Publications:

---

Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis.

Biology

Ruiz Ramírez, Andrea Virginia AV; Prado Montes de Oca, Ernesto E; Figuera, Luis E LE

Publication Date: 2022-08-30

Variant appearance in text: GLA: Ile239Met

PubMed Link: 36138766

Variant Present in the following documents:

• biology-11-01287.pdf

View BVdb publication page

---

Prevalence of Fabry Disease among Patients with Parkinson's Disease.

Parkinson'S Disease

Lackova, Alexandra A; Beetz, Christian C; Oppermann, Sebastian S; Bauer, Peter P; Pavelekova, Petra P; Lorincova, Tatiana T; Ostrozovicova, Miriam M; Kulcsarova, Kristina K; Cobejova, Jana J; Cobej, Martin M; Levicka, Petra P; Liesenerova, Simona S; Sendekova, Daniela D; Sukovska, Viktoria V; Gdovinova, Zuzana Z; Han, Vladimir V; Rizig, Mie M; Houlden, Henry H; Skorvanek, Matej M

Publication Date: 2022

Variant appearance in text: GLA: Ile239Met

PubMed Link: 35111290

Variant Present in the following documents:

• PD2022-1014950.pdf

View BVdb publication page

---

Fabry Disease and the Heart: A Comprehensive Review.

International Journal Of Molecular Sciences

Azevedo, Olga O; Cordeiro, Filipa F; Gago, Miguel Fernandes MF; Miltenberger-Miltenyi, Gabriel G; Ferreira, Catarina C; Sousa, Nuno N; Cunha, Damião D

Publication Date: 2021-04-23

Variant appearance in text: GLA: I239M

PubMed Link: 33922740

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International Journal Of Molecular Sciences

Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2021-01-29

Variant appearance in text: GLA: Ile239Met

PubMed Link: 33572752

Variant Present in the following documents:

• Main text
• ijms-22-01331.pdf

View BVdb publication page

---

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

International Journal Of Genomics

Cheng, Liting L; Li, Xiaoyan X; Zhao, Lin L; Wang, Zefeng Z; Zhang, Junmeng J; Liang, Zhuo Z; Wu, Yongquan Y

Publication Date: 2020

Variant appearance in text: GLA: Ile239Met

PubMed Link: 32211440

Variant Present in the following documents:

• IJG2020-2415850.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: I239M

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?

Arquivos Brasileiros De Cardiologia

Bittencourt, Marcelo Imbroinise MI

Publication Date: 2019-08-08

Variant appearance in text: GLA: Ile239Met

PubMed Link: 31411295

Variant Present in the following documents:

• Main text
• abc-113-01-0085.pdf

View BVdb publication page

---

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Arquivos Brasileiros De Cardiologia

Chaves-Markman, Ândrea Virgínia ÂV; Markman, Manuel M; Calado, Eveline Barros EB; Pires, Ricardo Flores RF; Santos-Veloso, Marcelo Antônio Oliveira MAO; Pereira, Catarina Maria Fonseca CMF; Lordsleem, Andréa Bezerra de Melo da Silveira ABMDS; Lima, Sandro Gonçalves de SG; Markman Filho, Brivaldo B; Oliveira, Dinaldo Cavalcanti de DC

Publication Date: 2019-07-10

Variant appearance in text: GLA: Ile239Met

PubMed Link: 31291414

Variant Present in the following documents:

• abc-113-01-0077.pdf

View BVdb publication page

---

Advances in pediatrics in 2017: current practices and challenges in allergy, endocrinology, gastroenterology, genetics, immunology, infectious diseases, neonatology, nephrology, neurology, pulmonology from the perspective of Italian Journal of Pediatrics.

Italian Journal Of Pediatrics

Caffarelli, Carlo C; Santamaria, Francesca F; Di Mauro, Dora D; Mastrorilli, Carla C; Montella, Silvia S; Tchana, Bertrand B; Valerio, Giuliana G; Verrotti, Alberto A; Valenzise, Mariella M; Bernasconi, Sergio S; Corsello, Giovanni G

Publication Date: 2018-07-17

Variant appearance in text: GLA: Ile239Met

PubMed Link: 30016966

Variant Present in the following documents:

• 13052_2018_Article_524.pdf

View BVdb publication page

---