Search Results - "Müller, Juliane S."

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome by O'Connor, Emily, Töpf, Ana, Müller, Juliane S, Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H, Lochmüller, Hanns

“…Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the…”
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Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy by Beeson, David, Higuchi, Osamu, Palace, Jackie, Cossins, Judy, Spearman, Hayley, Maxwell, Susan, Newsom-Davis, John, Burke, Georgina, Fawcett, Peter, Motomura, Masakatsu, Müller, Juliane S, Lochmüller, Hanns, Slater, Clarke, Vincent, Angela, Yamanashi, Yuji

“…Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major…”
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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy by Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.

“…The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and…”
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases by Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita

“…Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe…”
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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients by Abicht, Angela, Dusl, Marina, Gallenmüller, Constanze, Guergueltcheva, Velina, Schara, Ulrike, Della Marina, Adele, Wibbeler, Eva, Almaras, Sybille, Mihaylova, Violeta, von der Hagen, Maja, Huebner, Angela, Chaouch, Amina, Müller, Juliane S., Lochmüller, Hanns

“…Congenital myasthenic syndromes (CMSs) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Even though…”
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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons by Boczonadi, Veronika, Meyer, Kathrin, Gonczarowska-Jorge, Humberto, Griffin, Helen, Roos, Andreas, Bartsakoulia, Marina, Bansagi, Boglarka, Ricci, Giulia, Palinkas, Fanni, Zahedi, René P, Bruni, Francesco, Kaspar, Brian, Lochmüller, Hanns, Boycott, Kym M, Müller, Juliane S, Horvath, Rita

“…Abstract The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different…”
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RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels by Müller, Juliane S, Burns, David T, Griffin, Helen, Wells, Graeme R, Zendah, Romance A, Munro, Benjamin, Schneider, Claudia, Horvath, Rita

“…The RNA exosome is a ubiquitously expressed complex of nine core proteins (EXOSC1-9) and associated nucleases responsible for RNA processing and degradation…”
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A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome by Chaouch, Amina, Müller, Juliane S., Guergueltcheva, Velina, Dusl, Marina, Schara, Ulrike, Rakocević-Stojanović, Vidosava, Lindberg, Christopher, Scola, Rosana H., Werneck, Lineu C., Colomer, Jaume, Nascimento, Andres, Vilchez, Juan J., Muelas, Nuria, Argov, Zohar, Abicht, Angela, Lochmüller, Hanns

“…Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by dominant “gain of function” mutations in the acetylcholine receptor…”
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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes by Mihaylova, Violeta, Müller, Juliane S., Vilchez, Juan J., Salih, Mustafa A., Kabiraj, Mohammad M., D’Amico, Adele, Bertini, Enrico, Wölfle, Joachim, Schreiner, Felix, Kurlemann, Gerhard, Rasic, Vedrana Milic, Siskova, Dana, Colomer, Jaume, Herczegfalvi, Agnes, Fabriciova, Katarina, Weschke, Bernhard, Scola, Rosana, Hoellen, Friederike, Schara, Ulrike, Abicht, Angela, Lochmüller, Hanns

“…Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission…”
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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit by Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan

“…Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in…”
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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission by Müller, Juliane S, Mihaylova, Violeta, Abicht, Angela, Lochmüller, Hanns

“…The neuromuscular junction (NMJ) is a complex structure that efficiently communicates the electrical impulse from the motor neuron to the skeletal muscle to…”
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Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations by Müller, Juliane S, Horvath, Rita

“…This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’,…”
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Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish by Munro, Benjamin, Horvath, Rita, Müller, Juliane S

“…Abstract Deoxyguanosine kinase (dGK) is an essential rate-limiting component of the mitochondrial purine nucleotide salvage pathway, encoded by the nuclear…”
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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1) by Chen, Qiushi, Müller, Juliane S, Pang, Poh-Choo, Laval, Steve H, Haslam, Stuart M, Lochmüller, Hanns, Dell, Anne

“…Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the first enzyme of the hexosamine biosynthetic pathway. It transfers an amino group from glutamine to…”
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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy by Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S, Horvath, Rita

“…The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar…”
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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia by Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita

“…The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein…”
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Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency by WOOD, Alasdair J, MÜLLER, Juliane S, JEPSON, Catherine D, LAVAL, Steve H, LOCHMÜLLER, Hanns, BUSHBY, Kate, BARRESI, Rita, STRAUB, Volker

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy by NICOLE, Sophie, CHAOUCH, Amina, COX, Daniel, MÜLLER, Juliane S, EVANGELISTA, Teresinha, STALBERG, Erik, LOOS, Christine, BAROIS, Annie, BROCHIER, Guy, STERNBERG, Damien, FOURNIER, Emmanuel, HANTAÏ, Daniel, TORBERGSEN, Torberg, ABICHT, Angela, DUSL, Marina, LAVAL, Steven H, GRIFFIN, Helen, EYMARD, Bruno, LOCHMÜLLER, Hanns, BAUCHE, Stéphanie, DE BRUYCKERE, Elodie, FONTENILLE, Marie-Joséphine, HORN, Morten A, VAN GHELUE, Marijke, LØSETH, Sissel, ISSOP, Yasmin

“…Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their…”
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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect by Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns

“…Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of…”
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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome by Dusl, Marina, Senderek, Jan, Müller, Juliane S, Vogel, Johannes G, Pertl, Anja, Stucka, Rolf, Lochmüller, Hanns, David, Robert, Abicht, Angela

“…Mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic…”
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