Publications by authors named "Jorge D Da Silva"

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FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.
Isabel Serra Nunes, Maria Abreu, Jorge Diogo Da Silva, Diana Gonzaga, Paula Jorge

J Hum Genet· October 2025

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Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management.
Luís Salazar, Sara Alves Araújo, Mário Rui Correia, Jorge Diogo da Silva, Catarina Matos de Figueiredo

J Pediatr Endocrinol Metab· July 2025

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Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3.
Marta Daniela Costa, Jorge Diogo Da Silva, Dulce Almeida, Joana Pereira-Sousa, Daniela Vilasboas-Campos

Mech Ageing Dev· June 2025

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Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.
Jorge Diogo Da Silva, Nuno Maia, Paula Jorge, Vanessa Sousa, Nataliya Tkachenko

J Med Genet· March 2025

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"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Sandra Ribeiro Correia, Tiago Pereira Guedes, Jorge Diogo Da Silva, Nataliya Tkachenko, Isabel Pedroto

Clin Res Hepatol Gastroenterol· January 2025

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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Lotte Kleinendorst, Ozair Abawi, Niels Vos, Eline S van der Valk, Saskia M Maas, Jorge D Da Silva

Clin Obes· August 2024

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Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Jorge Diogo Da Silva, Ângela Pereira, Ana Rita Soares, Arlindo Guimas, Sara Rocha

Pediatr Res· July 2024

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Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3.
Sara Duarte-Silva, Jorge Diogo Da Silva, Daniela Monteiro-Fernandes, Marta Daniela Costa, Andreia Neves-Carvalho

J Clin Invest· March 2024

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An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Ângela Pereira, Nataliya Tkachenko, Ana Maria Fortuna, Isabel Alonso, Márcio Cardoso, Jorge Diogo Da Silva

Neurol Sci· September 2023

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Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Jorge Diogo Da Silva, Isaura Ribeiro, Carla Caseiro, Eugénia Pinto, Sónia Rocha, Elisabete Silva

Endocr Metab Immune Disord Drug Targets· September 2023

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Establishing an objective clinical spectrum, genotype-phenotype correlations, and as a modifier in the Ellis-van Creveld syndrome: The first systematic review of and -associated conditions.
Jorge Diogo Da Silva, Ana Rita Soares, Ana Maria Fortuna, Nataliya Tkachenko

Genet Med Open· March 2023

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Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service.
Mayla A A Dantas, Jorge Diogo Da Silva, Nataliya Tkachenko, Milena Paneque

J Community Genet· February 2023

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A Novel Frameshift Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques

Biomedicines· December 2022

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Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.
Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna

Biomedicines· November 2022

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Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments.
Cláudia Antunes, Jorge D Da Silva, Sónia Guerra-Gomes, Nuno D Alves, Eduardo Loureiro-Campos

Mol Neurobiol· August 2022

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Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D and Serotonin 1A and 2A Receptors in .
Ana Jalles, Cármen Vieira, Joana Pereira-Sousa, Daniela Vilasboas-Campos, Ana Francisca Mota, Jorge Diogo Da Silva

Biomedicines· February 2022

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Opicapone in Parkinson's Disease: Real-World Data from a Portuguese Center.
Filipa Meira-Carvalho, Jorge Diogo Da Silva, Margarida Rodrigues

Eur Neurol· November 2021

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Case Report: A Novel Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.
Jorge Diogo Da Silva, Marta Daniela Costa, Bruno Almeida, Fátima Lopes, Patrícia Maciel

Front Neurol· September 2021

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Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice.
Cláudia Antunes, Jorge D Da Silva, Sónia Guerra-Gomes, Nuno D Alves, Fábio Ferreira

Mol Psychiatry· May 2021

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Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration.
Jorge Diogo Da Silva, Stéphanie Oliveira, Joana Pereira-Sousa, Andreia Teixeira-Castro, Marta Daniela Costa

Mol Neurobiol· March 2020

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Bone Marrow Mesenchymal Stem Cells' Secretome Exerts Neuroprotective Effects in a Parkinson's Disease Rat Model.
Bárbara Mendes-Pinheiro, Sandra I Anjo, Bruno Manadas, Jorge D Da Silva, Ana Marote

Front Bioeng Biotechnol· November 2019

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From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation.
Jorge Diogo Da Silva, Andreia Teixeira-Castro, Patrícia Maciel

Neurotherapeutics· October 2019

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