Marco Fichera

Summary

Affiliation: Sleep Research Centre
Country: Italy

Publications

  1. pmc 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
    Daniela Di Benedetto
    Laboratory of Medical Genetics, I, R, C, C, S, Associazione Oasi Maria Santissima, Troina, Italy
    Mol Cytogenet 6:4. 2013
  2. ncbi request reprint Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
    M Fichera
    Genetic Diagnostic Laboratory, IRCCS Oasi M SS Troina, Italy
    Neurology 63:1108-10. 2004
  3. pmc Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
    Vincenza Barresi
    Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy
    BMC Med Genomics 3:28. 2010
  4. ncbi request reprint A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
    Mariangela Lo Giudice
    Genetic Diagnostic Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Oasi Maria SS, Troina, Italy
    Arch Neurol 63:284-7. 2006

Collaborators

  • Daniela Di Benedetto
  • Mariangela Lo Giudice
  • Lucia Castiglia
  • Corrado Romano
  • Vincenza Barresi
  • Girolamo Aurelio Vitello
  • Lucia Grillo
  • Marinella Zingale
  • Sebastiano Antonino Musumeci
  • Giuseppa Di Vita
  • Nicolò Musso
  • Guido Cocchi
  • Angela Ragusa
  • Giancarlo Rappazzo
  • Daniele F Condorelli
  • Teresa Mattina
  • Salvatore Travali
  • Michele Falco
  • Marcella Neri
  • Maurizio Sturnio
  • Elisa Calzolari

Detail Information

Publications4

  1. pmc 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
    Daniela Di Benedetto
    Laboratory of Medical Genetics, I, R, C, C, S, Associazione Oasi Maria Santissima, Troina, Italy
    Mol Cytogenet 6:4. 2013
    ..abstract:..
  2. ncbi request reprint Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
    M Fichera
    Genetic Diagnostic Laboratory, IRCCS Oasi M SS Troina, Italy
    Neurology 63:1108-10. 2004
    ..Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity...
  3. pmc Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
    Vincenza Barresi
    Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy
    BMC Med Genomics 3:28. 2010
    ..In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age...
  4. ncbi request reprint A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
    Mariangela Lo Giudice
    Genetic Diagnostic Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Oasi Maria SS, Troina, Italy
    Arch Neurol 63:284-7. 2006
    ..To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP)...