Gema Garcia-Garcia
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Explore the profile of Gema Garcia-Garcia including associated specialties, affiliations and a list of published articles.
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40
Citations
645
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Tortajada-Perez J, Carranza A, Trujillo-Del Rio C, Collado-Perez M, Millan J, Garcia-Garcia G, et al.
Antioxidants (Basel)
. 2025 Jan;
14(1).
PMID: 39857412
Lipid metabolism plays a critical role in maintaining cellular integrity, especially within the nervous system, where lipids support neuronal structure, function, and synaptic plasticity. However, this essential metabolic pathway is...
3.
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
Berzal-Serrano A, Garcia-Bohorquez B, Aller E, Jaijo T, Pitarch-Castellano I, Rausell D, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846593
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via...
4.
Karali M, Garcia-Garcia G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39672920
The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been...
5.
Garcia-Bohorquez B, Barberan-Martinez P, Aller E, Jaijo T, Minguez P, Rodilla C, et al.
Mol Ther Nucleic Acids
. 2024 Dec;
35(4):102374.
PMID: 39629117
Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) to...
6.
Poyatos-Garcia J, Soblechero-Martin P, Liquori A, Lopez-Martinez A, Maestre P, Gonzalez-Romero E, et al.
Skelet Muscle
. 2024 Oct;
14(1):21.
PMID: 39354597
Background: Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to replicate benign spontaneous deletions. Deletion of 45-55 DMD exons (del45-55) was described in...
7.
Esteve-Garcia A, Cobos E, Sau C, Padro-Miquel A, Catala-Mora J, Barberan-Martinez P, et al.
Front Genet
. 2024 Mar;
15:1352063.
PMID: 38450199
exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked...
8.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, et al.
JCI Insight
. 2023 Sep;
8(21.
PMID: 37768732
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3...
9.
Gonzalez-Romero E, Martinez-Valiente C, Garcia-Garcia G, Rosal-Vela A, Millan J, Sanz M, et al.
Cancers (Basel)
. 2023 Sep;
15(17).
PMID: 37686539
Acute myeloid leukemia is a complex heterogeneous disease characterized by the clonal expansion of undifferentiated myeloid precursors. Due to the difficulty in the transfection of blood cells, several hematological models...
10.
Millan J, Garcia-Garcia G
Diagnostics (Basel)
. 2022 Apr;
12(4).
PMID: 35453856
The term rare disease was coined in the 1970s to refer to diseases that have a low prevalence [...].