title: A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.
authors.affiliation: Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy, scarlato.marina@hsr.it.
authors.forename: Marina
authors.initials: M
authors.lastname: Scarlato
authors.forename: Arturo
authors.initials: A
authors.lastname: Nuara
authors.forename: Simonetta
authors.initials: S
authors.lastname: Gerevini
authors.forename: Sara
authors.initials: S
authors.lastname: Benedetti
authors.forename: Paolo
authors.initials: P
authors.lastname: Rossi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Stefano Carlo
authors.initials: SC
authors.lastname: Previtali
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000235:genetics*; D000074181:Spastin; D055815:Young Adult
chemical_list: C101270:FRG1 protein, human; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human