title: A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
authors.affiliation: Departments of Pathology, College of Physicians and Surgeons, Columbia University, NewYork, NY 10032, USA.
authors.forename: Conrad L
authors.initials: CL
authors.lastname: Leung
authors.forename: Cui Zhen
authors.initials: CZ
authors.lastname: He
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.forename: Steven S
authors.initials: SS
authors.lastname: Chin
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Ronald K H
authors.initials: RK
authors.lastname: Liem
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsumoto
authors.forename: Arthur P
authors.initials: AP
authors.lastname: Hays
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D001483:Base Sequence; D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D018613:Microscopy, Confocal; D008969:Molecular Sequence Data; D009046:Motor Neurons / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D016900:Neurofilament Proteins / Q000378:metabolism; D064531:Peripherins; D017354:Point Mutation; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology*; D014162:Transfection
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; C578994:PRPH protein, human; D064531:Peripherins; C579005:Prph protein, mouse; C044882:neurofilament protein L