Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: GLA: 188G>A

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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X-chromosomal inactivation patterns in women with Fabry disease.

Molecular Genetics & Genomic Medicine

Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N

Publication Date: 2022-09

Variant appearance in text: GLA: C63Y

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

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Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal Of Neurology

Simoncini, C C; Torri, S S; Montano, V V; Chico, L L; Gruosso, F F; Tuttolomondo, A A; Pinto, A A; Simonetta, I I; Cianci, V V; Salviati, A A; Vicenzi, V V; Marchi, G G; Girelli, D D; Concolino, D D; Sestito, S S; Zedde, M M; Siciliano, G G; Mancuso, Michelangelo M

Publication Date: 2020-12

Variant appearance in text: GLA: Cys63Tyr

PubMed Link: 32719972

Variant Present in the following documents:

• Main text
• 415_2020_Article_10044.pdf

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Second-Generation Pharmacological Chaperones: Beyond Inhibitors.

Molecules (Basel, Switzerland)

Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2020-07-09

Variant appearance in text: GLA: C63Y

PubMed Link: 32660097

Variant Present in the following documents:

• Main text
• molecules-25-03145.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 188G>A; C63Y

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease.

Journal Of Ophthalmology

Sodi, Andrea A; Lenzetti, Chiara C; Bacherini, Daniela D; Finocchio, Lucia L; Verdina, Tommaso T; Borg, Isabella I; Cipollini, Francesca F; Patwary, Fatema Ullah FU; Tanini, Ilaria I; Zoppetti, Claudia C; Rizzo, Stanislao S; Virgili, Gianni G

Publication Date: 2019

Variant appearance in text: GLA: Cys63Tyr

PubMed Link: 31093369

Variant Present in the following documents:

• Main text
• JOPH2019-4696429.pdf

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.

Plos One

Citro, Valentina V; Peña-García, Jorge J; den-Haan, Helena H; Pérez-Sánchez, Horacio H; Del Prete, Rosita R; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016

Variant appearance in text: GLA: C63Y

PubMed Link: 27788225

Variant Present in the following documents:

• Main text
• pone.0165463.pdf

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: C63Y

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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