Marco Fichera

Summary

Affiliation: Sleep Research Centre
Country: Italy

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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

  • Vincenza Barresi
  • Mariangela Lo Giudice
  • Angela Ragusa
  • Corrado Romano
  • Nicolò Musso
  • Teresa Mattina
  • Daniele F Condorelli
  • Lucia Castiglia
  • Guido Cocchi
  • Giancarlo Rappazzo
  • Salvatore Travali
  • Marcella Neri
  • Michele Falco
  • Daniela Di Benedetto
  • Elisa Calzolari
  • Maurizio Sturnio

Detail Information

Publications3

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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
    ..We propose that the KIF5A gene should be routinely analyzed in patients with hereditary spastic paraplegia negative for spastin and atlastin mutations...