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Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798
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- Publication type:
- Article
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 806, doi. 10.1093/brain/awac452
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- Publication type:
- Article
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810274
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- Publication type:
- Article
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K V 4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4986, doi. 10.3390/ijms22094986
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- Publication type:
- Article
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
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- Publication type:
- Article
"Build Your Village"—Conducting the Village Test on Cognitively Impaired Patients: A First Journey into Alzheimerland.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 6, p. 523, doi. 10.3390/brainsci14060523
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- Publication type:
- Article
Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1237, doi. 10.3390/brainsci11091237
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- Publication type:
- Article
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01026
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- Publication type:
- Article
Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
- Published in:
- 2022
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- Publication type:
- corrected article
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
- Published in:
- 2021
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- Publication type:
- journal article
Numerical and experimental verification of an inverse‐direct approach for load and strain monitoring in aeronautical structures.
- Published in:
- Structural Control & Health Monitoring, 2021, v. 28, n. 2, p. 1, doi. 10.1002/stc.2657
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- Publication type:
- Article
Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 8, p. 2123, doi. 10.1002/acn3.52133
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- Publication type:
- Article
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 521, doi. 10.1111/cge.13668
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- Publication type:
- Article
Eculizumab as a fast-acting rescue therapy in a refractory myasthenic crisis: a case report.
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- Journal of Neurology, 2022, v. 269, n. 11, p. 6152, doi. 10.1007/s00415-022-11222-8
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- Publication type:
- Article
High-dose steroid therapy for CNS inflammatory diseases increases INR in patients taking oral vitamin K antagonist.
- Published in:
- 2019
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- Publication type:
- Letter
Overcoming therapeutic challenges: Successful management of a supposedly triple seronegative, refractory generalized myasthenia gravis patient with efgartigimod.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16306
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- Publication type:
- Article
Analisi delle competenze infermieristiche nei servizi di emergenza preospedaliera: i risultati di un'indagine multicentrica Italiana.
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- 2010
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- Publication type:
- Journal Article
Analisi delle competenze infermieristiche nei servizi di emergenza preospedaliera: i risultati di un'indagine multicentrica italiana.
- Published in:
- SCENARIO: Official Italian Journal of ANIARTI, 2010, v. 27, n. 4, p. 35
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- Publication type:
- Article
Il trattamento del dolore nell'emergenza sanitaria preospedaliera.
- Published in:
- SCENARIO: Official Italian Journal of ANIARTI, 2009, v. 26, n. 3, p. 5
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- Publication type:
- Article
Intraoperative electroneurography-guided intercostal nerve cryoablation for pain control after thoracoabdominal aneurysm open surgical repair.
- Published in:
- International Angiology, 2022, v. 41, n. 2, p. 128, doi. 10.23736/S0392-9590.22.04817-9
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- Publication type:
- Article