Lista de obras - Manabu Funayama - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease

artículo científico publicado en 2014

Familial Parkinsonism with digenic parkin and PINK1 mutations.

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Impaired in vivo dopamine release in parkin knockout mice

artículo científico publicado en 2010

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

artículo científico publicado en 2014

LRRK2 P755L variant in sporadic Parkinson's disease

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2012

PLA2G6 variant in Parkinson's disease

artículo científico publicado en 2011

Possible involvement of iron-induced oxidative insults in neurodegeneration.

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Progress in the pathogenesis and genetics of Parkinson's disease

artículo científico publicado en 2008

Pseudo-heterozygous rearrangement mutation of parkin

artículo científico publicado en 2012

Rapid screening of ATP13A2 variant with high-resolution melting analysis

artículo científico publicado en 2010

Schizophrenia as a prodromal symptom in a patient harboring SNCA duplication

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease

artículo científico publicado en 2018

VPS35 mutation in Japanese patients with typical Parkinson's disease

artículo científico publicado en 2012

Lista de obras de Manabu Funayama

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

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

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

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

A rotarod test for evaluation of motor skill learning

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

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

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

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

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

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

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

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

COQ2 variants in Parkinson's disease and multiple system atrophy

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

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

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

DJ-1 associates with synaptic membranes

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

Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease

Familial Parkinsonism with digenic parkin and PINK1 mutations.

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

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

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

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

Impaired in vivo dopamine release in parkin knockout mice

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

LRRK2 P755L variant in sporadic Parkinson's disease

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

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

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

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

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

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

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

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

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

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

PLA2G6 variant in Parkinson's disease

Possible involvement of iron-induced oxidative insults in neurodegeneration.

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

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

Progress in the pathogenesis and genetics of Parkinson's disease

Pseudo-heterozygous rearrangement mutation of parkin

Rapid screening of ATP13A2 variant with high-resolution melting analysis

Schizophrenia as a prodromal symptom in a patient harboring SNCA duplication

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

Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease

VPS35 mutation in Japanese patients with typical Parkinson's disease