検索結果 - Carlo Fusco

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

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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 著者: Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco

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

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

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

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

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