Publications:

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Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Life (Basel, Switzerland)

Gatterer, Constantin C; Beitzke, Dietrich D; Graf, Senta S; Lenz, Max M; Sunder-Plassmann, Gere G; Mann, Christopher C; Ponleitner, Markus M; Manka, Robert R; Fritschi, Daniel D; Krayenbuehl, Pierre-Alexandre PA; Kamm, Philipp P; Dormond, Olivier O; Barbey, Frédéric F; Monney, Pierre P; Nowak, Albina A

Publication Date: 2023-05-19

Variant appearance in text: GLA: 125T>C; M42T

PubMed Link: 37240859

Variant Present in the following documents:

• Main text
• life-13-01213.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GLA: 125T>C; Met42Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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COVID-19 in Fabry disease: a reference center prospective study.

Orphanet Journal Of Rare Diseases

Bothou, Christina C; Saleh, Lanja L; von Eckardstein, Arnold A; Beuschlein, Felix F; Nowak, Albina A

Publication Date: 2022-06-28

Variant appearance in text: GLA: M42T

PubMed Link: 35765080

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2386.pdf

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Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.

Journal Of Clinical Medicine

Wiest, Maximilian Robert Justus MRJ; Toro, Mario Damiano MD; Nowak, Albina A; Baur, Joel J; Fasler, Katrin K; Hamann, Timothy T; Al-Sheikh, Mayss M; Zweifel, Sandrine Anne SA

Publication Date: 2021-03-05

Variant appearance in text: GLA: 125T>C

PubMed Link: 33807900

Variant Present in the following documents:

• jcm-10-01093.pdf

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Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Journal Of Medical Genetics

Nowak, Albina A; Beuschlein, Felix F; Sivasubramaniam, Visnuka V; Kasper, David D; Warnock, David G DG

Publication Date: 2022-03

Variant appearance in text: GLA: 125T>C; M42T

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.pdf

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: M42T

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.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: 125T>C; M42T

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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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: M42T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Bmj Open Respiratory Research

Franzen, Daniel D; Haile, Sarah R SR; Kasper, David C DC; Mechtler, Thomas P TP; Flammer, Andreas J AJ; Krayenbühl, Pierre A PA; Nowak, Albina A

Publication Date: 2018

Variant appearance in text: GLA: 125T>C; M42T

PubMed Link: 29713479

Variant Present in the following documents:

• bmjresp-2018-000277supp001.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: M42T

PubMed Link: 27788225

Variant Present in the following documents:

• Main text

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: M42T

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: M42T

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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