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Author/Creator Scuderi, Carmela

1. A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study. (2nd October 2018)

Authors:
Pironti, Erica; Salpietro, Vincenzo; Cucinotta, Francesca; Granata, Francesca; Mormina, Enricomaria; Efthymiou, Stephanie; Scuderi, Carmela; Gagliano, Antonella; Houlden, Henry; Di Rosa, Gabriella
Journal:
Journal of neurogenetics
Issue:
Volume 32:Number 4(2018)
Page Start:
316
Record Type:
Journal Article
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2. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. Issue 8 (14th April 2014)

Authors:
Di Benedetto, Daniela; Musumeci, Sebastiano Antonino; Avola, Emanuela; Alberti, Antonino; Buono, Serafino; Scuderi, Carmela; Grillo, Lucia; Galesi, Ornella; Spalletta, Angela; Giudice, Mariangela Lo; Luciano, Daniela; Vinci, Mirella; Bianca, Sebastiano; Romano, Corrado; Fichera, Marco
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 8(2014.)
Page Start:
1923
Record Type:
Journal Article
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3. Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability. (February 2023)

Authors:
Scuderi, Carmela; Santa Paola, Sandro; Lo Giudice, Mariangela; Di Blasi, Francesco Domenico; Giusto, Stefania; Di Vita, Giuseppa; Pettinato, Rosa; Vitello, Girolamo Aurelio; Romano, Corrado; Buono, Serafino; Salpietro, Vincenzo; Houlden, Henry; Borgione, Eugenia
Journal:
Research in autism spectrum disorders
Issue:
Volume 100(2022)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗