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Endocrine, Metabolic & Immune Disorders Drug Targets
|
November 10, 2023
Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy
Marta Ribeiro, Mafalda Rebelo, Andreia Pereira, et al.
The Journal of Cell Biology
|
September 3, 2017
Vps13-Mcp1 interact at vacuole-mitochondria interfaces and bypass ER-mitochondria contact sites
Arun T John Peter, Beatrice Herrmann, Diana Antunes, et al.
Brain & Development
|
February 17, 2017
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations
Marco Duarte, Joana Afonso, Ana Moreira, et al.
Journal of Neurology
|
July 9, 2020
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE
Marta Gromicho, Ana Margarida Coutinho, Ana Catarina Pronto-Laborinho, et al.
European Heart Journal. Case Reports
|
October 3, 2025
Myocarditis or 'hot phase' of arrhythmogenic cardiomyopathy? A case series
André Ferreira, Rita Teixeira, Pedro Brás, et al.
Pediatric Neurology
|
August 10, 2023
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis
Joana Valente Dias, Ana Araújo Carvalho, João Parente Freixo, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
January 4, 2019
Overexpression of branched-chain amino acid aminotransferases rescues the growth defects of cells lacking the Barth syndrome-related gene TAZ1
Diana Antunes, Arpita Chowdhury, Abhishek Aich, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals
Mafalda Melo, Mariana Ribeiro, Paulo Filipe Silva, et al.
Biomedicines
|
March 29, 2023
Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification
André Ferreira, Vera Ferreira, Miguel Marques Antunes, et al.
Contact (Thousand Oaks (Ventura County, Calif.))
|
April 3, 2019
The Endoplasmic Reticulum-Mitochondria Encounter Structure Complex Coordinates Coenzyme Q Biosynthesis
Michal Eisenberg-Bord, Hui S Tsui, Diana Antunes, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Endocrine, Metabolic & Immune Disorders Drug Targets
|
November 10, 2023
Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy
Marta Ribeiro, Mafalda Rebelo, Andreia Pereira, et al.
The Journal of Cell Biology
|
September 3, 2017
Vps13-Mcp1 interact at vacuole-mitochondria interfaces and bypass ER-mitochondria contact sites
Arun T John Peter, Beatrice Herrmann, Diana Antunes, et al.
Brain & Development
|
February 17, 2017
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations
Marco Duarte, Joana Afonso, Ana Moreira, et al.
Journal of Neurology
|
July 9, 2020
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE
Marta Gromicho, Ana Margarida Coutinho, Ana Catarina Pronto-Laborinho, et al.
European Heart Journal. Case Reports
|
October 3, 2025
Myocarditis or 'hot phase' of arrhythmogenic cardiomyopathy? A case series
André Ferreira, Rita Teixeira, Pedro Brás, et al.
Pediatric Neurology
|
August 10, 2023
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis
Joana Valente Dias, Ana Araújo Carvalho, João Parente Freixo, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
January 4, 2019
Overexpression of branched-chain amino acid aminotransferases rescues the growth defects of cells lacking the Barth syndrome-related gene TAZ1
Diana Antunes, Arpita Chowdhury, Abhishek Aich, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals
Mafalda Melo, Mariana Ribeiro, Paulo Filipe Silva, et al.
Biomedicines
|
March 29, 2023
Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification
André Ferreira, Vera Ferreira, Miguel Marques Antunes, et al.
Contact (Thousand Oaks (Ventura County, Calif.))
|
April 3, 2019
The Endoplasmic Reticulum-Mitochondria Encounter Structure Complex Coordinates Coenzyme Q Biosynthesis
Michal Eisenberg-Bord, Hui S Tsui, Diana Antunes, et al.
Page
of 2