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Agua y poblamiento en el curso inferior del Ebro: los espacios agrarios de la ciudad de Tortosa en época antigua y medieval.
- Published in:
- Water & Landscape (WAL) / Agua & Territorio (AYT), 2024, n. 24, p. 81, doi. 10.17561/at.24.7233
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- Publication type:
- Article
RECONSTRUYENDO EL AMBIENTE ACUÁTICO DE EDETA (SANT MIQUEL DE LLÍRIA, VALENCIA), ANTIGUA TYRIS.
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- Monografies de la Societat ďHistòria Natural de les Balears, 2021, n. 32, p. 217
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- Publication type:
- Article
IL VOLTO DELLA SANTITÀ: GENESI E DIFFUSIONE DELL'ICONOGRAFIA DI SALVATORE DA HORTA IN SARDEGNA.
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- Theologica & Historica, 2013, v. 22, p. 241
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- Publication type:
- Article
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6447, doi. 10.3390/ijms22126447
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- Publication type:
- Article
The Round Towers of the Andalusi-Catalan Borders (8th-10th centuries).
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- Journal of Islamic Archaeology, 2020, v. 7, n. 2, p. 157, doi. 10.1558/jia.13425
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- Publication type:
- Article
Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2003, v. 41, n. 7, p. 845, doi. 10.1515/CCLM.2003.128
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- Publication type:
- Article
Mitochondrial DAMPs Induce Endotoxin Tolerance in Human Monocytes: An Observation in Patients with Myocardial Infarction.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0095073
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- Publication type:
- Article
Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013164
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- Publication type:
- Article
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
- Published in:
- 2019
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- Publication type:
- journal article
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3471, doi. 10.3390/jcm10163471
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- Publication type:
- Article
Polyphosphate is involved in cell cycle progression and genomic stability in Saccharomyces cerevisiae.
- Published in:
- Molecular Microbiology, 2016, v. 101, n. 3, p. 367, doi. 10.1111/mmi.13396
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- Publication type:
- Article
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 5, p. 901, doi. 10.1038/mt.2014.6
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- Publication type:
- Article
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00576
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- Publication type:
- Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
- Published in:
- 2021
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- Publication type:
- journal article
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074
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- Publication type:
- Article
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 7, p. 2048, doi. 10.1093/brain/aws141
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- Publication type:
- Article
Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.
- Published in:
- FASEB Journal, 2022, v. 36, n. 1, p. 1, doi. 10.1096/fj.202100819RRR
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- Publication type:
- Article
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
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- FASEB Journal, 2019, v. 33, n. 6, p. 7168, doi. 10.1096/fj.201801591R
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- Publication type:
- Article
Effect of insulin administration on serum lipoprotein(a) and its phenotypes in new-onset IDDM patients.
- Published in:
- 1998
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- Publication type:
- Letter
Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.
- Published in:
- FEBS Journal, 2009, v. 276, n. 4, p. 1104, doi. 10.1111/j.1742-4658.2008.06853.x
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- Publication type:
- Article
Sistemas fraseológicos en contraste: enfoques computacionales y de corpus.
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- Estudios de Lingüística: Universidad de Alicante, 2023, n. 40, p. 479, doi. 10.14198/ELUA.24326
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- Publication type:
- Article
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
- Published in:
- 2020
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- Publication type:
- journal article
Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 649
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- Publication type:
- Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 376, doi. 10.1002/jimd.12300
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- Publication type:
- Article
Yeast Ppz1 protein phosphatase toxicity involves the alteration of multiple cellular targets.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72391-y
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- Publication type:
- Article
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66940-8
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- Publication type:
- Article
Le brunch et son réseau d'anglicismes : étude sur un corpus spécifique.
- Published in:
- Revista de Lengua para Fines Específicos, 2018, v. 24, n. 1, p. 123
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- Publication type:
- Article
Distinctive gastrointestinal motor dysfunction in patients with MNGIE.
- Published in:
- Neurogastroenterology & Motility, 2023, v. 35, n. 10, p. 1, doi. 10.1111/nmo.14643
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- Publication type:
- Article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459
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- Publication type:
- Article
The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells.
- Published in:
- PLoS Pathogens, 2016, v. 12, n. 8, p. 1, doi. 10.1371/journal.ppat.1005829
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- Publication type:
- Article
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 114, doi. 10.1038/nature10490
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- Publication type:
- Article
Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.
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- Journal of Physiology, 2015, v. 593, n. 12, p. 2693, doi. 10.1113/JP270085
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- Publication type:
- Article
Variations sur les expressions figées : quelle(s) traduction(s) chez les apprenants?
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- Yearbook of Phraseology, 2020, v. 11, n. 1, p. 35, doi. 10.1515/phras-2020-0004
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- Publication type:
- Article
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1
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- Publication type:
- Article
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
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- Human Mutation, 2011, v. 32, n. 4, p. E2061, doi. 10.1002/humu.21447
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- Publication type:
- Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
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- Publication type:
- Article
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 1, p. 91
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- Publication type:
- Article
Measuring QoS in an Aeronautical Opportunistic Network Architecture with Limited Access to a Satellite Communications Backhaul.
- Published in:
- Mobile Information Systems, 2016, p. 1, doi. 10.1155/2016/7601316
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- Publication type:
- Article
Inhibition of herpes simplex virus type 1 by the CDK6 inhibitor PD-0332991 (palbociclib) through the control of SAMHD1.
- Published in:
- Journal of Antimicrobial Chemotherapy (JAC), 2016, v. 71, n. 2, p. 387, doi. 10.1093/jac/dkv363
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- Publication type:
- Article
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03568-6
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- Publication type:
- Article
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005779
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- Publication type:
- Article