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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Publication type:
- Article
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02753-x
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- Publication type:
- Article
DIGItal Health Literacy after COVID-19 Outbreak among Frail and Non-Frail Cardiology Patients: The DIGI-COVID Study.
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- Journal of Personalized Medicine, 2023, v. 13, n. 1, p. 99, doi. 10.3390/jpm13010099
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- Publication type:
- Article
Atrial fibrillation, comorbidities, stroke, and mortality in real-world clinical practice.
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- Polish Archives of Internal Medicine, 2024, v. 134, n. 3, p. 1, doi. 10.20452/pamw.16712
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- Publication type:
- Article
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations.
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- Annals of Neurology, 2003, v. 54, n. 1, p. 30
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- Publication type:
- Article
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 417, doi. 10.1002/epi4.12843
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- Publication type:
- Article
Atrial High-Rate Episodes Detected by Cardiac Implantable Electronic Devices: Dynamic Changes in Episodes and Predictors of Incident Atrial Fibrillation.
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- Biology (2079-7737), 2022, v. 11, n. 3, p. 443, doi. 10.3390/biology11030443
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- Publication type:
- Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
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- Publication type:
- Article
Remote monitoring and telemedicine in heart failure: implementation and benefits.
- Published in:
- Current Cardiology Reports, 2021, v. 23, n. 6, p. 1, doi. 10.1007/s11886-021-01487-2
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- Publication type:
- Article
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 995, doi. 10.1038/ejhg.2012.21
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- Publication type:
- Article
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
- Published in:
- 2014
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- Publication type:
- journal article
The α<sub>2B</sub>-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 1, p. 77, doi. 10.1002/ana.24028
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- Publication type:
- Article
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 568, doi. 10.1002/mgg3.235
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- Publication type:
- Article
Patterns of comorbidities in patients with atrial fibrillation and impact on management and long-term prognosis: an analysis from the Prospective Global GLORIA-AF Registry.
- Published in:
- BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03373-4
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- Publication type:
- Article
Therapeutic effects of sodium–glucose cotransporter 2 inhibitors in patients with heart failure with preserved ejection fraction: From outcome improvement to potentially favourable influences on atrial fibrillation burden, atrial fibrillation progression and atrial cardiomyopathy
- Published in:
- European Journal of Heart Failure, 2023, v. 25, n. 7, p. 978, doi. 10.1002/ejhf.2891
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- Publication type:
- Article
Educational status affects prognosis of patients with heart failure with reduced ejection fraction: A post‐hoc analysis from the WARCEF trial.
- Published in:
- European Journal of Clinical Investigation, 2024, v. 54, n. 5, p. 1, doi. 10.1111/eci.14152
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- Publication type:
- Article
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26447-w
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- Publication type:
- Article
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
- Published in:
- Molecular Diagnosis & Therapy, 2017, v. 21, n. 4, p. 357, doi. 10.1007/s40291-017-0257-0
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- Publication type:
- Article
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 354, doi. 10.1111/j.1469-8749.2010.03889.x
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- Publication type:
- Article
Dravet Syndrome: A Case Series.
- Published in:
- 2021
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- Publication type:
- Letter
Quantification of Myocardial Contraction Fraction with Three-Dimensional Automated, Machine-Learning-Based Left-Heart-Chamber Metrics: Diagnostic Utility in Hypertrophic Phenotypes and Normal Ejection Fraction.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 17, p. 5525, doi. 10.3390/jcm12175525
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- Publication type:
- Article
Low Occurrence of Infections and Death in a Real-World Cohort of Patients with Cardiac Implantable Electronic Devices.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 7, p. 2599, doi. 10.3390/jcm12072599
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- Publication type:
- Article
Cardiovascular Reasons for Access to a Tertiary Oncological Emergency Service: The CARILLON Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 962, doi. 10.3390/jcm12030962
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- Publication type:
- Article
Factors Associated with Progression of Atrial Fibrillation and Impact on All-Cause Mortality in a Cohort of European Patients.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 768, doi. 10.3390/jcm12030768
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- Publication type:
- Article
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical decisions for appropriate management of patients with atrial fibrillation.
- Published in:
- Panminerva Medica, 2024, v. 66, n. 3, p. 266, doi. 10.23736/S0031-0808.24.05114-0
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- Publication type:
- Article
Sex-related differences in presentation, treatment, and outcomes of Asian patients with atrial fibrillation: a report from the prospective APHRS-AF Registry.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45345-3
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- Publication type:
- Article
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 497, doi. 10.1093/hmg/ddn377
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- Publication type:
- Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
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- 2022
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- Publication type:
- journal article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
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- 2019
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- Publication type:
- journal article
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
- Published in:
- 2019
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- Publication type:
- journal article
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
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- 2018
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- Publication type:
- journal article
Unstable non-coding pentanucleotide repeats destabilize cortical excitability.
- Published in:
- 2018
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- Publication type:
- journal article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
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- Publication type:
- Article
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1155, doi. 10.1093/brain/awt068
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- Publication type:
- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Publication type:
- Article
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.
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- Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
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- Publication type:
- Article
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants.
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- Epilepsia (Series 4), 2022, v. 63, n. 1, p. e7, doi. 10.1111/epi.17118
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- Publication type:
- Article
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2405, doi. 10.1111/epi.16690
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- Publication type:
- Article
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 995, doi. 10.1111/epi.16508
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- Publication type:
- Article
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
- Published in:
- Epilepsia (Series 4), 2020, v. 60, p. S2, doi. 10.1111/epi.16054
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- Publication type:
- Article
Multimorbidity in atrial fibrillation: A call for integrated patient-centered care.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 6, p. 560, doi. 10.33963/KP.a2023.0107
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- Publication type:
- Article
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
- Published in:
- Human Mutation, 2017, v. 38, n. 2, p. 216, doi. 10.1002/humu.23149
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- Publication type:
- Article
Systematic review and meta-analysis on the impact on outcomes of device algorithms for minimizing right ventricular pacing.
- Published in:
- EP: Europace, 2024, v. 26, n. 8, p. 1, doi. 10.1093/europace/euae212
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- Publication type:
- Article
Antiarrhythmic drugs in the era of atrial fibrillation ablation.
- Published in:
- EP: Europace, 2024, v. 26, n. 6, p. 1, doi. 10.1093/europace/euae122
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- Publication type:
- Article
Impact of chronic obstructive pulmonary disease in patients with atrial fibrillation: an analysis from the GLORIA-AF registry.
- Published in:
- EP: Europace, 2024, v. 26, n. 1, p. 1, doi. 10.1093/europace/euae021
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- Publication type:
- Article
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
- Published in:
- Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
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- Publication type:
- Article
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
- Published in:
- Cerebral Cortex, 2023, v. 33, n. 16, p. 9532, doi. 10.1093/cercor/bhad224
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- Publication type:
- Article