Zobrazeno 1 - 10
of 330
pro vyhledávání: '"Huu-Phuc Nguyen"'
Autor:
Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line
Externí odkaz:
https://doaj.org/article/6f3d746642e445f68644bc6897a8aef9
Autor:
Quang Lam Nguyen, Ngan Huu Phuc Nguyen, Anh Phuc Hoang Le, Bao Hoai Pham, Vy Kim Huynh, Thien Hoang Minh Cao, Dong An Bui, Khon Huynh, Huong Thi Thanh Ha
Publikováno v:
Vietnam Journal of Science, Technology and Engineering, Vol 66, Iss 3 (2024)
The Trier social stress test (TSST) is considered as the most appropriate standardized protocol for studying stress hormone reactivity. The TSST is distinct from other stress induction protocols in laboratory settings due to its unique ability to cre
Externí odkaz:
https://doaj.org/article/ff75bcb2b94e495f86fabaa5db1f2ad0
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract This study emphasizes the benefits of open-source software such as DeepLabCut (DLC) and R to automate, customize and enhance data analysis of motor behavior. We recorded 2 different spinocerebellar ataxia type 6 mouse models while performing
Externí odkaz:
https://doaj.org/article/60279aa31a3e436081ba63691f9b13d1
Autor:
Orsolya Kántor, Yasin Temel, Carsten Holzmann, Kerstin Raber, Huu-Phuc Nguyen, Chunyan Cao, Hatice Özen Türkoglu, Bart P.F. Rutten, Veerle Visser-Vandewalle, Harry W.M. Steinbusch, Arjan Blokland, Hubert Korr, Olaf Riess, Stephan von Hörsten, Christoph Schmitz
Publikováno v:
Neurobiology of Disease, Vol 22, Iss 3, Pp 538-547 (2006)
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by selective striatal neuron loss and motor, cognitive and affective disturbances. The present study aimed to test the hypothesis of adult-onset neuron loss in striatu
Externí odkaz:
https://doaj.org/article/f64abdc262b54b85893b77a7deaa3194
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract DNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT). Here we have studied constitution
Externí odkaz:
https://doaj.org/article/7e8f2306aea34783a1ca07f753e296b9
Autor:
Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer
Publikováno v:
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-11 (2023)
Abstract Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may
Externí odkaz:
https://doaj.org/article/d590a3c651f34c46a0ea9583802bc1bd
Autor:
Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer
Publikováno v:
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-10 (2023)
Abstract Introduction Ameliorating symptoms and signs of Huntington’s disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other
Externí odkaz:
https://doaj.org/article/82e711d767b446e48816d7f63ace04bb
Autor:
Ilham El Atiallah, Giulia Ponterio, Maria Meringolo, Giuseppina Martella, Giuseppe Sciamanna, Annalisa Tassone, Martina Montanari, Maria Mancini, Antonio N. Castagno, Libo Yu-Taeger, Hoa Huu Phuc Nguyen, Paola Bonsi, Antonio Pisani
Publikováno v:
Neurobiology of Disease, Vol 191, Iss , Pp 106403- (2024)
Loss-of-function mutations in the GNAL gene are responsible for DYT-GNAL dystonia. However, how GNAL mutations contribute to synaptic dysfunction is still unclear. The GNAL gene encodes the Gαolf protein, an isoform of stimulatory Gαs enriched in t
Externí odkaz:
https://doaj.org/article/d66a430f7a5746dd9ce4d4567c815918
Autor:
Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R. Hayden
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101882- (2024)
ABSTRACT: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurat
Externí odkaz:
https://doaj.org/article/4e9696c78b4448d1923e17da1c298c47
Publikováno v:
Cells, Vol 13, Iss 6, p 469 (2024)
Huntington’s disease (HD), a congenital neurodegenerative disorder, extends its pathological damages beyond the nervous system. The systematic manifestation of HD has been extensively described in numerous studies, including dysfunction in peripher
Externí odkaz:
https://doaj.org/article/68c0c184414a4ba697ff84266ce72fe3