Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: Q279K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences

Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P

Publication Date: 2018-11-23

Variant appearance in text: GLA: Q279K

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Immune-Mediated Myocarditis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Frustaci, Andrea A; Verardo, Romina R; Grande, Claudia C; Galea, Nicola N; Piselli, Pierluca P; Carbone, Iacopo I; Alfarano, Maria M; Russo, Matteo Antonio MA; Chimenti, Cristina C

Publication Date: 2018-09-04

Variant appearance in text: GLA: Q279k

PubMed Link: 30371172

Variant Present in the following documents:

• Main text

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Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Plos One

Ravarotto, Verdiana V; Carraro, Gianni G; Pagnin, Elisa E; Bertoldi, Giovanni G; Simioni, Francesca F; Maiolino, Giuseppe G; Martinato, Matteo M; Landini, Linda L; Davis, Paul A PA; Calò, Lorenzo A LA

Publication Date: 2018

Variant appearance in text: GLA: 835C>A

PubMed Link: 30261035

Variant Present in the following documents:

• Main text
• pone.0204618.pdf

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Plos One

Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V

Publication Date: 2017

Variant appearance in text: GLA: 835C>A; Q279K

PubMed Link: 28672034

Variant Present in the following documents:

• Main text
• pone.0180581.pdf

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