Publications:

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: N/A

PubMed Link: 34078906

Variant Present in the following documents:

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

Molecular Therapy. Methods & Clinical Development

Buratti, Emanuele E; Peruzzo, Paolo P; Braga, Luca L; Zanin, Irene I; Stuani, Cristiana C; Goina, Elisa E; Romano, Maurizio M; Giacca, Mauro M; Dardis, Andrea A

Publication Date: 2021-03-12

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 33426149

Variant Present in the following documents:

• Main text
• main.pdf
• mmc4.pdf

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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The missing puzzle piece: splicing mutations.

International Journal Of Clinical And Experimental Pathology

Lewandowska, Marzena A MA

Publication Date: 2013

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 24294354

Variant Present in the following documents:

• Main text

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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

European Journal Of Human Genetics : Ejhg

Zampieri, Stefania S; Buratti, Emanuele E; Dominissini, Silvia S; Montalvo, Anna Lisa AL; Pittis, Maria Gabriela MG; Bembi, Bruno B; Dardis, Andrea A

Publication Date: 2011-04

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 21179066

Variant Present in the following documents:

• Main text

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Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Pathogenetics

Cardone, Monica M; Porto, Caterina C; Tarallo, Antonietta A; Vicinanza, Mariella M; Rossi, Barbara B; Polishchuk, Elena E; Donaudy, Francesca F; Andria, Generoso G; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G

Publication Date: 2008-12-01

Variant appearance in text: GAA: 692+1G>C

PubMed Link: 19046416

Variant Present in the following documents:

• Main text
• 1755-8417-1-6.pdf

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