Rare Association of two Genetic Causes of Sudden Death in a Young Survivor

by Dulce Brito, Andreia Magalhães, Nuno Cortez-Dias, Gabriel Miltenberger-Miltenyi

Novel mutation in the KCNH2 gene associated with long QT syndrome

by Doroteia Silva, Gabriel Miltenberger-Miltenyi, Maria José Correia, António Nunes Diogo
Published 2013-02-01

Novel mutation in the KCNH2 gene associated with long QT syndrome

by Doroteia Silva, Gabriel Miltenberger-Miltenyi, Maria José Correia, António Nunes Diogo
Published 2013-02-01

Fabry Disease Therapy: State-of-the-Art and Current Challenges

by Olga Azevedo, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Nuno Sousa, Damião Cunha
Published 2021-12-01

Cardiac Anderson‐Fabry disease: Lessons from a 25‐year‐follow up

by Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira
Published 2014-04-01

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up

by Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira
Published 2014-04-01

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

by Dulce Brito, Gabriel Miltenberger-Miltenyi, Sónia Vale Pereira, Doroteia Silva, António Nunes Diogo, Hugo Madeira
Published 2012-09-01

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

by Dulce Brito, Gabriel Miltenberger-Miltenyi, Sónia Vale Pereira, Doroteia Silva, António Nunes Diogo, Hugo Madeira
Published 2012-09-01

Fabry Disease and the Heart: A Comprehensive Review

by Olga Azevedo, Filipa Cordeiro, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Catarina Ferreira, Nuno Sousa, Damião Cunha
Published 2021-04-01

Postmortem genetic testing: Clinical diagnosis is not ended by the patient’s death

by Sílvia Ribeiro, Luís Coelho, Katerina Puentes, Gabriel Miltenberger-Miltenyi, Bebiana Faria, Lucy Calvo, João Primo, Víctor Sanfins, António Lourenço
Published 2019-07-01

Teste genético post mortem, o diagnóstico clínico não se esgota com a morte do doente

by Sílvia Ribeiro, Luís Coelho, Katerina Puentes, Gabriel Miltenberger‐Miltenyi, Bebiana Faria, Lucy Calvo, João Primo, Víctor Sanfins, António Lourenço
Published 2019-07-01

Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy

by Cláudia Jorge, João Silva Marques, João Nóbrega, Arminda Veiga, Maria José Correia, António Nunes Diogo, Jorge Cruz, Rita Peralta, Gábriel Miltenberger-Miltényi
Published 2011-12-01

Nova mutação na síndroma de QT Longo em doente com diagnóstico prévio de epilepsia

by Cláudia Jorge, João Silva Marques, Arminda Veiga, João Nóbrega, Jorge Cruz, Rita Peralta, Maria José Correia, João de Sousa, Gábriel Miltenberger-Miltényi, António Nunes Diogo
Published 2011-12-01

Impaired proteostasis contributes to renal tubular dysgenesis.

by Rita Machado de Oliveira, Zrinka Marijanovic, Filipe Carvalho, Gabriel Miltenberger Miltényi, Joana Estevão Matos, Sandra Tenreiro, Sónia Oliveira, Francisco Javier Enguita, Rosário Stone, Tiago Fleming Outeiro
Published 2011-01-01

Screening for Fabry disease in patients with left ventricular noncompaction

by 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
Published 2019-10-01

Screening for Fabry disease in patients with left ventricular noncompaction

by 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
Published 2019-10-01

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

by 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
Published 2020-03-01

Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.

by Raquel Pinho, Leonor C Guedes, Lilach Soreq, Patrícia P Lobo, Tiago Mestre, Miguel Coelho, Mário M Rosa, Nilza Gonçalves, Pauline Wales, Tiago Mendes, Ellen Gerhardt, Christiane Fahlbusch, Vincenzo Bonifati, Michael Bonin, Gabriel Miltenberger-Miltényi, Fran Borovecki, Hermona Soreq, Joaquim J Ferreira, Tiago F Outeiro
Published 2017-01-01

Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.

by Raquel Pinho, Leonor C Guedes, Lilach Soreq, Patrícia P Lobo, Tiago Mestre, Miguel Coelho, Mário M Rosa, Nilza Gonçalves, Pauline Wales, Tiago Mendes, Ellen Gerhardt, Christiane Fahlbusch, Vincenzo Bonifati, Michael Bonin, Gabriel Miltenberger-Miltényi, Fran Borovecki, Hermona Soreq, Joaquim J Ferreira, Tiago F Outeiro
Published 2016-01-01