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Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 948, doi. 10.1002/mdc3.14148
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- Article
Editorial: Sleep disorders in neuromuscular diseases: treatable conditions: the evolving scenario of sleep in neuromuscular disorders.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1448486
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- Article
Excessive daytime sleepiness in myotonic dystrophy: a narrative review.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1389949
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Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7311, doi. 10.3390/ijms25137311
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A case of early disease rebound after fingolimod discontinuation in a patient with multiple sclerosis and SARS-CoV-2 infection.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2423, doi. 10.1007/s10072-024-07490-z
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Assessment of diagnostic criteria for multifocal motor neuropathy in patients included in the Italian database.
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- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16248
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- Article
SARS-CoV-2-related myelitis: two cases from a major neurological clinic in Central Italy.
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- Neurological Sciences, 2024, v. 45, n. 5, p. 1845, doi. 10.1007/s10072-024-07370-6
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- Article
Primary Coenzyme Q10 Deficiency-Related Ataxias.
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- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391
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- Article
Beyond Pain Relief: Unveiling the Multifaceted Impact of Anti-CGRP/R mAbs on Comorbid Symptoms in Resistant Migraine Patients.
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- Biomedicines, 2024, v. 12, n. 3, p. 677, doi. 10.3390/biomedicines12030677
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- Article
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
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- Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
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Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 375, doi. 10.3233/JND-221513
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- Article
Neurogenic orthostatic hypotension in Parkinson's disease: is there a role for locus coeruleus magnetic resonance imaging?
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- Journal of Neural Transmission, 2024, v. 131, n. 2, p. 157, doi. 10.1007/s00702-023-02721-7
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Verbal fluency patterns associated with the amnestic conversion from mild cognitive impairment to dementia.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52562-x
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- Article
Biomolecules of Muscle Fatigue in Metabolic Myopathies.
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- Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 50, doi. 10.3390/biom14010050
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Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
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- Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
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- Article
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
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- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16746, doi. 10.3390/ijms242316746
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Advances in Dystrophinopathy Diagnosis and Therapy.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1319, doi. 10.3390/biom13091319
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- Article
Pre-existing frontal lobe dysfunction signs as predictors of subsequent neurotoxicity in CAR T cell therapy: insights from a case series.
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- Neurological Sciences, 2023, v. 44, n. 9, p. 3291, doi. 10.1007/s10072-023-06841-6
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- Article
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 8, p. 1, doi. 10.1007/s00018-023-04885-7
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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
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- Orphanet Journal of Rare Diseases, 2023, p. 1, doi. 10.1186/s13023-023-02825-z
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- Article
The role of sleep in neuromuscular disorders.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1195302
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Risk of disease relapse, safety and tolerability of SARS‐CoV‐2 vaccination in patients with chronic inflammatory neuropathies.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 1907, doi. 10.1111/ene.15811
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Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.
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- Acta Myologica, 2023, v. 42, n. 2/3, p. 65, doi. 10.36185/2532-1900-330
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Bilateral hippocampal toxic damage: an "unforgettable" cause of acute global amnesia.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1805, doi. 10.1007/s10072-022-06565-z
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- Article
Phenotype variabilities of laminopathies.
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- European Journal of Translational Myology, 2023, v. 33, n. 2, p. 37, doi. 10.4081/ejtm.2023.11427
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New avenues for treatment of Facioscapulohumeral Muscular Dystrophy.
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- European Journal of Translational Myology, 2023, v. 33, n. 2, p. 41, doi. 10.4081/ejtm.2023.11427
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- Article
Pathophysiology and Management of Fatigue in Neuromuscular Diseases.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 5005, doi. 10.3390/ijms24055005
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- Article
Could Temperamental Features Modulate Participation in Clinical Trials?
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- Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 1121, doi. 10.3390/jcm12031121
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- Article
Magnetic resonance imaging Locus Coeruleus abnormality in amnestic Mild Cognitive Impairment is associated with future progression to dementia.
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- European Journal of Neurology, 2023, v. 30, n. 1, p. 32, doi. 10.1111/ene.15556
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- Article
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 119, doi. 10.3233/JND-221526
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- Article
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy.
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- Neurological Sciences, 2022, v. 43, p. 625, doi. 10.1007/s10072-022-06085-w
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- Article
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
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- European Radiology, 2022, v. 32, n. 12, p. 8058, doi. 10.1007/s00330-022-08865-6
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- Article
Mitochondrial Epilepsy, a Challenge for Neurologists.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13216, doi. 10.3390/ijms232113216
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- Article
Morphometric imaging and quantitative susceptibility mapping as complementary tools in the diagnosis of parkinsonisms.
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- European Journal of Neurology, 2022, v. 29, n. 10, p. 2944, doi. 10.1111/ene.15447
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- Article
Biological determinants of blood‐based cytokines in the Alzheimer's disease clinical continuum.
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- Journal of Neurochemistry, 2022, v. 163, n. 1, p. 40, doi. 10.1111/jnc.15686
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- Article
Is hypnotic assessment relevant to neurology?
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- Neurological Sciences, 2022, v. 43, n. 8, p. 4655, doi. 10.1007/s10072-022-06122-8
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- Article
Distribution Indices of Magnetic Susceptibility Values in the Primary Motor Cortex Enable to Classify Patients with Amyotrophic Lateral Sclerosis.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/brainsci12070942
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Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.
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- Neurology International, 2022, v. 14, n. 2, p. 337, doi. 10.3390/neurolint14020028
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- Article
Increase in Mitochondrial D-Loop Region Methylation Levels in Mild Cognitive Impairment Individuals.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5393, doi. 10.3390/ijms23105393
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- Article
Unusual concomitant small‐ and large‐fiber neuropathy related to hypereosinophilic syndrome.
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- Clinical & Experimental Neuroimmunology, 2022, v. 13, n. 2, p. 84, doi. 10.1111/cen3.12666
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A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 457, doi. 10.3233/JND-220802
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- Article
Negative DAT‐SPECT in Old Onset Parkinson's Disease: An Additional Pitfall?
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 4, p. 530, doi. 10.1002/mdc3.13441
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- Article
Obstructive Sleep Apnoea Syndrome Screening Through Wrist-Worn Smartbands: A Machine-Learning Approach.
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- Nature & Science of Sleep, 2022, v. 14, p. 941, doi. 10.2147/NSS.S352335
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Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients.
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- 2022
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- Publication type:
- journal article
Fluid Biomarkers in Alzheimer's Disease and Other Neurodegenerative Disorders: Toward Integrative Diagnostic Frameworks and Tailored Treatments.
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- Diagnostics (2075-4418), 2022, v. 12, n. 4, p. 796, doi. 10.3390/diagnostics12040796
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Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population.
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- GeroScience, 2022, v. 44, n. 2, p. 881, doi. 10.1007/s11357-021-00477-0
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Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?
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- Acta Myologica, 2022, v. 41, n. 1, p. 24, doi. 10.36185/2532-1900-065
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- Article
Arterial intracranial thrombosis as the first manifestation of vaccine-induced immune thrombotic thrombocytopenia (VITT): a case report.
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- 2022
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- Publication type:
- journal article
Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP.
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- Journal of Neurology, 2022, v. 269, n. 2, p. 907, doi. 10.1007/s00415-021-10672-w
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- Article
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 83, doi. 10.3233/JND-210711
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- Article