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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
Kuipers, Demy J. S., Mandemakers, Wim, Lu, Chin‐Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi‐Dain, Lena, Wu‐Chou, Yah‐Huei, Chen, Chiung C., Chang, Hsiu‐Chen, Wu, Shey‐Lin, Yeh, Tu‐Hsueh, Weng, Yi‐Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo
Published in Annals of neurology (01.03.2021)
Published in Annals of neurology (01.03.2021)
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Journal Article
PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease
Lu, Chin-Song, Lai, Szu-Chia, Wu, Ruey-Meei, Weng, Yi-Hsin, Huang, Chia-Ling, Chen, Rou-Shayn, Chang, Hsiu-Chen, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Journal Article
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis
Wu-Chou, Yah-Huei, Hung, Tzu-Chao, Lin, Yin-Ting, Cheng, Hsing-Wen, Lin, Ju-Li, Lin, Chih-Hung, Yu, Chung-Chih, Chen, Kuo-Ting, Yeh, Tu-Hsueh, Chen, Yu-Ray
Published in Journal of biomedical science (05.10.2018)
Published in Journal of biomedical science (05.10.2018)
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Journal Article
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations
Sull, Jae Woong, Liang, Kung-Yee, Hetmanski, Jacqueline B., Fallin, Margaret Daniele, Ingersoll, Roxann G., Park, Jiwan, Wu-Chou, Yah-Huei, Chen, Philip K., Chong, Samuel S., Cheah, Felicia, Yeow, Vincent, Park, Beyoung Yun, Jee, Sun Ha, Jabs, Ethylin Wang, Redett, Richard, Jung, Euiju, Ruczinski, Ingo, Scott, Alan F., Beaty, Terri H.
Published in Genetic epidemiology (01.09.2008)
Published in Genetic epidemiology (01.09.2008)
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Journal Article
Neurofibromatosis 2 with peripheral neuropathies: Electrophysiological, pathological and genetic studies of a Taiwanese family
Kuo, Hung-Chou, Chen, Shyue-Ru, Jung, Shih-Ming, Wu Chou, Yah-Huei, Huang, Chin-Chang, Chuang, Wen-Li, Wei, Kuo-Chen, Ro, Long-Sun
Published in Neuropathology (01.10.2010)
Published in Neuropathology (01.10.2010)
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Journal Article
Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2
Lu, Chin-Song, Wu Chou, Yah-Huei, Yen, Tzu-Chen, Tsai, Chon-Haw, Chen, Rou-Shayn, Chang, Hsiu-Chen
Published in Movement disorders (01.09.2002)
Published in Movement disorders (01.09.2002)
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Journal Article
Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson's disease
Chiu, Ching-Chi, Yeh, Tu-Hsueh, Lai, Szu-Chia, Weng, Yi-Hsin, Huang, Yin-Cheng, Cheng, Yi-Chuan, Chen, Rou-Shayn, Huang, Ying-Zu, Hung, June, Chen, Chiung-Chu, Lin, Wey-Yil, Chang, Hsiu-Chen, Chen, Yu-Jie, Chen, Chao-Lang, Chen, Hsin-Yi, Lin, Yan-Wei, Wu-Chou, Yah-Huei, Wang, Hung-Li, Lu, Chin-Song
Published in Oncotarget (23.08.2016)
Published in Oncotarget (23.08.2016)
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Journal Article
ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population
Wang, Hong, Hetmanski, Jacqueline B, Ruczinski, Ingo, Liang, Kung Yee, Fallin, M Daniele, Redett, Richard J, Raymond, Gerald V, Chou, Yah-Huei Wu, Chen, Philip Kuo-Ting, Yeow, Vincent, Chong, Samuel S, Cheah, Felicia Sh, Jabs, Ethylin Wang, Scott, Alan F, Beaty, Terri H
Published in Chinese medical journal (01.02.2012)
Published in Chinese medical journal (01.02.2012)
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Journal Article
Joint Testing of Genotypic and Gene-Environment Interaction Identified Novel Association for BMP4 with Non-Syndromic CL/P in an Asian Population Using Data from an International Cleft Consortium
Chen, Qianqian, Wang, Hong, Schwender, Holger, Zhang, Tianxiao, Hetmanski, Jacqueline B., Chou, Yah-Huei Wu, Ye, Xiaoqian, Yeow, Vincent, Chong, Samuel S., Zhang, Bo, Jabs, Ethylin Wang, Parker, Margaret M., Scott, Alan F., Beaty, Terri H.
Published in PloS one (10.10.2014)
Published in PloS one (10.10.2014)
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Journal Article
BMP4 Was Associated with NSCL/P in an Asian Population
Chen, Qianqian, Wang, Hong, Hetmanski, Jacqueline B., Zhang, Tianxiao, Ruczinski, Ingo, Schwender, Holger, Liang, Kung Yee, Fallin, M. Daniele, Redett, Richard J., Raymond, Gerald V., Wu Chou, Yah-Huei, Chen, Philip Kuo-Ting, Yeow, Vincent, Chong, Samuel S., Cheah, Felicia S. H., Jabs, Ethylin Wang, Scott, Alan F., Beaty, Terri H.
Published in PloS one (13.04.2012)
Published in PloS one (13.04.2012)
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Journal Article
Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy
Yeh, Jih-Kai, Liu, Wei-Hsiu, Wang, Chao-Yung, Lu, Jang-Jih, Chen, Chien-Hsiun, Wu-Chou, Yah-Huei, Chang, Pi-Yueh, Chang, Shih-Cheng, Yang, Chia-Hung, Tsai, Ming-Lung, Ho, Ming-Yun, Hsieh, I-Chang, Wen, Ming-Shien
Published in Acta Cardiologica Sinica (01.11.2019)
Published in Acta Cardiologica Sinica (01.11.2019)
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Journal Article
The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate
Wang, Hong, Zhang, Tianxiao, Wu, Tao, Hetmanski, Jacqueline B., Ruczinski, Ingo, Schwender, Holger, Yee Liang, Kung, Murray, Tanda, Daniele Fallin, M., Redett, Richard J., Raymond, Gerald V., Jin, Sheng-Chih, Wu Chou, Yah-Huei, Kuo-Ting Chen, Philip, Yeow, Vincent, Chong, Samuel S., Cheah, Felicia S.H., Ha Jee, Sun, Jabs, Ethylin W., Scott, Alan F., Beaty, Terri H.
Published in The Cleft palate-craniofacial journal (01.01.2013)
Published in The Cleft palate-craniofacial journal (01.01.2013)
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Journal Article
Neuronal intranuclear inclusion disease: Two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia
Lai, Szu-Chia, Jung, Shih-Ming, Grattan-Smith, Padraic, Sugo, Ella, Lin, Yen-Wen, Chen, Rou-Shayn, Chen, Chiung-Chu, Wu-Chou, Yah-Huei, Lang, Anthony E., Lu, Chin-Song
Published in Movement disorders (15.07.2010)
Published in Movement disorders (15.07.2010)
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Journal Article
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
Chang, Ming-Yang, Chen, Hsiao-Mang, Jenq, Chang-Chyi, Lee, Shen-Yang, Chen, Yu-Ming, Tian, Ya-Chung, Chen, Yung-Chang, Hung, Cheng-Chieh, Fang, Ji-Tseng, Yang, Chih-Wei, Wu-Chou, Yah-Huei
Published in Journal of human genetics (01.11.2013)
Published in Journal of human genetics (01.11.2013)
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Journal Article
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
Quadri, Marialuisa, Mandemakers, Wim, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Fabrizio, Edito, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Chang, Hsiu-Chen, Parchi, Piero, Correia Guedes, Leonor, Thomas, Astrid, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Sarchioto, Marianna, Vanacore, Nicola, Olgiati, Simone, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Onofrj, Marco, Barone, Paolo, Nicholl, David J, De Mari, Michele, Barbosa, Egberto, De Michele, Giuseppe, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Lu, Chin-Song, Meco, Giuseppe, Cortelli, Pietro, van de Berg, Wilma D J, Bonifati, Vincenzo, Mandemakers, Wim, Boon, Agnita J.W., Rood, Janneke P.A, Vergouw, Leonie J.M., de Jong, Frank J., van Swieten, John C., Mattace-Raso, Francesco U.S., Leenders, Klaus L., Ferreira, Joaquim J., Correia Guedes, Leonor, Puschmann, Andreas, Ygland, Emil, Nilsson, Christer, Chien, Hsin F., Barbosa, Egberto, Bannach Jardim, Laura, Rieder, Carlos R.M., Chang, Hsiu-Chen, Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Tassorelli, Cristina, Pacchetti, Claudio, Riboldazzi, Giulio, Bono, Giorgio, Comi, Cristoforo, Padovani, Alessandro, Borroni, Barbara, Raudino, Francesco, Tinazzi, Michele, Ferracci, Carlo, Dalla Libera, Alessio, Abbruzzese, Giovanni, Cortelli, Pietro, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, De Mari, Michele, Dell'Aquila, Claudia, Iliceto, Gianni, Toni, Vincenzo, Trianni, Giorgio, Annesi, Grazia, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio
Published in Lancet neurology (01.07.2018)
Published in Lancet neurology (01.07.2018)
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Journal Article
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts
Patel, Poorav J., Beaty, Terri H., Ruczinski, Ingo, Murray, Jeffrey C., Marazita, Mary L., Munger, Ronald G., Hetmanski, Jacqueline B., Wu, Tao, Murray, Tanda, Rose, Margaret, Redett, Richard J., Jin, Sheng C., Lie, Rolv T., Wu-Chou, Yah-Huei, Wang, Hong, Ye, Xiaoqian, Yeow, Vincent, Chong, Samuel, Jee, Sun H., Shi, Bing, Scott, Alan F.
Published in European journal of oral sciences (01.04.2013)
Published in European journal of oral sciences (01.04.2013)
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Journal Article
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia
Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Wang, Chuan-Yu, Lin, Juei-Jueng, Huang, Chin-Chang, Chang, Hsiu-Chen, Lai, Szu-Chia, Chen, Rou-Shayn, Weng, Yi-Hsin, Huang, Chia-Ling, Lu, Chin-Song
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
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Journal Article
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
Pollak, Martin R., Wu Chou, Yah-Huei, Cerda, James J., Steinmann, Beat, La Du, Bert N., Seidman, J. G., Seidman, Christine E.
Published in Nature genetics (01.10.1993)
Published in Nature genetics (01.10.1993)
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Journal Article
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Mélanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A, Kuipers, Demy J S, Quadri, Marialuisa, Corvol, Jean-Christophe, Mhiri, Chokri, Hassan, Bassem A, Breedveld, Guido J, Lesage, Suzanne, Mandemakers, Wim, Brice, Alexis, Bonifati, Vincenzo
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
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Journal Article