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Demyelinating Disease in Childhood 

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  1. Neurology | Journal

    Journal of Neurology

    The Journal of Neurology is an international peer-reviewed English-language journal which publishes on all aspects of clinical neurology from diagnosis to treatment. Founded in 1891, Journal of Neurology has reliably published excellent research in

  2. Open Access 14-11-2023 | Neuromyelitis Optica Spectrum Disease | Case Study

    Type B insulin resistance during treatment for NMOSD

    AQP4-IgG-positive neuromyelitis optica spectrum disorders are often associated with other autoimmune disorders, but this is the first report of type B insulin resistance, which developed 8 months after initiation of eculizumab.

  3. Open Access 08-04-2024 | Polyneuropathy | Online First

    Genetic aspects of ataxias in a cohort of Turkish patients

    Ataxia originated from the Greek word, meaning “disorderly’ or “lack of order.” It is a general term formerly used for heartbeat, gait, and movement disorders. The definition of ataxia is loss of function such as gait abnormality, speech changes …

  4. 05-08-2023 | Optic Neuritis | Review

    Differentiating and treating optic neuritis

    An overview of the clinical manifestations and treatment of demyelinating and autoimmune optic neuritis, which is the most common cause of subacute optic neuropathy in young adults.

  5. Open Access 01-12-2024 | Familial Mediterranean Fever | ReviewPaper

    Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

    Monogenic autoinflammatory disorders arise from mutations in a single gene, leading to dysregulation of the innate immune system, hyperinflammation, and various patterns of organ dysfunction, including within the central nervous system [ 1 ]. While …

  6. Open Access 01-12-2024 | Chronic Lymphocytic Leukemia | OriginalPaper

    Progressive multifocal leukoencephalopathy in a patient with B-cell chronic lymphocytic leukemia after COVID-19 vaccination, complicated with COVID-19 and mucormycosis: a case report

    Progressive multifocal leukoencephalopathy (PML) is a rare and fatal opportunistic viral demyelinating infectious disease of the central nervous system (CNS), initially described in 1958 in patients with lymphoproliferative and myeloproliferative …

  7. Open Access 29-12-2023 | Multiple Sclerosis | ReviewPaper

    Neuropsychological performances, quality of life, and psychological issues in pediatric onset multiple sclerosis: a narrative review

    Multiple sclerosis (MS) is primarily a disease diagnosed in young and middle-aged adults. Although MS is a rare condition in pediatric age, an increasing rate of patients is diagnosed under the age of 18. The disabling nature of the disease cannot …

  8. 01-01-2023 | OriginalPaper

    Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

    X-linked adrenoleukodystrophy (ALD) is a genetic disorder that presents neurologically as either a rapid and fatal cerebral demyelinating disease in childhood (childhood cerebral adrenoleukodystrophy; ccALD) or slow degeneration of the spinal cord …

  9. 23-04-2024 | Dysphagia | Online First

    Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature

    Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmission and providing substrates for protein biosynthesis. They also take part in nontranslational functions, mediated by the …

  10. 01-04-2024 | Events

    SPR 2024

  11. 11-11-2023 | OriginalPaper

    Clinical and genetic features of patients suffering from CMT4J

    Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson’s disease, and Charcot–Marie–Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J …

  12. 01-05-2024 | Multiple Sclerosis | Online First

    Advanced neuroimaging techniques to explore the effects of motor and cognitive rehabilitation in multiple sclerosis

    Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) [ 1 ]. MS is a multifaceted disease arising from complex gene–environment interactions [ 1 ], affecting …

  13. Open Access 18-03-2024 | Adalimumab | OriginalPaper

    The Efficacy of Adalimumab in Children with Chronic Non-infectious Posterior Uveitis and Panuveitis: A Retrospective Cohort Study

    Pediatric uveitis is a severe inflammatory eye disease that results in vision loss in one-third of patients, eventually leading to permanent blindness [ 1 ]. More severe complications in idiopathic pediatric uveitis require special considerations [ …2

  14. Open Access 22-02-2024 | COVID-19 | ReviewPaper

    Neurological and Neuroimaging Implications of COVID-19 in the Pediatric Population

    While COVID-19 is no longer the “hot-topic” it was 2 years ago, its prevalence and impact are still significant. In 2022, the CDC estimated that over 90% of children from 6 months to 17 years old have had COVID-19 infection. While most children …

  15. 01-12-2024 | OriginalPaper

    Evaluation of optical coherence tomography findings in patients with multiple sclerosis and glaucoma

    Multiple sclerosis is a chronic inflammatory disease causing axonal degeneration, central nervous system demyelination, and damage to visual pathways, leading to cell degeneration [ 1 ]. Glaucoma is a progressive disease characterized by the death …

  16. 31-10-2023 | Abstract

    Abstracts of the 53 Annual Conference of the Italian Society of Neurology

  17. Open Access 01-12-2023 | Abstract

    ECR 2023 Book of Abstracts

  18. Open Access 01-12-2024 | OriginalPaper

    IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset

    Multifocal motor neuropathy (MMN) is a rare, chronic motor neuropathy characterized by slowly progressive asymmetric weakness of distal limbs [ 1 – 4 ], that responds to treatment with intravenous or subcutaneous immunoglobulins (IVIg; ScIg) [ 5 …

  19. 28-02-2024 | Multiple Sclerosis | ReviewPaper

    How does aging impact MS?

    As individuals with multiple sclerosis get older, changes in immune and neuronal function affect clinical phenotype, pathology, and treatment efficacy. Understanding these changes is crucial for developing effective management strategies.

  20. Open Access 01-12-2024 | Multiple Sclerosis | OriginalPaper

    Soluble CD27 is an intrathecal biomarker of T-cell-mediated lesion activity in multiple sclerosis

    Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system (CNS) characterized by inflammation, demyelination and neurodegeneration [ 1 , 2 ]. Intrathecal inflammation with mild lymphocytic pleocytosis and oligoclonal …

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