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Article

Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan.

Movement disorders : official journal of the Movement Disorder Society - 15 Dec 2008

Tomiyama Hiroyuki, Kokubo Yasumasa, Sasaki Ryogen, Li Yuanzhe, Imamichi Yoko, Funayama Manabu, Mizuno Yoshikuni, Hattori Nobutaka, Kuzuhara Shigeki

Abstract excerpt

To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in...

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Source

Identifiers

PMID: 18759352
DOI: 10.1002/mds.22262

Genes

PDC
MAPT
ALS2
TARDBP
ANG
DCTN1
PINK1
SMN1
SOD1
SOD2
SOD3
VAPB
VCP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18759352-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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