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TMEM9B Regulates Endosomal ClC-3 and ClC-4 Transporters.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 8, p. 1034, doi. 10.3390/life14081034
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- Publication type:
- Article
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
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- Biomedicines, 2024, v. 12, n. 8, p. 1698, doi. 10.3390/biomedicines12081698
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- Publication type:
- Article
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease.
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- Movement Disorders, 2011, v. 26, n. 2, p. 341, doi. 10.1002/mds.23392
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- Publication type:
- Article
Epileptic myoclonus as ciprofloxacin-associated adverse effect.
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- Movement Disorders, 2007, v. 22, n. 11, p. 1675, doi. 10.1002/mds.21456
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- Publication type:
- Article
Long-Term High Flow Nasal Cannula Therapy in Primary and Secondary Bronchiectasis.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 9, p. 1250, doi. 10.3390/healthcare11091250
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- Publication type:
- Article
Versatility of Intermittent Abdominal Pressure Ventilation in a Case of Complicated Restrictive Respiratory Failure and COVID-19.
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- Healthcare (2227-9032), 2022, v. 10, n. 6, p. 1012, doi. 10.3390/healthcare10061012
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- Publication type:
- Article
The Role of High Flow Nasal Cannula in COVID-19 Associated Pneumomediastinum and Pneumothorax.
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- Healthcare (2227-9032), 2021, v. 9, n. 6, p. 620, doi. 10.3390/healthcare9060620
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- Publication type:
- Article
SIRT1 Inhibition Affects Angiogenic Properties of Human MSCs.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/783459
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- Publication type:
- Article
Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 12, p. 1617, doi. 10.3390/cells12121617
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- Publication type:
- Article
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 10, p. 2722, doi. 10.3390/cells10102722
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- Publication type:
- Article
Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead.
- Published in:
- Acta Myologica, 2024, v. 43, n. 2, p. 71, doi. 10.36185/2532-1900-431
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- Publication type:
- Article
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases.
- Published in:
- Acta Myologica, 2024, v. 43, n. 2, p. 48, doi. 10.36185/2532-1900-553
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- Publication type:
- Article
Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report.
- Published in:
- Acta Myologica, 2022, v. 41, n. 1, p. 48, doi. 10.36185/2532-1900-069
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- Publication type:
- Article
Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders.
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- Acta Myologica, 2021, v. 40, n. 3, p. 124, doi. 10.36185/2532-1900-053
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- Publication type:
- Article
Daytime alternatives for non-invasive mechanical ventilation in neuromuscular disorders.
- Published in:
- Acta Myologica, 2021, v. 40, n. 1, p. 51, doi. 10.36185/2532-1900-042
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- Publication type:
- Article
MPV promote adherence to nocturnal NIV in a Duchenne patient.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 101, doi. 10.36185-2532-1900-014
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- Publication type:
- Article
Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-24221-5
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- Publication type:
- Article
Characterization of a recurrent 15q24 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
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- Publication type:
- Article
Acute Pancreatitis and COVID-19: A Single-Center Experience.
- Published in:
- Journal of Multidisciplinary Healthcare, 2021, v. 14, p. 2857, doi. 10.2147/JMDH.S334835
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- Publication type:
- Article
Homocysteine (Hcy) assessment to predict outcomes of hospitalized Covid-19 patients: a multicenter study on 313 Covid-19 patients.
- Published in:
- 2021
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- Publication type:
- Letter
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
- Published in:
- 2021
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- Publication type:
- journal article
Cortical tremor: a tantalizing conundrum between cortex and cerebellum.
- Published in:
- 2020
- By:
- Publication type:
- letter
Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Early lipofuscin accumulation in frontal lobe epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
X-Linked Epilepsies: A Narrative Review.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 4110, doi. 10.3390/ijms25074110
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- Publication type:
- Article
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8079, doi. 10.3390/ijms23158079
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- Publication type:
- Article
Epilepsy Care in the Time of COVID-19 Pandemic in Italy: Risk Factors for Seizure Worsening.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00737
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- Publication type:
- Article
Perampanel Confirms to Be Effective and Well-Tolerated as an Add-On Treatment in Patients With Brain Tumor-Related Epilepsy (PERADET Study).
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00592
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- Publication type:
- Article
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.
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- Molecular Syndromology, 2017, v. 9, n. 1, p. 38, doi. 10.1159/000479949
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- Publication type:
- Article
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
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- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-018-0477-x
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- Publication type:
- Article
Targeted genetic analysis unveils novel associations between ACE I/D and APO T158C polymorphisms with D-dimer levels in severe COVID-19 patients with pulmonary embolism.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2023, v. 55, n. 1, p. 51, doi. 10.1007/s11239-022-02728-z
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- Publication type:
- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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- Publication type:
- Article
Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia.
- Published in:
- British Journal of Haematology, 2002, v. 117, n. 2, p. 436, doi. 10.1046/j.1365-2141.2002.03426.x
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- Publication type:
- Article
Role of apolipoprotein e (apoe) polymorphism on left cardiac failure in homozygous β thalassaemic patients.
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- British Journal of Haematology, 2001, v. 114, n. 4, p. 954, doi. 10.1046/j.1365-2141.2001.03006-6.x
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- Publication type:
- Article
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
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- Journal of Neurology, 2020, v. 267, n. 8, p. 2221, doi. 10.1007/s00415-020-09821-4
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- Publication type:
- Article
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
- Published in:
- Neurological Sciences, 2021, v. 42, n. 5, p. 2063, doi. 10.1007/s10072-020-04923-3
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- Publication type:
- Article
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Management of epilepsy in brain tumors.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The occurrence of lateral shift in cervical dystonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Bleeding events in COVID-19: the other side of the coin?
- Published in:
- Monaldi Archives for Chest Disease, 2021, v. 91, n. 3, p. 92, doi. 10.4081/monaldi.2021.1739
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- Publication type:
- Article
Una “insolita localizzazione": l'importanza dell'EBUS nella diagnostica neoplastica multidisciplinare.
- Published in:
- Rassegna di Patologia dell'Apparato Respiratorio, 2018, v. 33, n. 5, p. 282
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- Publication type:
- Article
Evolution of the Clinical Profile and Outcomes of Unvaccinated Patients Affected by Critical COVID-19 Pneumonia from the Pre-Vaccination to the Post-Vaccination Waves in Italy.
- Published in:
- Pathogens, 2022, v. 11, n. 7, p. N.PAG, doi. 10.3390/pathogens11070793
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- Publication type:
- Article
Home Management of Patients with Moderate or Severe Respiratory Failure Secondary to COVID-19, Using Remote Monitoring and Oxygen with or without HFNC.
- Published in:
- Pathogens, 2021, v. 10, n. 4, p. 413, doi. 10.3390/pathogens10040413
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- Publication type:
- Article
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 506, doi. 10.3390/brainsci10080506
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- Publication type:
- Article
Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 710, doi. 10.3390/biom13040710
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- Publication type:
- Article
Alpha-1 Antitrypsin Deficiency: Home Therapy.
- Published in:
- Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.575402
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- Publication type:
- Article
Alpha-1 antitrypsin deficiency in the elderly: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pulmonary Embolism in Covid-19: Coagulation Parameters, Close Monitoring to Prevent?
- Published in:
- Turkish Thoracic Journal / Turk Toraks Dergisi, 2020, v. 21, n. 4, p. 287, doi. 10.5152/TurkThoracJ.2020.20067
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- Publication type:
- Article