Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation

Neuropathology

Volumn 34, Issue 1, 2014, Pages 64-70

  Kamada, Masaki ^a,c   Izumi, Yuishin ^a   Ayaki, Takashi ^d   Nakamura, Masataka ^e   Kagawa, Seiko ^a   Kudo, Eiji ^a   Sako, Wataru ^a   Maruyama, Hirofumi ^f,h   Nishida, Yoshihiko ^b   Kawakami, Hideshi ^f   Ito, Hidefumi ^d,g   Kaji, Ryuji ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b Itsuki Hospital   (Japan)

^c KAGAWA UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e KANSAI MEDICAL UNIVERSITY   (Japan)

^f HIROSHIMA UNIVERSITY   (Japan)

^g WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^h HIROSHIMA UNIVERSITY   (Japan)

Author keywords

ALS Plus syndrome; Amyotrophic lateral sclerosis; Autosomal recessive; optineurin; TDP 43

Indexed keywords

OPTINEURIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BULBAR PARALYSIS; CASE REPORT; DYSTONIA; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; GLIOSIS; HAND MALFORMATION; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; JAPANESE; LIMB WEAKNESS; MIDDLE AGED; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGICAL REFLEX; PRIORITY JOURNAL; RESPIRATORY FAILURE;

ALS-PLUS SYNDROME; AMYOTROPHIC LATERAL SCLEROSIS; AUTOSOMAL RECESSIVE; OPTINEURIN; TDP-43;

AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; GENES, RECESSIVE; HUMANS; MIDDLE AGED; MUTATION; TRANSCRIPTION FACTOR TFIIIA;

EID: 84892808067     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12051     Document Type: Article

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