title: GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Marina
authors.initials: M
authors.lastname: Pedemonte
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Silvia
authors.initials: S
authors.lastname: Stringara
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D019054:Evoked Potentials, Motor / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D011712:Pyramidal Tracts / Q000503:physiopathology*
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins; D001120:Arginine; D008715:Methionine