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  1. Article ; Online: Children, neurology, and "the metaverse": is this the road map?

    Trabacca, Antonio

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 10, Page(s) 3719–3720

    MeSH term(s) Child ; Humans ; Neurology/trends
    Language English
    Publishing date 2023-06-23
    Publishing country Italy
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06921-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1877: Show issues Location:
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  2. Article ; Online: Neuromuscular diseases rehabilitation in the era of gene therapy.

    Trabacca, Antonio

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2020  Volume 41, Issue 7, Page(s) 1971–1972

    MeSH term(s) Genetic Therapy ; Humans ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/therapy
    Language English
    Publishing date 2020-02-07
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-020-04280-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1877: Show issues Location:
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  3. Article ; Online: Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.

    Giannotta, Gabriele / Ruggiero, Marta / De Rinaldis, Marta / Trabacca, Antonio

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2024  

    Abstract: The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes ... ...

    Abstract The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as "spinal muscular atrophy," "SMA," "cognitive," "abilities," "functions," "intellective," or "intellectual." Screening focused on titles and abstracts from English language peer-reviewed journals. After the initial research, 1452 articles were identified. Subsequent screening and selection led to the inclusion of 13 articles in the review. Among these studies, four indicated a cognitive trend within the normal range for SMA patients. In four other studies, the majority of patients fell within the normal range. However, smaller proportions were observed to be either above or below the norm compared to the controls. Three studies reported noted cognitive performance below the average, while two showed above-average scores. The scoping review suggests that most SMA patients have cognitive abilities similar to the general population, with types II and III showing even lesser impact. However, certain cognitive domains may be affected in type I patients, highlighting the need for further research to fully understand cognitive involvement in SMA.
    Language English
    Publishing date 2024-04-06
    Publishing country Italy
    Document type Journal Article ; Review
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-024-07503-x
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  4. Article ; Online: Social distancing and social interaction in children with autism spectrum disorder during the COVID-19 pandemic: a clinical oxymoron.

    Trabacca, Antonio / Craig, Francesco

    Minerva pediatrics

    2021  Volume 74, Issue 4, Page(s) 481–482

    MeSH term(s) Autism Spectrum Disorder/epidemiology ; COVID-19/epidemiology ; Child ; Humans ; Pandemics ; Physical Distancing ; Social Interaction
    Language English
    Publishing date 2021-04-12
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 3062664-X
    ISSN 2724-5780
    ISSN (online) 2724-5780
    DOI 10.23736/S2724-5276.21.06057-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.

    Dori, Amir / Scutifero, Marianna / Passamano, Luigia / Zoppi, Dario / Ruggiero, Lucia / Trabacca, Antonio / Politano, Luisa

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2024  Volume 43, Issue 1, Page(s) 8–15

    Abstract: Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin ... ...

    Abstract Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly
    MeSH term(s) Humans ; Female ; Child, Preschool ; Dystrophin/genetics ; Pilot Projects ; Codon, Nonsense ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Cardiomyopathies ; Oxadiazoles
    Chemical Substances Dystrophin ; ataluren (K16AME9I3V) ; Codon, Nonsense ; Oxadiazoles
    Language English
    Publishing date 2024-02-21
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2102328-1
    ISSN 2532-1900 ; 1128-2460
    ISSN (online) 2532-1900
    ISSN 1128-2460
    DOI 10.36185/2532-1900-398
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    Zs.A 6694: Show issues Location:
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  6. Article ; Online: CNS adverse effects of intrathecal baclofen treatment for spasticity in children with cerebral palsy and epilepsy: a case report.

    De Rinaldis, Marta / Gallo, Ivana / Oliva, Maria Carmela / Trabacca, Antonio

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 7, Page(s) 2609–2611

    MeSH term(s) Child ; Humans ; Cerebral Palsy/complications ; Cerebral Palsy/drug therapy ; Baclofen/adverse effects ; Muscle Spasticity/drug therapy ; Muscle Spasticity/etiology ; Muscle Relaxants, Central/adverse effects ; Epilepsy/complications ; Epilepsy/drug therapy ; Injections, Spinal/adverse effects
    Chemical Substances Baclofen (H789N3FKE8) ; Muscle Relaxants, Central
    Language English
    Publishing date 2023-03-18
    Publishing country Italy
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06757-1
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  7. Article ; Online: It's time to measure disability in spinal muscular atrophy.

    Trabacca, Antonio / Ferrante, Camilla / De Rinaldis, Marta

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2022  Volume 41, Issue 2, Page(s) 57–58

    MeSH term(s) Disability Evaluation ; Humans ; Muscular Atrophy, Spinal/diagnosis ; Spinal Muscular Atrophies of Childhood/diagnosis
    Language English
    Publishing date 2022-06-30
    Publishing country Italy
    Document type Letter
    ZDB-ID 2102328-1
    ISSN 2532-1900 ; 1128-2460
    ISSN (online) 2532-1900
    ISSN 1128-2460
    DOI 10.36185/2532-1900-070
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    Zs.A 6694: Show issues Location:
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  8. Article ; Online: The Ethic of Care, Disability, and Rehabilitation During the Coronavirus Disease 2019 Pandemic.

    Russo, Luigi / Trabacca, Antonio

    Pediatric neurology

    2020  Volume 111, Page(s) 39

    MeSH term(s) Betacoronavirus ; Bioethics ; COVID-19 ; Coronavirus ; Coronavirus Infections ; Humans ; Pandemics ; Pneumonia, Viral ; SARS-CoV-2
    Keywords covid19
    Language English
    Publishing date 2020-06-16
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2020.06.006
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    Zs.A 2260: Show issues Location:
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  9. Article ; Online: COVID-19 and child disabilities: whom to protect and how.

    Trabacca, Antonio / Russo, Luigi

    European journal of physical and rehabilitation medicine

    2020  Volume 56, Issue 3, Page(s) 372–373

    MeSH term(s) Betacoronavirus ; COVID-19 ; Child ; Child Health Services/organization & administration ; Coronavirus Infections/complications ; Coronavirus Infections/epidemiology ; Coronavirus Infections/therapy ; Disabled Children/rehabilitation ; Humans ; Pandemics ; Pneumonia, Viral/complications ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/therapy ; Rehabilitation/organization & administration ; SARS-CoV-2
    Keywords covid19
    Language English
    Publishing date 2020-04-24
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2426908-6
    ISSN 1973-9095 ; 1973-9087
    ISSN (online) 1973-9095
    ISSN 1973-9087
    DOI 10.23736/S1973-9087.20.06309-1
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    Zs.B 1388: Show issues Location:
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  10. Article ; Online: Moving towards precision neurological rehabilitation: a mandatory path to follow in the era of precision neurology.

    Trabacca, Antonio / Lucarelli, Elisabetta / Losito, Luciana

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2021  Volume 42, Issue 9, Page(s) 3889–3891

    MeSH term(s) Humans ; Neurological Rehabilitation ; Neurology
    Language English
    Publishing date 2021-05-27
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-021-05349-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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