Search Results - "Phan, Vietxuan"

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion by O'Connor, Emily, Phan, Vietxuan, Cordts, Isabell, Cairns, George, Hettwer, Stefan, Cox, Daniel, Lochmüller, Hanns, Roos, Andreas

“…Abstract Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction,…”
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Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C by Cipriani, Silvia, Phan, Vietxuan, Médard, Jean-Jacques, Horvath, Rita, Lochmüller, Hanns, Chrast, Roman, Roos, Andreas, Spendiff, Sally

“…The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal…”
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SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human by Phan, Vietxuan, Cox, Dan, Cipriani, Silvia, Spendiff, Sally, Buchkremer, Stephan, O'Connor, Emily, Horvath, Rita, Goebel, Hans Hilmar, Hathazi, Denisa, Lochmüller, Hanns, Straka, Tatjana, Rudolf, Rüdiger, Weis, Joachim, Roos, Andreas

“…Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1…”
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Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation by Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R, OʼSullivan, Julia, Jennings, Matthew J, Whittaker, Roger G, Müller, Juliane S, Duff, Jennifer, Griffin, Helen, Miller, James A.L, Gorman, Grainne S, Lochmüller, Hanns, Chinnery, Patrick F, Roos, Andreas, Swan, Laura E, Horvath, Rita

“…OBJECTIVETo describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog…”
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Molecular mechanisms in chloroquine‐exposed muscle cells elucidated by combined proteomic and microscopic studies by Phan, Vietxuan, Hathazi, Denisa, Preuße, Corinna, Czech, Artur, Freier, Erik, Shema, Gerta, Zahedi, René P., Roos, Andreas

“…Objectives Chloroquine (CQ) is an antimalarial drug with a growing number of applications as recently demonstrated in attempts to treat Covid‐19. For decades,…”
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Molecular pathophysiology of human MICU1 deficiency by Kohlschmidt, Nicolai, Elbracht, Miriam, Czech, Artur, Häusler, Martin, Phan, Vietxuan, Töpf, Ana, Huang, Kai‐Ting, Bartok, Adam, Eggermann, Katja, Zippel, Stephanie, Eggermann, Thomas, Freier, Erik, Groß, Claudia, Lochmüller, Hanns, Horvath, Rita, Hajnóczky, György, Weis, Joachim, Roos, Andreas

“…Aims MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss‐of‐function mutations cause a complex, neuromuscular disorder…”
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Characterization of Naïve and Vitamin C-Treated Mouse Schwann Cell Line MSC80: Induction of the Antioxidative Thioredoxin Related Transmembrane Protein 1 by Phan, Vietxuan, Schmidt, Jens, Matyash, Vitali, Malchow, Sebastian, Thanisch, Michaela, Lorenz, Christin, Diepolder, Irmgard, Schulz, Jörg Bernhard, Stenzel, Werner, Roos, Andreas, Gess, Burkhard

“…Schwann cells (SCs) are essential in the production of the axon-wrapping myelin sheath and provide trophic function and repair mechanisms in the peripheral…”
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Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level by Labisch, Thomas, Buchkremer, Stephan, Phan, Vietxuan, Kollipara, Laxmikanth, Gatz, Christian, Lentz, Chris, Nolte, Kay, Vervoorts, Jörg, Coraspe, José Andrés González, Sickmann, Albert, Carr, Stephanie, Zahedi, René P., Weis, Joachim, Roos, Andreas

“…SIL1 acts as a co-chaperone for the major ER-resident chaperone BiP and thus plays a role in many BiP-dependent cellular functions such as protein-folding…”
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Characterization of Naïve and Vitamin C‑Treated Mouse Schwann Cell Line MSC80: Induction of the Antioxidative Thioredoxin Related Transmembrane Protein 1 by Phan, Vietxuan, Schmidt, Jens, Matyash, Vitali, Malchow, Sebastian, Thanisch, Michaela, Lorenz, Christin, Diepolder, Irmgard, Schulz, Jörg Bernhard, Stenzel, Werner, Roos, Andreas, Gess, Burkhard

“…Schwann cells (SCs) are essential in the production of the axon-wrapping myelin sheath and provide trophic function and repair mechanisms in the peripheral…”
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