Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Gabriel Miltenberger-Miltenyi"'
Autor:
Gabriel Miltenberger-Miltenyi, Roberto A. Ortega, Aloysius Domingo, Rachita Yadav, Ayumi Nishiyama, Deborah Raymond, Viktoriya Katsnelson, Nikita Urval, Matthew Swan, Vicki Shanker, Joan Miravite, Ruth H. Walker, Susan B. Bressman, Laurie J. Ozelius, José C. Cabassa, Rachel Saunders-Pullman
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-J
Externí odkaz:
https://doaj.org/article/5ee46333b7a6487c91382f81069e20b7
Autor:
Margarida Oliveira, Olga Azevedo, Bebiana Faria, Pedro von Hafe, Geraldo Dias, Ricardo Faria, Victor Sanfins, Mário Lourenço, Gabriel Miltenberger-Miltenyi, António Lourenço
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 41, Iss 3, Pp 253-259 (2022)
Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolis
Externí odkaz:
https://doaj.org/article/2ff053aa652d41c28130404ad6d7fc4e
Autor:
Laura López de Frutos, Francisco Almeida, Jessica Murillo-Saich, Vasco A. Conceição, Monica Guma, Oswald Queheberger, Pilar Giraldo, Gabriel Miltenberger-Miltenyi
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10387 (2022)
Alterations in the levels of serum sphingolipids and phospholipids have been reported in Gaucher disease and in Parkinson’s disease, suggesting a potential role of these lipids as biomarkers. This project’s objective is to detect novel associatio
Externí odkaz:
https://doaj.org/article/24bf5c8075ef49bd96b621c246fed39a
Autor:
Olga Azevedo, Nuno Marques, Nuno Craveiro, Ana Rita Pereira, Hugo Antunes, Liliana Reis, Rui Azevedo Guerreiro, Rui Pontes dos Santos, Gabriel Miltenberger-Miltenyi, Nuno Sousa, Damião Cunha
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 38, Iss 10, Pp 709-716 (2019)
Introduction and Aim: It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it
Externí odkaz:
https://doaj.org/article/ae43fa2b292848e09824e8bb9ff2c1b6
Autor:
Sílvia Ribeiro, Luís Coelho, Katerina Puentes, Gabriel Miltenberger‐Miltenyi, Bebiana Faria, Lucy Calvo, João Primo, Víctor Sanfins, António Lourenço
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 38, Iss 7, Pp 503-509 (2019)
Resumo: Em até um terço dos casos de morte súbita, a autópsia médico‐legal é «branca», estando já contemplada nas recomendações internacionais a possibilidade da realização de autópsia molecular. A importância do teste genético post
Externí odkaz:
https://doaj.org/article/5951a74026a34a74b276441f3f650219
Autor:
Gabriel Miltenberger-Miltenyi, Vasco A. Conceição, Marta Gromicho, Ana Catarina Pronto-Laborinho, Susana Pinto, Mamede de Carvalho
Publikováno v:
Annals of Medicine, Vol 53, Iss sup1, Pp S8-S8 (2021)
AbstractIntroduction Respiratory insufficiency is the main cause of death in amyotrophic lateral sclerosis (ALS). As the C9orf72 repeat expansion represents the most common genetic risk factor for this disease, we studied whether C9orf72 modulates re
Externí odkaz:
https://doaj.org/article/f91a20eec8914220a0a1670f2d786bd6
Autor:
Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t
Externí odkaz:
https://doaj.org/article/5ddb85e2ab024e2882a3db291e0ae0d1
Autor:
Olga Azevedo, Filipa Cordeiro, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Catarina Ferreira, Nuno Sousa, Damião Cunha
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4434 (2021)
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosome
Externí odkaz:
https://doaj.org/article/825803197aca44e195559b31ef2be18a
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 1, p 206 (2020)
Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the GLA gene that lead to a deficiency of the enzymatic activity of α-galactosidase A. Available therapies for FD include enzyme replacement therapy (ERT) (agalsidase alfa and
Externí odkaz:
https://doaj.org/article/ff3bf22637544738934c192645801799
Autor:
Dulce Brito, Gabriel Miltenberger-Miltenyi, Sónia Vale Pereira, Doroteia Silva, António Nunes Diogo, Hugo Madeira
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 31, Iss 9, Pp 577-587 (2012)
Background: Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family. The spectrum of disease-causi
Externí odkaz:
https://doaj.org/article/f3b27cf7545a42248844d675e4c9565a