Found: 17
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Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 112, doi. 10.1111/jns.12367
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- Article
Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1244, doi. 10.3390/brainsci11091244
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- Article
Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1184, doi. 10.3390/brainsci11091184
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- Article
Impact of time to diagnosis on Mayo stages, treatment outcome, and survival in patients with AL amyloidosis and cardiac involvement.
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- European Journal of Haematology, 2021, v. 107, n. 4, p. 449, doi. 10.1111/ejh.13681
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- Article
Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 21, p. 5397, doi. 10.3390/ijms20215397
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- Article
A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.
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- BMC Neurology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12883-022-02952-3
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- Article
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
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- Journal of Neurology, 2023, v. 270, n. 7, p. 3483, doi. 10.1007/s00415-023-11689-z
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- Article
Nusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters.
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- Journal of Neurology, 2021, v. 268, n. 12, p. 4667, doi. 10.1007/s00415-021-10569-8
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- Article
Corneal confocal microscopy to detect early immune‐mediated small nerve fibre loss in AL amyloidosis.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 853, doi. 10.1002/acn3.51565
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- Article
Gut bacterial microbiota in patients with myasthenia gravis: results from the MYBIOM study.
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- Therapeutic Advances in Neurological Disorders, 2021, p. 1, doi. 10.1177/17562864211035657
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- Article
Gut bacterial microbiota in patients with myasthenia gravis: results from the MYBIOM study.
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- Therapeutic Advances in Neurological Disorders, 2021, p. 1, doi. 10.1177/17562864211035657
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- Article
Clinical features and predictors of atrial fibrillation in patients with light-chain or transthyretin cardiac amyloidosis.
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- ESC Heart Failure, 2022, v. 9, n. 3, p. 1740, doi. 10.1002/ehf2.13851
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- Article
Multiple blocks of intermittent and continuous theta-burst stimulation applied via transcranial magnetic stimulation differently affect sensory responses in rat barrel cortex.
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- Journal of Physiology, 2015, v. 593, n. 4, p. 967, doi. 10.1113/jphysiol.2014.282467
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- Article
Total Plasma Exchange in Neuromuscular Junction Disorders—A Single-Center, Retrospective Analysis of the Efficacy, Safety and Potential Diagnostic Properties in Doubtful Diagnosis.
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- Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4383, doi. 10.3390/jcm11154383
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- Article
Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment—A Pilot Study.
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- Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.812063
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- Article
Corneal confocal microscopy reveals small nerve fibre loss correlating with motor function in adult spinal muscular atrophy.
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- European Journal of Neurology, 2023, v. 30, n. 9, p. 2821, doi. 10.1111/ene.15852
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- Article
Quantitative <sup>99m</sup>Tc-DPD-SPECT/CT assessment of cardiac amyloidosis.
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- Journal of Nuclear Cardiology, 2023, v. 30, n. 1, p. 101, doi. 10.1007/s12350-022-02960-3
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- Article