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A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
- Published in:
- Thyroid, 2024, v. 34, n. 7, p. 942, doi. 10.1089/thy.2023.0593
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- Publication type:
- Article
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49746-4
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- Publication type:
- Article
Epilepsy in Duchenne and Becker muscular dystrophies.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1456, doi. 10.1002/acn3.52058
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- Publication type:
- Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
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- Publication type:
- Article
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
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- Publication type:
- Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
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- Publication type:
- Article
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 653, doi. 10.3233/JND-230012
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- Publication type:
- Article
Calibration of a Dust Scattering Instrument Using Tomographic Techniques and Its Application to a Dust Sensor Instrument.
- Published in:
- Sensors (14248220), 2023, v. 23, n. 11, p. 5036, doi. 10.3390/s23115036
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- Publication type:
- Article
Kif21B mediates the effect of estradiol on the morphological plasticity of mouse hippocampal neurons.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, v. 16, p. 1, doi. 10.3389/fnmol.2023.1143024
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- Publication type:
- Article
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6358, doi. 10.3390/ijms24076358
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- Publication type:
- Article
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
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- Publication type:
- Article
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 408, doi. 10.1002/acn3.51731
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- Publication type:
- Article
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 12, p. 3666, doi. 10.1111/ene.15542
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- Publication type:
- Article
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study.
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- European Journal of Neurology, 2022, v. 29, n. 11, p. 3337, doi. 10.1111/ene.15501
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- Publication type:
- Article
Pathological Features in Paediatric Patients with TK2 Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11002, doi. 10.3390/ijms231911002
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- Publication type:
- Article
I'm All Ears: A Population-Based Analysis of Consumer Product Foreign Bodies of the Ear.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2022, v. 131, n. 8, p. 829, doi. 10.1177/00034894211045638
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- Publication type:
- Article
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.
- Published in:
- Biomedicines, 2022, v. 10, n. 6, p. 1372, doi. 10.3390/biomedicines10061372
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- Publication type:
- Article
Cover Image, Volume 70, Issue 6.
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- Glia, 2022, v. 70, n. 6, p. C1, doi. 10.1002/glia.24176
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- Publication type:
- Article
IGF‐1 regulates astrocytic phagocytosis and inflammation through the p110α isoform of PI3K in a sex‐specific manner.
- Published in:
- Glia, 2022, v. 70, n. 6, p. 1153, doi. 10.1002/glia.24163
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- Publication type:
- Article
Ultrasound-guided ethanol sclerotherapy for multifocal unilateral Warthin's tumor after partial parotidectomy.
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- Ultrasound, 2022, v. 30, n. 2, p. 158, doi. 10.1177/1742271X211030302
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- Publication type:
- Article
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4410, doi. 10.3390/ijms23084410
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- Publication type:
- Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
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- Publication type:
- Article
Complications Associated with PROPEL Mometasone Furoate Bioabsorbable Drug-eluting Sinus Stents From 2012 to 2020.
- Published in:
- American Journal of Rhinology & Allergy, 2022, v. 36, n. 2, p. 185, doi. 10.1177/19458924211035641
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- Publication type:
- Article
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.784880
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- Publication type:
- Article
Feel the Burn! Fireworks-related Otolaryngologic Trauma.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2021, v. 130, n. 12, p. 1369, doi. 10.1177/00034894211008100
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- Publication type:
- Article
Reply to Letter to the Editor regarding "Head and neck osteosarcomas: An analysis of treatment trends and survival outcomes in the United States (2004–2016)".
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
Head and neck osteosarcomas: Analysis of treatment trends and survival outcomes in the United States (2004–2016).
- Published in:
- Head & Neck, 2021, v. 43, n. 11, p. 3294, doi. 10.1002/hed.26817
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- Publication type:
- Article
Intratonsillar Mass in a Teenager.
- Published in:
- 2021
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- Publication type:
- Case Study
COVID-19 in children with neuromuscular disorders.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 9, p. 3081, doi. 10.1007/s00415-020-10339-y
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- Publication type:
- Article
Tracheotomy in COVID-19 Patients: A Systematic Review and Meta-analysis of Weaning, Decannulation, and Survival.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2021, v. 165, n. 3, p. 398, doi. 10.1177/0194599820984780
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- Publication type:
- Article
Transoral robotic surgery versus nonrobotic resection of oropharyngeal squamous cell carcinoma.
- Published in:
- Head & Neck, 2021, v. 43, n. 7, p. 2259, doi. 10.1002/hed.26724
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- Publication type:
- Article
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.659922
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- Publication type:
- Article
Adverse Events Associated With Laser Use in the Upper Airway.
- Published in:
- 2021
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- Publication type:
- journal article
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4274, doi. 10.3390/ijms22084274
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- Publication type:
- Article
Outpatient Parotidectomy: A Retrospective Series.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2021, v. 130, n. 3, p. 254, doi. 10.1177/0003489420938101
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- Publication type:
- Article
Outpatient vs inpatient parotidectomy: Systematic review and meta‐analysis.
- Published in:
- Head & Neck, 2021, v. 43, n. 2, p. 668, doi. 10.1002/hed.26482
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- Publication type:
- Article
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
The spectral sensitivity of Drosophila photoreceptors.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-74742-1
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- Publication type:
- Article
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 971, doi. 10.1111/epi.16493
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- Publication type:
- Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
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- Publication type:
- Article
Simultaneous Nasal Carriage by Methicillin-Resistant and Methicillin Susceptible Staphylococcus aureus of Lineage ST398 in a Live Pig Transporter.
- Published in:
- Pathogens, 2020, v. 9, n. 5, p. 401, doi. 10.3390/pathogens9050401
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- Publication type:
- Article
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00304
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- Publication type:
- Article
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
- Published in:
- 2020
- By:
- Publication type:
- journal article
LA ESTIRPE ALBANESA DE LA VIRGEN DEL REFUGIO DE LA TRINIDAD: SOBRE UN VIEJO ICONO CASI OLVIDADO.
- Published in:
- Ars Longa, 2020, n. 29, p. 45, doi. 10.7203/arslonga.29.15638
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- Publication type:
- Article
Iluminaciones naturales y revestimientos cromáticos. Historia de los acabados de la catedral de Santa María de la Huerta de Tarazona (siglos XIII-XXI).
- Published in:
- BSAA Arte, 2020, n. 86, p. 445, doi. 10.24197/bsaaa.86.2020.445-448
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- Publication type:
- Article
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50415-6
- By:
- Publication type:
- Article
AVANCES EN EL TRATAMIENTO DE LA DISTROFIA DE DUCHENNE.
- Published in:
- Medicina (Buenos Aires), 2019, v. 79, p. 77
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- Publication type:
- Article
DIAGNÓSTICO Y TRATAMIENTO DE LAS MIOPATÍAS CONGÉNITAS.
- Published in:
- Medicina (Buenos Aires), 2019, v. 79, p. 82
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- Publication type:
- Article
Diverse Endoscopic Techniques for Diagnosing Recurrent Respiratory Papillomatosis.
- Published in:
- 2019
- By:
- Publication type:
- Case Study