Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Hoa Huu Phuc Nguyen"'
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:
Rosa Catalina Lederbogen, Sabine Hoffjan, Charlotte Thiels, Ulrike Angelika Mau-Holzmann, Sylke Singer, Maria Viktorovna Yusenko, Hoa Huu Phuc Nguyen, Wanda Maria Gerding
Publikováno v:
Genes, Vol 15, Iss 6, p 809 (2024)
While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectu
Externí odkaz:
https://doaj.org/article/ec087d27bf784811ab02ab6bec3417fe
Autor:
Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, Elisabeth Singer, Aurélie Eisenmann, Zaneta Kalinowska-Poska, Hoa Huu Phuc Nguyen, Agnieszka Fiszer, Maciej Figiel, Yvon Trottier
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4354 (2024)
Polyglutamine (polyQ)-encoding CAG repeat expansions represent a common disease-causing mutation responsible for several dominant spinocerebellar ataxias (SCAs). PolyQ-expanded SCA proteins are toxic for cerebellar neurons, with Purkinje cells (PCs)
Externí odkaz:
https://doaj.org/article/4e2d6384325841c7a1537de20931963b
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
Autor:
Leoni S. Erbe, Sabine Hoffjan, Sören Janßen, Moritz Kneifel, Karsten Krause, Wanda M. Gerding, Kristina Döring, Anne-Katrin Güttsches, Andreas Roos, Elena Buena Atienza, Caspar Gross, Thomas Lücke, Hoa Huu Phuc Nguyen, Matthias Vorgerd, Cornelia Köhler
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14716 (2023)
Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutati
Externí odkaz:
https://doaj.org/article/3ec8e1bd14f54769a046f4c0a9412e16
Autor:
Verena Nilius-Eliliwi, Marco Tembrink, Wanda Maria Gerding, Krzystof P. Lubieniecki, Joanna M. Lubieniecka, Stefanie Kankel, Thomas Liehr, Thomas Mika, Fotios Dimopoulos, Konstanze Döhner, Roland Schroers, Hoa Huu Phuc Nguyen, Deepak Ben Vangala
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to
Externí odkaz:
https://doaj.org/article/239df1092c224ff3a861dde340cd6900
Autor:
Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost
Publikováno v:
Genes, Vol 13, Iss 10, p 1752 (2022)
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clea
Externí odkaz:
https://doaj.org/article/1e52ed2aebce413a9bcd5e7f65fdbac5
Autor:
Libo Yu-Taeger, Janice Stricker-Shaver, Katrin Arnold, Patrycja Bambynek-Dziuk, Arianna Novati, Elisabeth Singer, Ali Lourhmati, Claire Fabian, Janine Magg, Olaf Riess, Matthias Schwab, Alexandra Stolzing, Lusine Danielyan, Hoa Huu Phuc Nguyen
Publikováno v:
Cells, Vol 8, Iss 6, p 595 (2019)
Intrastriatal administration of mesenchymal stem cells (MSCs) has shown beneficial effects in rodent models of Huntington disease (HD). However, the invasive nature of surgical procedure and its potential to trigger the host immune response may limit
Externí odkaz:
https://doaj.org/article/a1cc28f483b44180a8ee4c7e39c3904f
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