title: A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Rizzo
authors.forename: Fabio
authors.initials: F
authors.lastname: Pizza
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Caterina
authors.initials: C
authors.lastname: Tonon
authors.forename: Raffaele
authors.initials: R
authors.lastname: Lodi
authors.forename: Bruno
authors.initials: B
authors.lastname: Barbiroli
authors.forename: Paolo
authors.initials: P
authors.lastname: Ambrosetto
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
mesh_terms: D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000175:diagnosis* / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020234:Gait Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D009460:Neurologic Examination; D012333:RNA, Messenger / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D012333:RNA, Messenger