Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hang-I Lin"'
Autor:
Hang-I Lin, Chih-Shan Chen, Meng-Ling Chen, Pei-Lung Chen, Chun-Hwei Tai, Chin-Hsien Lin, Ruey-Meei Wu
Publikováno v:
Movement Disorders. 34:506-515
BACKGROUND Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::293bf71c42b751410f3985b50760986e
https://doi.org/10.1002/mds.27633
https://doi.org/10.1002/mds.27633
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 174:751-756
Mutations in transmembrane protein 230 (TMEM230) have recently been reported to be associated with Parkinson's disease (PD) in a North American population. A highly prevalent mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5) was found in 3.1% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f12fb218b02c1eb54409e9c30261b4c
https://doi.org/10.1002/ajmg.b.32576
https://doi.org/10.1002/ajmg.b.32576
Publikováno v:
Parkinsonism & Related Disorders. 79:e29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fdf5989efa64731f57c809bca4676a7
https://doi.org/10.1016/j.parkreldis.2020.06.127
https://doi.org/10.1016/j.parkreldis.2020.06.127
Autor:
Chin-Hsien, Lin, Pei-Lung, Chen, Chun-Hwei, Tai, Hang-I, Lin, Chih-Shan, Chen, Meng-Ling, Chen, Ruey-Meei, Wu
Publikováno v:
Movement Disorders
Background Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::853770dcde14a6319348b55de3d5b583
https://pubmed.ncbi.nlm.nih.gov/30788857
https://pubmed.ncbi.nlm.nih.gov/30788857
Autor:
Huei-Ying Li, Hang-I Lin, Chin-Hsien Lin, Yin-Hung Lin, Meng-Ling Chen, Ta-Fu Chen, Pei-Lung Chen, Ruey-Meei Wu, Chien-Yu Chen, Tian-Sin Fan, Chun-Hwei Tai
Publikováno v:
Parkinsonismrelated disorders. 33
Introduction Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of Parkinson's disease (PD). However, only few cases carrying LRRK2 mutations have been reported in Taiwanese PD patients. Methods We used targeted next gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e00536f588e8e623271e7f4f0ac540
https://pubmed.ncbi.nlm.nih.gov/27628070
https://pubmed.ncbi.nlm.nih.gov/27628070
Publikováno v:
Neurobiology of aging. 36(10)
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline. This mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55bb197a9930a0bfd5f0bf09b6e696b0
https://pubmed.ncbi.nlm.nih.gov/26149920
https://pubmed.ncbi.nlm.nih.gov/26149920
Publikováno v:
Neurobiology of Aging. 38:218.e1-218.e2
A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing 2 ( CHCHD2 ) gene, p.Thr61Ile, in a Japanese multigenerational family with autosomal dominant Parkinson's disease (PD). Subsequent analyses ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08800e29a8bd71a520d9b958cf0262ce
https://doi.org/10.1016/j.neurobiolaging.2015.11.020
https://doi.org/10.1016/j.neurobiolaging.2015.11.020