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1. Full Text Generalized chorea in the syndrome of acute bilateral basal ganglia lesions in patients with diabetic uremia
by Lin, Juei-Jueng
Journal of Clinical Neuroscience, ISSN 0967-5868, 2011, Volume 18, Issue 9, pp. 1266 - 1268
Abstract The syndrome of acute bilateral basal ganglia (BG) lesions in patients with diabetic uremia normally affects Asian patients and usually presents with... 
Neurology | Basal ganglia | Uremia | Chorea | Diabetes mellitus | NEUROSCIENCES | CLINICAL NEUROLOGY | Diabetes Complications - physiopathology | Humans | Middle Aged | Chorea - etiology | Magnetic Resonance Imaging - methods | Male | Taiwan - ethnology | Uremia - complications | Basal Ganglia Diseases - complications | Aged, 80 and over | Basal Ganglia Diseases - etiology | Female | Diabetes Complications - pathology | Care and treatment | Kidney diseases | Diabetes
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2. Full Text Carbamazepine-Induced Toxic Effects and HLA-B1502 Screening in Taiwan
by Chen, Pei and Chen, Chien-Hsiun and Chen, Ying-Ju and Chen, Yuan-Tsong and Chen, Luke and Lin, Shu-Yi and Lin, Juei-Jueng and Lin, Yu-Hsuan and Lu, Chung-Ta and Lu, Chin-Song and Lu, Cheng-Hsien and Ong, Cheung-Ter and Hsieh, Peiyuan F and Yang, Chih-Chao and Tai, Chih-Ta and Wu, Jer-Yuarn and Wu, Shey-Lin and Hsu, Yung-Chu and Yu, Hsiang-Yu and Ro, Long-Sun and Chu, Chun-Che and Tsai, Pei-Joung and Tsai, Jing-Jane and Su, Yu-Hsiang and Lan, Sheng-Hsing and Sung, Sheng-Feng and Chuang, Hui-Ping and Huang, Li-Chen and Liao, Hung-Ting and Chung, Wen-Hung and Hung, Shuen-Iu and Chang, Chi-Feng and Shen, Chen-Yang and Taiwan SJS Consortium
The New England Journal of Medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 12, pp. 1126 - 1133
In this prospective study, Han Chinese subjects who were candidates for carbamazepine therapy were screened for the HLA-B*1502 allele because of its... 
ALLELE | EPIDERMAL NECROLYSIS | POPULATION | MEDICINE, GENERAL & INTERNAL | MARKER | DEATH | ADVERSE DRUG-REACTIONS | STEVENS-JOHNSON-SYNDROME | ASSOCIATION | Drug-Related Side Effects and Adverse Reactions - prevention & control | Genetic Testing | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Stevens-Johnson Syndrome - prevention & control | Child, Preschool | Infant | Male | Incidence | Young Adult | Stevens-Johnson Syndrome - chemically induced | Anticonvulsants - adverse effects | Stevens-Johnson Syndrome - epidemiology | Drug-Related Side Effects and Adverse Reactions - genetics | Aged, 80 and over | Adult | Female | HLA-B15 Antigen | Child | HLA-B Antigens - genetics | Pharmacogenetics | Anticonvulsants - therapeutic use | Carbamazepine - therapeutic use | Genotype | Stevens-Johnson Syndrome - genetics | Carbamazepine - adverse effects | Adolescent | Taiwan | Aged | Taiwanese | Complications and side effects | Stevens-Johnson syndrome | Toxic epidermal necrolysis | Usage | Histocompatibility antigens | HLA histocompatibility antigens | Causes of | Medical screening | Health aspects | Carbamazepine | Testing | Confidence intervals | Medical research | Clinical medicine | Apoptosis | Index Medicus | Abridged Index Medicus
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3. Full Text Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions
by Hung, Shuen-Iu and Chung, Wen-Hung and Jee, Shiou-Hwa and Chen, Wen-Chieh and Chang, Yun-Ting and Lee, Woan-Ruoh and Hu, Shu-Ling and Wu, Meng-Tse and Chen, Gwo-Shing and Wong, Tak-Wah and Hsiao, Pa-Fan and Chen, Wei-Hsuan and Shih, Han-Yu and Fang, Wu-Hsiang and Wei, Chun-Yu and Lou, Yi-Hui and Huang, Yau-Li and Lin, Juei-Jueng and Chen, Yuan-Tsong
Pharmacogenetics and Genomics, ISSN 1744-6872, 04/2006, Volume 16, Issue 4, pp. 297 - 306
The anticonvulsant carbamazepine (CBZ) frequently causes cutaneous adverse drug reactions (cADRs), including maculopapular eruption (MPE), hypersensitivity... 
Stevens-Johnson syndrome | Toxic epidermal necrolysis | Cutaneous adverse drug reactions | Major histocompatibility complex | Hypersensitivity syndrome | Carbamazepine | Genetic polymorphisms | Pharmacogenomics | FREQUENCIES | hypersensitivity syndrome | major histocompatibility complex | genetic polymorphisms | carbamazepine | toxic epidermal necrolysis | CYTOTOXIC T-CELLS | pharmacogenomics | POLYMORPHISMS | 10,11-EPOXIDE | HLA-B-ASTERISK-5701 | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PHARMACOLOGY & PHARMACY | cutaneous adverse drug reactions | MICROSOMAL EPOXIDE HYDROLASE | HYPERSENSITIVITY REACTIONS | STEVENS-JOHNSON-SYNDROME | ASSOCIATION | Haplotypes | Genetic Predisposition to Disease | Stevens-Johnson Syndrome - complications | Humans | Stevens-Johnson Syndrome - physiopathology | Case-Control Studies | Stevens-Johnson Syndrome - chemically induced | Anticonvulsants - adverse effects | Carbamazepine - adverse effects | Exanthema - pathology | Drug Hypersensitivity - genetics | HLA-B Antigens - genetics | Stevens-Johnson Syndrome - pathology
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4. Full Text Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation
by Lin, Juei-Jueng and Lu, Chin-Song and Tsai, Chon-Haw
Journal of Neurology, ISSN 0340-5354, 3/2018, Volume 265, Issue 3, pp. 478 - 485
We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a 99mTc-TRODAT-1 (TRODAT)... 
Parkinsonism | Neurology | Dopamine transporter (DAT) | Neurosciences | Dopa-responsive dystonia (DRD) | Guanosine triphosphate cyclohydrolase 1 (GCH-1) gene | Medicine & Public Health | Brain 99m Tc-TRODAT-1 SPECT imaging | Asymptomatic gene carrier | Neuroradiology | Brain | Tc-TRODAT-1 SPECT imaging | TOMOGRAPHY | DIAGNOSIS | DIURNAL FLUCTUATION | PHENOTYPE | DEFICIENCY | CLINICAL NEUROLOGY | Brain Tc-99m-TRODAT-1 SPECT imaging | DELETION | GTP CYCLOHYDROLASE-I | NONMOTOR SYMPTOMS | FREQUENCY | PARKINSONS-DISEASE | Complications and side effects | GTP | Usage | Dopamine | Parkinson's disease | Gene mutations | Magnetic resonance imaging | Analysis | Development and progression | Dosage and administration | Research | Neuroimaging | Dihydroxyphenylalanine | Medical imaging | Neurodegenerative diseases | Guanosine | Single photon emission computed tomography | Computed tomography | Point mutation | Neostriatum | Dopamine transporter | Mutation | Dystonia | Movement disorders | Dopamine receptors
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5. Full Text Large-scale replication and heterogeneity in Parkinson disease genetic loci
by Sharma, Manu and Ioannidis, John P.A and Aasly, Jan O and Annesi, Grazia and Brice, Alexis and Van Broeckhoven, Christine and Bertram, Lars and Bozi, Maria and Crosiers, David and Clarke, Carl and Facheris, Maurizio and Farrer, Matthew and Garraux, Gaetan and Gispert, Suzana and Auburger, Georg and Vilariño-Güell, Carles and Hadjigeorgiou, Georgios M and Hicks, Andrew A and Hattori, Nobutaka and Jeon, Beom and Lesage, Suzanne and Lill, Christina M and Lin, Juei-Jueng and Lynch, Timothy and Lichtner, Peter and Lang, Anthony E and Mok, Vincent and Jasinska-Myga, Barbara and Mellick, George D and Morrison, Karen E and Opala, Grzegorz and Pramstaller, Peter P and Pichler, Irene and Park, Sung Sup and Quattrone, Aldo and Rogaeva, Ekaterina and Ross, Owen A and Stefanis, Leonidas and Stockton, Joanne D and Satake, Wataru and Silburn, Peter A and Theuns, Jessie and Tan, Eng-King and Toda, Tatsushi and Tomiyama, Hiroyuki and Uitti, Ryan J and Wirdefeldt, Karin and Wszolek, Zbigniew and Xiromerisiou, Georgia and Yueh, Kuo-Chu and Zhao, Yi and Gasser, Thomas and Maraganore, Demetrius and Krüger, Rejko and GEO-PD Consortium and On behalf of the GEO-PD Consortium
Neurology, ISSN 0028-3878, 08/2012, Volume 79, Issue 7, pp. 659 - 667
Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD)... 
VARIANTS | METAANALYSES | UNCERTAINTY | RISK | COMPLEX DISEASES | MAPT | SUSCEPTIBILITY GENES | CLINICAL NEUROLOGY | GENOME-WIDE ASSOCIATION | SNCA | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Humans | Middle Aged | Genotype | Male | Genetic Loci | Parkinson Disease - genetics | Case-Control Studies | Alleles | Female | Aged | Polymorphism, Single Nucleotide | 165 | 172
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6. Full Text Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization
by Guo, Yuh-Cherng and Lin, Juei-Jueng and Liao, Yi-Chu and Tsai, Pei-Chien and Lee, Yi-Chung and Soong, Bing-Wen
Neurology, ISSN 0028-3878, 10/2014, Volume 83, Issue 17, pp. 1554 - 1561
OBJECTIVE:To elucidate the clinical and cellular characteristics of spinocerebellar ataxia type 35 (SCA35), which is caused by mutations in the TGM6 gene... 
ANTIBODIES | DOMINANT CEREBELLAR ATAXIAS | TRANSGLUTAMINASE | HUNTINGTONS-DISEASE BRAIN | CLINICAL NEUROLOGY | GLUTEN ATAXIA | FEATURES | Torticollis - etiology | Humans | Middle Aged | Endoplasmic Reticulum - metabolism | Transglutaminases - genetics | Family Health | Male | Mitochondria - metabolism | HEK293 Cells - ultrastructure | Mutation, Missense - genetics | Magnetic Resonance Imaging | Transfection | Transglutaminases - metabolism | Age of Onset | Taiwan | Brain - pathology | Machado-Joseph Disease - physiopathology | Adult | Female | Intellectual Disability - etiology | HEK293 Cells - metabolism | Cohort Studies | Machado-Joseph Disease - genetics
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7. Full Text Prevalence and risk factors of cognitive impairment in Parkinson disease
by Huang, Yu-Ching and Huang, Yu-Ching and Wu, Shwu-Tzy and Wu, Shwu-Tzy and Lin, Juei-Jueng and Lin, Juei-Jueng and Lin, Che-Chen and Lin, Che-Chen and Kao, Chia-Hung and Kao, Chia-Hung
Medicine, ISSN 0025-7974, 05/2015, Volume 94, Issue 17, p. e782
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8. Full Text Prevalence and Risk Factors of Cognitive Impairment in Parkinson Disease A Population-Based Case-Control Study in Taiwan
by Huang, YC and Wu, ST and Lin, JJ and Lin, CC and Kao, CH
MEDICINE, ISSN 0025-7974, 05/2015, Volume 94, Issue 17, p. e782
The aim of this study was to evaluate the Parkinson disease (PD) prevalence of cognitive impairment in Taiwan. The case-control study consisted of 6177... 
LEWY | MEDICINE, GENERAL & INTERNAL | DEMENTIA | INCIDENT | Parkinson Disease - complications | Prevalence | Humans | Middle Aged | Risk Factors | Male | Case-Control Studies | Incidence | Cognition Disorders - etiology | Taiwan - epidemiology | Aged, 80 and over | Parkinson Disease - epidemiology | Female | Aged | Cognition Disorders - epidemiology
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9. Full Text A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
by Sharma, Manu and Ioannidis, John P A and Aasly, Jan O and Annesi, Grazia and Brice, Alexis and Bertram, Lars and Bozi, Maria and Barcikowska, Maria and Crosiers, David and Clarke, Carl E and Facheris, Maurizio F and Farrer, Matthew and Garraux, Gaetan and Gispert, Suzana and Auburger, Georg and Vilariño-Güell, Carles and Hadjigeorgiou, Georgios M and Hicks, Andrew A and Hattori, Nobutaka and Jeon, Beom S and Jamrozik, Zygmunt and Krygowska-Wajs, Anna and Lesage, Suzanne and Lill, Christina M and Lin, Juei-Jueng and Lynch, Timothy and Lichtner, Peter and Lang, Anthony E and Libioulle, Cecile and Murata, Miho and Mok, Vincent and Jasinska-Myga, Barbara and Mellick, George D and Morrison, Karen E and Meitnger, Thomas and Zimprich, Alexander and Opala, Grzegorz and Pramstaller, Peter P and Pichler, Irene and Park, Sung Sup and Quattrone, Aldo and Rogaeva, Ekaterina and Ross, Owen A and Stefanis, Leonidas and Stockton, Joanne D and Satake, Wataru and Silburn, Peter A and Strom, Tim M and Theuns, Jessie and Tan, Eng- King and Toda, Tatsushi and Tomiyama, Hiroyuki and Uitti, Ryan J and Van Broeckhoven, Christine and Wirdefeldt, Karin and Wszolek, Zbigniew and Xiromerisiou, Georgia and Yomono, Harumi S and Yueh, Kuo-Chu and Zhao, Yi and Gasser, Thomas and Maraganore, Demetrius and Krüger, Rejko and GEOPD Consortium and GEOPD consortium and on behalf of GEOPD consortium
Journal of Medical Genetics, ISSN 0022-2593, 11/2012, Volume 49, Issue 11, pp. 721 - 726
Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of... 
POPULATION | METAANALYSES | GENETICS & HEREDITY | RETROMER COMPLEX | MUTATIONS | IDENTIFICATION | LOCUS | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Genetic Association Studies | Vesicular Transport Proteins - metabolism | Humans | Risk Factors | Vesicular Transport Proteins - genetics | Female | Male | Mutation | Parkinson Disease - genetics | Usage | Parkinson's disease | Genetic aspects | Diagnosis | Research | Risk factors | Genetic screening | Genetic epidemiology | Parkinson-s disease | Complex traits | Genetics | Genome-wide | 1506 | Genotype-Phenotype Correlations
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10. Full Text Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
by Wang, Lisa and Aasly, Jan O and Annesi, Grazia and Bardien, Soraya and Bozi, Maria and Brice, Alexis and Carr, Jonathan and Chung, Sun J and Clarke, Carl and Crosiers, David and Deutschländer, Angela and Eckstein, Gertrud and Farrer, Matthew J and Goldwurm, Stefano and Garraux, Gaetan and Hadjigeorgiou, Georgios M and Hicks, Andrew A and Hattori, Nobutaka and Klein, Christine and Jeon, Beom and Kim, Yun J and Lesage, Suzanne and Lin, Juei-Jueng and Lynch, Timothy and Lichtner, Peter and Lang, Anthony E and Mok, Vincent and Jasinska-Myga, Barbara and Mellick, George D and Morrison, Karen E and Opala, Grzegorz and Pihlstrøm, Lasse and Pramstaller, Peter P and Park, Sung S and Quattrone, Aldo and Rogaeva, Ekaterina and Ross, Owen A and Stefanis, Leonidas and Stockton, Joanne D and Silburn, Peter A and Theuns, Jessie and Tan, Eng K and Tomiyama, Hiroyuki and Toft, Mathias and Van Broeckhoven, Christine and Uitti, Ryan J and Wirdefeldt, Karin and Wszolek, Zbigniew and Xiromerisiou, Georgia and Yueh, Kuo-Chu and Zhao, Yi and Gasser, Thomas and Maraganore, Demetrius M and Krüger, Rejko and Sharma, Manu and GEO-PD Consortium
Neurology, ISSN 0028-3878, 10/2015, Volume 85, Issue 15, pp. 1283 - 1292
OBJECTIVES:We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson... 
HETEROGENEITY | PHENOTYPE | ATAXIN-2 | CLINICAL NEUROLOGY | SCA-2 | FAMILY | Ataxins - genetics | Gene Frequency - genetics | Genetic Predisposition to Disease | Humans | Middle Aged | Peptides - genetics | Male | Nuclear Proteins - metabolism | Risk | Parkinson Disease - genetics | Ataxins - metabolism | Nerve Tissue Proteins - genetics | Phenotype | Parkinson Disease - epidemiology | Trinucleotide Repeat Expansion - genetics | Female | Aged | Nuclear Proteins - genetics | 165 | 298
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11. Full Text Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese family
by Yeh, Tu-Hsueh and Lin, Juei-Jueng and Lai, Szu-Chia and Wu-Chou, Yah-Huei and Chen, An-Chih and Yueh, Kuo-Chu and Chen, Rou-Shayn and Lu, Chin-Song
Journal of the Neurological Sciences, ISSN 0022-510X, 2012, Volume 323, Issue 1, pp. 80 - 84
Abstract Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD,... 
Neurology | Autosomal dominant | Genotype–phenotype correlation | Paroxysmal nonkinesigenic dyskinesia (PNKD) | Myofibrillogenesis regulator 1 (MR-1) gene | Benzodiazepines | Paroxysmal dyskinesia | Genotype-phenotype correlation | NON-KINESIGENIC DYSKINESIA | NEUROSCIENCES | CLINICAL NEUROLOGY | MUTATIONS | LINKAGE | MYOFIBRILLOGENESIS REGULATOR-1 | DYSTONIC CHOREOATHETOSIS | Humans | Middle Aged | Symptom Assessment | Caffeine - adverse effects | Child, Preschool | Molecular Sequence Data | Male | Genes, Dominant | DNA Mutational Analysis | Base Sequence | Adult | Female | Clonazepam - therapeutic use | Muscle Proteins - physiology | Amino Acid Sequence | Chorea - physiopathology | Chorea - drug therapy | Sleep Deprivation - complications | Muscle Proteins - genetics | Point Mutation | Chorea - epidemiology | Pedigree | Taiwan - epidemiology | Age of Onset | Heterozygote | Chorea - genetics | Stress, Psychological - complications | Genes | Genetic research | Family | Genetic aspects | Stress (Psychology) | Sleep deprivation | Movement disorders | Age
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12. Full Text Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study
by Wang, Lisa and Heckman, Michael G and Aasly, Jan O and Annesi, Grazia and Bozi, Maria and Chung, Sun Ju and Clarke, Carl and Crosiers, David and Eckstein, Gertrud and Garraux, Gaetan and Hadjigeorgiou, Georgios M and Hattori, Nobu and Jeon, Beom and Kim, Yun J and Kubo, Masato and Lesage, Suzanne and Lin, Juei Jueng and Lynch, Timothy and Lichtner, Peter and Mellick, George D and Mok, Vincent and Morrison, Karin E and Quattrone, Aldo and Satake, Wataru and Silburn, Peter A and Stefanis, Leonidas and Stockton, Joanne D and Tan, Eng King and Toda, Tatsushi and Brice, Alexis and Van Broeckhoven, Christine and Uitti, Ryan J and Wirdefeldt, Karin and Wszolek, Zbigniew and Xiromerisiou, Georgia and Maraganore, Demetrius M and Gasser, Thomas and Krüger, Rejko and Farrer, Matthew J and Ross, Owen A and Sharma, Manu and GEOPD Consortium
Neurobiology of Aging, ISSN 0197-4580, 01/2017, Volume 49, pp. 217.e1 - 217.e4
A recent study MacLeod et al. has shown that an interaction between variants at the and loci influences risk of development of Parkinson's disease (PD). Our... 
PARK16 | Parkinson's disease | Genetic epidemiology | LRRK2 | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Genetic Predisposition to Disease - genetics | Multicenter Studies as Topic | Genetic Association Studies | Humans | Genetic Loci - genetics | Risk | Epistasis, Genetic - genetics | Genetic Variation - genetics | Parkinson Disease - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics | Medicine, Experimental | Medical research | Index Medicus
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13. Full Text A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
by Krüger, Rejko and Sharma, Manu and Riess, Olaf and Gasser, Thomas and Van Broeckhoven, Christine and Theuns, Jessie and Aasly, Jan and Annesi, Grazia and Bentivoglio, Anna Rita and Brice, Alexis and Djarmati, Ana and Elbaz, Alexis and Farrer, Matthew and Ferrarese, Carlo and Gibson, J. Mark and Hadjigeorgiou, Georgios M and Hattori, Nobutaka and Ioannidis, John P.A and Jasinska-Myga, Barbara and Klein, Christine and Lambert, Jean-Charles and Lesage, Suzanne and Lin, Juei-Jueng and Lynch, Timothy and Mellick, George D and de Nigris, Francesa and Opala, Grzegorz and Prigione, Alessandro and Quattrone, Aldo and Ross, Owen A and Satake, Wataru and Silburn, Peter A and Tan, Eng King and Toda, Tatsushi and Tomiyama, Hiroyuki and Wirdefeldt, Karin and Wszolek, Zbigniew and Xiromerisiou, Georgia and Maraganore, Demetrius M and Genetic Epidemiology Parkinson's and Genetic Epidemiology of Parkinson's disease consortium
Neurobiology of Aging, ISSN 0197-4580, 2009, Volume 32, Issue 3, pp. 548.e9 - 548.e18
Abstract High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility.... 
Neurology | Internal Medicine | Genetics | PARK13 | Omi | HtrA2 | Parkinson's disease | VARIABILITY | UNCERTAINTY | MUTATIONS | NEUROSCIENCES | EARLY-ONSET PARKINSONISM | GENOME-WIDE ASSOCIATION | GERIATRICS & GERONTOLOGY | Genetic Predisposition to Disease | Genome-Wide Association Study | Meta-Analysis as Topic | Gene Frequency | Humans | Middle Aged | Genotype | Male | International Cooperation | Mitochondrial Proteins - genetics | Parkinson Disease - genetics | Chi-Square Distribution | European Continental Ancestry Group - ethnology | High-Temperature Requirement A Serine Peptidase 2 | Serine Endopeptidases - genetics | Parkinson Disease - epidemiology | Polymorphism, Single Nucleotide - genetics | Female | Aged | Parkinson Disease - ethnology | Cohort Studies | Medical colleges | Medical research | Anopheles | Neurosciences | Medical genetics | Medicine, Experimental | Genetic research | Biological apparatus and supplies | Cytogenetics | Disease susceptibility
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