Showing 1 - 7 results of 7 for search 'Carlotta Spagnoli', query time: 0.03s Refine Results
  1. 1
    Symptomatic seizures in preterm newborns: a review on clinical features and prognosis

    Symptomatic seizures in preterm newborns: a review on clinical features and prognosis by Carlotta Spagnoli, Raffaele Falsaperla, Michela Deolmi, Giovanni Corsello, Francesco Pisani

    Published 2018
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  2. 2
    Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

    Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report by Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco

    Published 2019
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  3. 3
    A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature

    A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature by Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco

    Published 2023
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  4. 4
    Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

    Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene by Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani

    Published 2017
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  5. 5
    Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?

    Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when? by Daniele Frattini, Alessandro Iodice, Carlotta Spagnoli, Susanna Rizzi, Carlo Alberto Cesaroni, Michela Cappella, Carlo Fusco

    Published 2023
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  6. 6
    Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

    Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus by Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts' group, Carlotta Spagnoli

    Published 2021
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  7. 7
    Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

    Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders by Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco

    Published 2024
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