell, Frederick J FJ; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2020-04-21

Variant appearance in text: GAA: 2074C>T; Gln692X

PubMed Link: 32317649

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63461.pdf

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Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Genes

Aung-Htut, May T MT; Ham, Kristin A KA; Tchan, Michel C MC; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2020-01-28

Variant appearance in text: GAA: 2074C>T; Gln692X

PubMed Link: 32012848

Variant Present in the following documents:

• Main text
• genes-11-00135.pdf

View BVdb publication page