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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11847, doi. 10.3390/ijms231911847
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- Publication type:
- Article
El lavado de activos y su influencia en la productividad y el desarrollo económico de un país.
- Published in:
- Revista Espacios, 2019, v. 40, n. 18, p. 1
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- Publication type:
- Article
Bolometric detection of Josephson inductance in a highly resistive environment.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43668-3
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- Publication type:
- Article
Adsorción de Cu y Cd por la biomasa miceliar de tres cepas Pleurotus, hongo de la pudrición blanca.
- Published in:
- Geominas, 2015, v. 43, n. 67, p. 108
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- Publication type:
- Article
Ethics and Aesthetics for Enhancing Design and Transforming Social Reality.
- Published in:
- Journal of Leadership, Accountability & Ethics, 2022, v. 19, n. 3, p. 31, doi. 10.33423/jlae.v19i3.5322
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- Publication type:
- Article
Erp como alternativa de eficiencia en la gestión financiera de las empresas.
- Published in:
- Revista Lasallista de Investigación, 2018, v. 15, n. 2, p. 182, doi. 10.22507/rli.v15n2a14
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- Publication type:
- Article
Interlaboratory study on real-time PCR detection and quantification of the European anglerfish, pike, and seabream parvalbumin gene.
- Published in:
- European Food Research & Technology, 2024, v. 250, n. 11, p. 2821, doi. 10.1007/s00217-024-04578-w
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- Publication type:
- Article
Reaching unreachables: Obstacles and successes of microbial cultivation and their reasons.
- Published in:
- Frontiers in Microbiology, 2023, v. 14, p. 1, doi. 10.3389/fmicb.2023.1089630
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- Publication type:
- Article
Compuestos fenólicos totales y actividad antioxidante de la fermentación en estado sólido de bagazo de manzana (Malus domestica Borkh., var. panochera).
- Published in:
- Revista Ciencia y Tecnología Agropecuaria, 2022, v. 23, n. 2, p. 59, doi. 10.21930/rcta.vol23_num2_art:2103
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- Publication type:
- Article
Functional and structural characterization of PII‐like protein CutA does not support involvement in heavy metal tolerance and hints at a small‐molecule carrying/signaling role.
- Published in:
- FEBS Journal, 2021, v. 288, n. 4, p. 1142, doi. 10.1111/febs.15464
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- Publication type:
- Article
Nitrogen storage regulation by PII protein: lessons learned from taxonomic outliers.
- Published in:
- FEBS Journal, 2020, v. 287, n. 3, p. 439, doi. 10.1111/febs.15189
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- Publication type:
- Article
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12817
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- Publication type:
- Article
Rapid point‐of‐need detection of bacteria and their toxins in food using gold nanoparticles.
- Published in:
- Comprehensive Reviews in Food Science & Food Safety, 2021, v. 20, n. 6, p. 5880, doi. 10.1111/1541-4337.12839
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- Publication type:
- Article
Advanced Methods for Detection of Bacillus cereus and Its Pathogenic Factors.
- Published in:
- Sensors (14248220), 2020, v. 20, n. 9, p. 2667, doi. 10.3390/s20092667
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- Publication type:
- Article
Evaluation of the efficacy and tolerability of nitrendipine in reducing both pressure and left ventricular mass in hypertensive type 2 diabetic patients.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Derechos de la Naturaleza y la jurisprudencia constitucional en Ecuador.
- Published in:
- Foro Revista de Derecho, 2024, n. 41, p. 7, doi. 10.32719/26312484.2024.41.1
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- Publication type:
- Article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
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- Publication type:
- Article
Zero-average Bias Bidirectional Single-electron Current Generation in a Hybrid Turnstile.
- Published in:
- Journal of Low Temperature Physics, 2023, v. 210, n. 1/2, p. 232, doi. 10.1007/s10909-022-02878-7
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- Publication type:
- Article
Δ<sup>1</sup>‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 657, doi. 10.1002/jimd.12220
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- Publication type:
- Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 761, doi. 10.1007/s10545-011-9411-8
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- Publication type:
- Article
Biosorción y tolerancia de Pb, Cr y Cd por la biomasa de Pleurotus ostreatus (Jacq. Ex Fr.) P. Kumm.
- Published in:
- Revista Mexicana de Ciencias Agrícolas, 2021, v. 12, n. 2, p. 275, doi. 10.29312/remexca.v12i2.2687
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- Publication type:
- Article
Electronic and Topological Analysis for New Phases of Chromium Nitride.
- Published in:
- Physica Status Solidi. A: Applications & Materials Science, 2018, v. 215, n. 1, p. 1, doi. 10.1002/pssa.201700576
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- Publication type:
- Article
Exploring the Potential of Micrococcus luteus Culture Supernatant With Resuscitation-Promoting Factor for Enhancing the Culturability of Soil Bacteria.
- Published in:
- Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.685263
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- Publication type:
- Article
The site for the allosteric activator GTP of Escherichia coli UMP kinase
- Published in:
- FEBS Letters, 2009, v. 583, n. 1, p. 185, doi. 10.1016/j.febslet.2008.11.043
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- Publication type:
- Article
Modeling the growth of Aspergillus brasiliensis affected by a nonthermal plasma.
- Published in:
- Journal of Applied Microbiology, 2024, v. 135, n. 5, p. 1, doi. 10.1093/jambio/lxae124
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- Publication type:
- Article
Solid-State Treatment of Castor Cake Employing the Enzymatic Cocktail Produced from <italic>Pleurotus djamor</italic> Fungi.
- Published in:
- Applied Biochemistry & Biotechnology, 2018, v. 185, n. 2, p. 434, doi. 10.1007/s12010-017-2656-4
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- Publication type:
- Article
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 679, doi. 10.1002/humu.22995
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- Publication type:
- Article
Secondary Metabolites and Antioxidant Activity of the Solid-State Fermentation inApple (Pirus malus L.) and Agave Mezcalero (Agave angustifolia H.) Bagasse.
- Published in:
- Journal of Fungi, 2020, v. 6, n. 3, p. 1, doi. 10.3390/jof6030137
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- Publication type:
- Article
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16400, doi. 10.3390/ijms242216400
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- Publication type:
- Article
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 245, doi. 10.1007/s10048-017-0524-6
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- Publication type:
- Article
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x
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- Publication type:
- Article
Supporting the Sensory Panel to Grade Virgin Olive Oils: An In-House-Validated Screening Tool by Volatile Fingerprinting and Chemometrics.
- Published in:
- Foods, 2020, v. 9, n. 10, p. 1509, doi. 10.3390/foods9101509
- By:
- Publication type:
- Article
Supporting the Sensory Panel to Grade Virgin Olive Oils: An In-House-Validated Screening Tool by Volatile Fingerprinting and Chemometrics.
- Published in:
- Foods, 2020, v. 9, n. 10, p. 1509, doi. 10.3390/foods9101509
- By:
- Publication type:
- Article
Correction: The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation.
- Published in:
- PLoS Pathogens, 2022, v. 18, n. 7, p. 1, doi. 10.1371/journal.ppat.1010631
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- Publication type:
- Article