Publications:

---

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: G325S

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

View BVdb publication page

---

Nationwide screening for Fabry disease in unselected stroke patients.

Plos One

Tomek, Aleš A; Petra, Reková R; Paulasová Schwabová, Jaroslava J; Olšerová, Anna A; Škorňa, Miroslav M; Nevšímalová, Miroslava M; Šimůnek, Libor L; Herzig, Roman R; Fafejtová, Štěpánka Š; Mikulenka, Petr P; Táboříková, Alena A; Neumann, Jiří J; Brzezny, Richard R; Sobolová, Helena H; Bartoník, Jan J; Václavík, Daniel D; Vachová, Marta M; Bechyně, Karel K; Havlíková, Hana H; Prax, Tomáš T; Šaňák, Daniel D; Černíková, Irena I; Ondečková, Iva I; Procházka, Petr P; Rajner, Jan J; Škoda, Miroslav M; Novák, Jan J; Škoda, Ondřej O; Bar, Michal M; Mikulík, Robert R; Dostálová, Gabriela G; Linhart, Aleš A; ,

Publication Date: 2021

Variant appearance in text: GLA: 973G>A; G325S

PubMed Link: 34905550

Variant Present in the following documents:

• Main text
• pone.0260601.pdf

View BVdb publication page

---

Nationwide screening for Fabry disease in unselected stroke patients.

Plos One

Tomek, Aleš A; Petra, Reková R; Paulasová Schwabová, Jaroslava J; Olšerová, Anna A; Škorňa, Miroslav M; Nevšímalová, Miroslava M; Šimůnek, Libor L; Herzig, Roman R; Fafejtová, Štěpánka Š; Mikulenka, Petr P; Táboříková, Alena A; Neumann, Jiří J; Brzezny, Richard R; Sobolová, Helena H; Bartoník, Jan J; Václavík, Daniel D; Vachová, Marta M; Bechyně, Karel K; Havlíková, Hana H; Prax, Tomáš T; Šaňák, Daniel D; Černíková, Irena I; Ondečková, Iva I; Procházka, Petr P; Rajner, Jan J; Škoda, Miroslav M; Novák, Jan J; Škoda, Ondřej O; Bar, Michal M; Mikulík, Robert R; Dostálová, Gabriela G; Linhart, Aleš A; ,

Publication Date: 2021

Variant appearance in text: GLA: 973G>A; G325S

PubMed Link: 34905550

Variant Present in the following documents:

• Main text
• pone.0260601.pdf

View BVdb publication page

---

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Journal Of Clinical Medicine

Reková, Petra P; Dostálová, Gabriela G; Kemlink, David D; Paulasová Schwabová, Jaroslava J; Dubská, Zora Z; Vaneckova, Manuela M; Mašek, Martin M; Kodet, Ondřej O; Poupětová, Helena H; Mazurová, Stella S; Rajdova, Aneta A; Vlckova, Eva E; Táboříková, Alena A; Fafejtová, Štěpánka Š; Nevsimalova, Miroslava M; Linhart, Aleš A; Tomek, Aleš A

Publication Date: 2021-08-12

Variant appearance in text: GLA: 973G>A; G325S

PubMed Link: 34441839

Variant Present in the following documents:

• Main text
• jcm-10-03543.pdf

View BVdb publication page

---

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: G325S

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: 973G>A; G325S

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

View BVdb publication page

---

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: G325S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: G325S

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

View BVdb publication page

---

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.

Clinical Pharmacology And Therapeutics

Müntze, Jonas J; Gensler, Daniel D; Maniuc, Octavian O; Liu, Dan D; Cairns, Tereza T; Oder, Daniel D; Hu, Kai K; Lorenz, Kristina K; Frantz, Stefan S; Wanner, Christoph C; Nordbeck, Peter P

Publication Date: 2019-05

Variant appearance in text: GLA: G325S

PubMed Link: 30506669

Variant Present in the following documents:

• CPT-105-1224.pdf

View BVdb publication page

---

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

Journal Of The American Society Of Nephrology : Jasn

Arends, Maarten M; Wanner, Christoph C; Hughes, Derralynn D; Mehta, Atul A; Oder, Daniel D; Watkinson, Oliver T OT; Elliott, Perry M PM; Linthorst, Gabor E GE; Wijburg, Frits A FA; Biegstraaten, Marieke M; Hollak, Carla E CE

Publication Date: 2017-05

Variant appearance in text: GLA: G325S

PubMed Link: 27979989

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2016-05-04

Variant appearance in text: GLA: G325S

PubMed Link: 27142856

Variant Present in the following documents:

View BVdb publication page

---

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: G325S

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

View BVdb publication page

---