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List of works by Manabu Funayama

A case of α-synuclein gene duplication presenting with head-shaking movements

scientific article

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

scientific article

A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).

scientific article published in August 2005

A new mutation in the GCH1 gene presents as early-onset Parkinsonism

scientific article published on 03 June 2008

A rotarod test for evaluation of motor skill learning

scientific article published on 30 March 2010

ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons

scientific journal article

An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.

scientific article

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

scientific article published on 18 July 2012

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

scientific article

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease

scientific article

Analysis of alpha-synuclein, parkin, tau, and UCH-L1 in a Japanese family with autosomal dominant parkinsonism

scientific article published in January 2001

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

scientific journal article

COQ2 variants in Parkinson's disease and multiple system atrophy

scientific article published on 11 April 2018

Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan

scientific article published on 13 May 2020

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication

scientific article published on 01 December 2010

Clinicogenetic study of mutations inLRRK2 exon 41 in Parkinson's disease patients from 18 countries

scientific article published on 01 August 2006

DJ-1 associates with synaptic membranes

scientific article published on 30 May 2011

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

scientific article

Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease

scientific article published on 25 January 2014

Familial Parkinsonism with digenic parkin and PINK1 mutations.

scientific article published on 01 July 2008

GCH1 mutations in dopa-responsive dystonia and Parkinson's disease

scientific article published on 14 June 2018

Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease

scientific article published on 19 December 2017

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

scientific article

Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease

scientific article

Impaired in vivo dopamine release in parkin knockout mice

scientific article published on 8 July 2010

Juvenile-onset parkinsonism with digenic parkin and PINK1 mutations treated with subthalamic nucleus stimulation at 45 years after disease onset

scientific article published in August 2014

LRRK2 P755L variant in sporadic Parkinson's disease

scientific article published on 16 October 2008

Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population

scientific article published in February 2007

Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c

scientific article

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

scientific article published on 6 October 2012

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

scientific article

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

scientific article published on 01 December 2008

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease

scientific article published on June 2008

Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia

scientific article

Oxidative modulation of the glutathione-redox couple enhances lipopolysaccharide-induced interleukin 12 P40 production by a mouse macrophage cell line, J774A.1.

scientific article published on March 2003

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

article

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria

scientific article

PLA2G6 variant in Parkinson's disease

scientific article published on 03 March 2011

Possible involvement of iron-induced oxidative insults in neurodegeneration.

scientific article published on 27 December 2014

Preserved cardiac (123)I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient.

scientific article published in July 2009

Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.

scientific article

Progress in the pathogenesis and genetics of Parkinson's disease

scientific article published on June 2008

Pseudo-heterozygous rearrangement mutation of parkin

scientific article published on 05 February 2012

Rapid screening of ATP13A2 variant with high-resolution melting analysis

scientific article published in October 2010

Schizophrenia as a prodromal symptom in a patient harboring SNCA duplication

scientific article published on 08 February 2016

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia

scientific article published on 19 May 2008

Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease

scientific article published on 3 January 2018

VPS35 mutation in Japanese patients with typical Parkinson's disease

scientific article published on 18 September 2012

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