Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Pellerin, David; Danzi, Matt C; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josée; Scriba, Carolin K; Ashton, Catherine; Yanick, Christopher; Beijer, Danique; Rebelo, Adriana; Rocca, Clarissa; Jaunmuktane, Zane; Sonnen, Joshua A; Larivière, Roxanne; Genís, David; Molina Porcel, Laura; Choquet, Karine; Sakalla, Rawan; Provost, Sylvie; Robertson, Rebecca; Allard-Chamard, Xavier; Tétreault, Martine; Reiling, Sarah J; Nagy, Sara; Nishadham, Vikas; Purushottam, Meera; Vengalil, Seena; Bardhan, Mainak; Nalini, Atchayaram; Chen, Zhongbo; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Ragoussis, Jiannis; Boycott, Kym M; Dubé, Marie-Pierre; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel G; Lamont, Phillipa J; Saporta, Mario A; Schüle, Rebecca; Schöls, Ludger; La Piana, Roberta; Synofzik, Matthis.

N Engl J Med ; 388(2): 128-141, 2023 01 12.

Artigo em Inglês | MEDLINE | ID: mdl-36516086

2.

IntroVerse: a comprehensive database of introns across human tissues.

García-Ruiz, Sonia; Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martínez, Ana Luisa; Botia, Juan A; Collado-Torres, Leonardo; Ryten, Mina.

Nucleic Acids Res ; 51(D1): D167-D178, 2023 01 06.

Artigo em Inglês | MEDLINE | ID: mdl-36399497

3.

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Chen, Zhongbo; Gustavsson, Emil K; Macpherson, Hannah; Anderson, Claire; Clarkson, Chris; Rocca, Clarissa; Self, Eleanor; Alvarez Jerez, Pilar; Scardamaglia, Annarita; Pellerin, David; Montgomery, Kylie; Lee, Jasmaine; Gagliardi, Delia; Luo, Huihui; Hardy, John; Polke, James; Singleton, Andrew B; Blauwendraat, Cornelis; Mathews, Katherine D; Tucci, Arianna; Fu, Ying-Hui; Houlden, Henry; Ryten, Mina; Ptácek, Louis J.

Mov Disord ; 39(3): 486-497, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38197134

4.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; Vestito, Letizia; García, Alejandro Cisterna; Sethi, Siddharth; Brenton, Jonathan W; García-Ruiz, Sonia; Fairbrother-Browne, Aine; Gil-Martinez, Ana-Luisa; Wood, Nick; Hardy, John A; Smedley, Damian; Houlden, Henry; Botía, Juan; Ryten, Mina.

Brain ; 146(7): 2869-2884, 2023 07 03.

Artigo em Inglês | MEDLINE | ID: mdl-36624280

5.

Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration.

Estevez-Fraga, Carlos; Altmann, Andre; Parker, Christopher S; Scahill, Rachael I; Costa, Beatrice; Chen, Zhongbo; Manzoni, Claudia; Zarkali, Angeliki; Durr, Alexandra; Roos, Raymund A C; Landwehrmeyer, Bernhard; Leavitt, Blair R; Rees, Geraint; Tabrizi, Sarah J; McColgan, Peter.

Brain ; 146(11): 4532-4546, 2023 11 02.

Artigo em Inglês | MEDLINE | ID: mdl-37587097

6.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.

Chen, Zhongbo; Reynolds, Regina H; Pardiñas, Antonio F; Gagliano Taliun, Sarah A; van Rheenen, Wouter; Lin, Kuang; Shatunov, Aleksey; Gustavsson, Emil K; Fogh, Isabella; Jones, Ashley R; Robberecht, Wim; Corcia, Philippe; Chiò, Adriano; Shaw, Pamela J; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Silani, Vincenzo; Hardy, John A; Houlden, Henry; Owen, Michael J; Turner, Martin R; Ryten, Mina; Al-Chalabi, Ammar.

Neurobiol Dis ; 180: 106082, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36925053

7.

PhenoExam: gene set analyses through integration of different phenotype databases.

Cisterna, Alejandro; González-Vidal, Aurora; Ruiz, Daniel; Ortiz, Jordi; Gómez-Pascual, Alicia; Chen, Zhongbo; Nalls, Mike; Faghri, Faraz; Hardy, John; Díez, Irene; Maietta, Paolo; Álvarez, Sara; Ryten, Mina; Botía, Juan A.

BMC Bioinformatics ; 23(1): 567, 2022 Dec 31.

Artigo em Inglês | MEDLINE | ID: mdl-36587217

8.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Chen, Zhongbo; Tucci, Arianna; Ryten, Mina.

N Engl J Med ; 388(21): e70, 2023 May 25.

Artigo em Inglês | MEDLINE | ID: mdl-37224215

9.

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.

Yau, Wai Yan; Vandrovcova, Jana; Sullivan, Roisin; Chen, Zhongbo; Zecchinelli, Anna; Cilia, Roberto; Duga, Stefano; Murray, Malgorzata; Carmona, Susana; Chelban, Viorica; Ishiura, Hiroyuki; Tsuji, Shoji; Jaunmuktane, Zane; Turner, Chris; Wood, Nicholas W; Houlden, Henry.

Mov Disord ; 36(1): 251-255, 2021 01.

Artigo em Inglês | MEDLINE | ID: mdl-33026126

10.

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

Chen, Zhongbo; Maroofian, Reza; Basak, A Nazli; Shingavi, Leena; Karakaya, Mert; Efthymiou, Stephanie; Gustavsson, Emil K; Meier, Leyla; Polavarapu, Kiran; Vengalil, Seena; Preethish-Kumar, Veeramani; Nandeesh, Bevinahalli N; Gökçe Günes, Nalan; Akan, Onur; Candan, Fatma; Schrank, Bertold; Zuchner, Stephan; Murphy, David; Kapoor, Mahima; Ryten, Mina; Wirth, Brunhilde; Reilly, Mary M; Nalini, Atchayaram; Houlden, Henry; Sarraf, Payam.

Eur J Neurol ; 28(4): 1344-1355, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33220101

11.

Icotinib-resistant HCC827 cells produce exosomes with mRNA MET oncogenes and mediate the migration and invasion of NSCLC.

Yu, Yiming; Abudula, Maidinaimu; Li, Chaofen; Chen, Zhongbo; Zhang, Yun; Chen, Yichen.

Respir Res ; 20(1): 217, 2019 Oct 12.

Artigo em Inglês | MEDLINE | ID: mdl-31606039

12.

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Chen, Zhongbo; Chen, Jason A; Shatunov, Aleksey; Jones, Ashley R; Kravitz, Stephanie N; Huang, Alden Y; Lawrence, Lauren; Lowe, Jennifer K; Lewis, Cathryn M; Payan, Christine A M; Lieb, Wolfgang; Franke, Andre; Deloukas, Panagiotis; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Ludolph, Albert; Bensimon, Gilbert; Leigh, P Nigel; Bronstein, Jeff M; Coppola, Giovanni; Geschwind, Daniel H; Al-Chalabi, Ammar.

Mov Disord ; 34(7): 1049-1059, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-31059154

13.

Vascular Endothelial Growth Factor-D (VEGF-D) is Elevated in Bronchoalveolar Lavage Fluid of Patients with Lung Squamous Carcinoma.

Lv, Dan; Tan, Lin; Zhang, Qihe; Ma, Hongying; Zhang, Yun; Zhang, Qiaoli; Yu, Yiming; Chen, Zhongbo; Ding, Qunli; Deng, Zaichun.

Clin Lab ; 65(1)2019 Jan 01.

Artigo em Inglês | MEDLINE | ID: mdl-30775896

14.

Triple Inhaled Therapy in COPD.

Chen, Zhongbo; Deng, Zaichun; Ding, Qunli.

N Engl J Med ; 383(14): 1393, 2020 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-32997920

15.

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.

Yau, Wai Yan; Sullivan, Roisin; Chen, Zhongbo; Lynch, David S; Vandrovcova, Jana; Wood, Nicholas W; Houlden, Henry.

Ann Neurol ; 88(3): 641-642, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32542757

16.

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.

Yau, Wai Yan; O'Connor, Emer; Chen, Zhongbo; Vandrovcova, Jana; Wood, Nicholas W; Houlden, Henry.

Brain ; 143(7): e57, 2020 07 01.

Artigo em Inglês | MEDLINE | ID: mdl-32516806

17.

Sneddon's syndrome: it is all in the ectoderm.

Rutter-Locher, Zoe; Chen, Zhongbo; Flores, Lorena; Basu, Tanya; Creamer, Daniel; Weeks, Robert; Arya, Roopen; Nashef, Lina.

Pract Neurol ; 16(4): 300-3, 2016 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-26968196

18.

A functional EGF+61 polymorphism is associated with severity of obstructive sleep apnea.

Ding, Qunli; Cao, Chao; Chen, Zhongbo; Tabusi, Mahebali; Chen, Li; Deng, Zaichun.

Sleep Breath ; 19(2): 495-8, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25028172

19.

[Combination of narrow band imaging (NBI) and autofluorescence bronchoscopy (AFB) in the assessment of central lung cancer].

Chen, Zhongbo; Yu, Yiming; Sun, Shifang; Ma, Hongying; Zhang, Qiaoli; Lyu, Dan; Wang, Bijiong; Niu, Liming; Cao, Chao; Ding, Qunli; Deng, Zaichun.

Zhonghua Jie He He Hu Xi Za Zhi ; 37(3): 184-7, 2014 Mar.

Artigo em Zh | MEDLINE | ID: mdl-24809708

20.

The value of calcofluor white in the diagnosis of invasive fungal diseases.

Zhang, Shuya; Chen, Zhongbo; Deng, Zaichun; Fu, Panfeng; Yu, Yiming; Zhuang, Qidong; Yu, Xuechan; Chen, Hui; Li, Anqi; Zheng, Lin.

Diagn Microbiol Infect Dis ; 108(4): 116186, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38278003

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

IntroVerse: a comprehensive database of introns across human tissues.

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.

PhenoExam: gene set analyses through integration of different phenotype databases.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

Icotinib-resistant HCC827 cells produce exosomes with mRNA MET oncogenes and mediate the migration and invasion of NSCLC.

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Vascular Endothelial Growth Factor-D (VEGF-D) is Elevated in Bronchoalveolar Lavage Fluid of Patients with Lung Squamous Carcinoma.

Triple Inhaled Therapy in COPD.

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.

Sneddon's syndrome: it is all in the ectoderm.

A functional EGF+61 polymorphism is associated with severity of obstructive sleep apnea.

[Combination of narrow band imaging (NBI) and autofluorescence bronchoscopy (AFB) in the assessment of central lung cancer].

The value of calcofluor white in the diagnosis of invasive fungal diseases.