Search Results - "Jochim, Angela"

Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up by Zech, Michael, Boesch, Sylvia, Jochim, Angela, Weber, Sandrina, Meindl, Tobias, Schormair, Barbara, Wieland, Thomas, Lunetta, Christian, Sansone, Valeria, Messner, Michael, Mueller, Joerg, Ceballos‐Baumann, Andres, Strom, Tim M., Colombo, Roberto, Poewe, Werner, Haslinger, Bernhard, Winkelmann, Juliane

“…ABSTRACT Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line testing tool for heterogeneous inherited disorders,…”
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Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia by Mantel, Tobias, Dresel, Christian, Welte, Michael, Meindl, Tobias, Jochim, Angela, Zimmer, Claus, Haslinger, Bernhard

“…Adductor-type spasmodic dysphonia (ADSD) manifests in effortful speech temporarily relievable by botulinum neurotoxin type A (BoNT-A). Previously, abnormal…”
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Nationwide Retrospective Analysis of Combinations of Advanced Therapies in Patients With Parkinson Disease by Pürner, Dominik, Hormozi, Mohammad, Weiß, Daniel, Barbe, Michael T, Jergas, Hannah, Prell, Tino, Gülke, Eileen, Pötter-Nerger, Monika, Falkenburger, Björn, Klingelhöfer, Lisa, Gutsmiedl, Pia K, Haslinger, Bernhard, Jochim, Angela M, Wolff, Andreas, Schröter, Nils, Rijntjes, Michel, van Riesen, Christoph, Scheller, Ute, Wolz, Martin, Amouzandeh, Ali, Ebersbach, Georg, Gruber, Doreen, Kohl, Zacharias, Maetzler, Walter, Paschen, Steffen, Pérez-González, Pablo, Rozanski, Verena, Schwarz, Johannes, Südmeyer, Martin, Torka, Elisabeth, Wesbuer, Simone, Bornmann, Sarah, Flöel, Agnes, Ip, Chi Wang, Krause, Patricia, Kühn, Andrea A, Csoti, Ilona, Herting, Birgit, van de Loo, Simone, Basheer, Aniz Ahammed, Liszka, Robert, Jost, Wolfgang H, Koschel, Jiri, Haller, Bernhard, Lingor, Paul

“…Advanced therapies (ATs; deep brain stimulation [DBS] or pump therapies: continuous subcutaneous apomorphine infusion [CSAI], levodopa/carbidopa intestinal gel…”
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Altered functional connectivity in blepharospasm/orofacial dystonia by Jochim, Angela, Li, Yong, Gora‐Stahlberg, Gina, Mantel, Tobias, Berndt, Maria, Castrop, Florian, Dresel, Christian, Haslinger, Bernhard

“…Introduction Blepharospasm is characterized by involuntary eyelid spasms. It can be associated with perioral dystonia (Meige's syndrome or orofacial dystonia)…”
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Thalamic structural connectivity profiles in blepharospam/Meige’s syndrome by Mantel, Tobias, Jochim, Angela, Meindl, Tobias, Deppe, Jonas, Zimmer, Claus, Li, Yong, Haslinger, Bernhard

“…•Thalamic structural connectivity (SC) is reduced in blepharospasm/Meige’s syndrome.•Reduced pre-/motor thalamic SC suggests dysfunction of thalamus-relayed…”
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Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing by Zech, Michael, Jech, Robert, Wagner, Matias, Mantel, Tobias, Boesch, Sylvia, Nocker, Michael, Jochim, Angela, Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Kemlink, David, Roth, Jan, Strom, Tim M., Poewe, Werner, Růžička, Evžen, Haslinger, Bernhard, Winkelmann, Juliane

“…Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to…”
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Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders by Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C, Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T, Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane

“…Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the…”
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Network-specific resting-state connectivity changes in the premotor-parietal axis in writer's cramp by Mantel, Tobias, Meindl, Tobias, Li, Yong, Jochim, Angela, Gora-Stahlberg, Gina, Kräenbring, Jona, Berndt, Maria, Dresel, Christian, Haslinger, Bernhard

“…Writer's cramp is a task-specific dystonia impairing writing and sometimes other fine motor tasks. Neuroimaging studies using manifold designs have shown…”
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Structure-function abnormalities in cortical sensory projections in embouchure dystonia by Mantel, Tobias, Altenmüller, Eckart, Li, Yong, Lee, André, Meindl, Tobias, Jochim, Angela, Zimmer, Claus, Haslinger, Bernhard

“…•Abnormal diffusion metrics are observed in sensory(motor) projections in ED.•Left S1-putamen trajectory diffusion changes associate with putaminal FC…”
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IRAG determines nitric oxide- and atrial natriuretic peptide-mediated smooth muscle relaxation by Desch, Matthias, Sigl, Katja, Hieke, Bernhard, Salb, Katharina, Kees, Frieder, Bernhard, Dominik, Jochim, Angela, Spiessberger, Beate, Höcherl, Klaus, Feil, Robert, Feil, Susanne, Lukowski, Robert, Wegener, Jörg W., Hofmann, Franz, Schlossmann, Jens

“…Aims Nitric oxide (NO) and atrial natriuretic peptide (ANP) signalling via cGMP controls smooth muscle tone. One important signalling pathway of cGMP-dependent…”
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Status epilepticus after subthalamic deep brain stimulation surgery in a patient with Parkinson´s disease by Jochim, Angela, MD, Gempt, Jens, MD, Deschauer, Marcus, MD, Schwarz, Johannes, MD, Kirschke, Jan Stefan, MD, Haslinger, Bernhard, MD

“…Background Subthalamic deep brain stimulation is a well-established treatment for patients with Parkinson´s disease who suffer from severe motor fluctuations…”
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Influence of the HLA-DRB1 genotype on antibody development to interferon beta in multiple sclerosis by Buck, Dorothea, Cepok, Sabine, Hoffmann, Steve, Grummel, Verena, Jochim, Angela, Berthele, Achim, Hartung, Hans-Peter, Wassmuth, Ralf, Hemmer, Bernhard

“…To determine relevant HLA-DRB1 alleles associated with the susceptibility of anti-interferon beta antibody development in a large patient cohort. In a…”
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Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice by Jochim, Angela, Meindl, Tobias, Mantel, Tobias, Zwirner, Silke, Zech, Michael, Castrop, Florian, Haslinger, Bernhard

“…Introduction Treatment with botulinum toxin A is the evidence-based first-line therapy of cervical dystonia. The aim of this study was to analyze long-term…”
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Treatment of blepharospasm and Meige’s syndrome with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice by Jochim, Angela, Meindl, Tobias, Huber, Christoph, Mantel, Tobias, Zwirner, Silke, Castrop, Florian, Haslinger, Bernhard

“…Introduction Thirty years after their approval, botulinum toxin injections still are the first-line therapy for blepharospasm. The aim of our study was to…”
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The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27) by Jochim, Angela, Zech, Michael, Gora-Stahlberg, Gina, Winkelmann, Juliane, Haslinger, Bernhard

“…ABSTRACT Background and Purpose We recently identified mutations in the a3 (VI) collagen gene COL6A3 that cause autosomal‐recessive isolated dystonia (DYT27)…”
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Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia by Zech, Michael, Lam, Daniel D., Francescatto, Ludmila, Schormair, Barbara, Salminen, Aaro V., Jochim, Angela, Wieland, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Lochmüller, Hanns, Strom, Tim M., Haslinger, Bernhard, Katsanis, Nicholas, Winkelmann, Juliane

“…Isolated dystonia is a disorder characterized by involuntary twisting postures arising from sustained muscle contractions. Although autosomal-dominant…”
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Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls by Zech, Michael, Gross, Nadine, Jochim, Angela, Castrop, Florian, Kaffe, Maria, Dresel, Christian, Lichtner, Peter, Peters, Annette, Gieger, Christian, Meitinger, Thomas, Haslinger, Bernhard, Winkelmann, Juliane

“…ABSTRACT Background Rare autosomal‐dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion…”
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Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia) by Jochim, Angela, Li, Yong, Zech, Michael, Lam, Daniel, Gross, Nadine, Koch, Kathrin, Zimmer, Claus, Winkelmann, Juliane, Haslinger, Bernhard

“…Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3…”
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Abnormalities in grey matter structure in embouchure dystonia by Mantel, Tobias, Altenmüller, Eckart, Li, Yong, Meindl, Tobias, Jochim, Angela, Lee, André, Zimmer, Claus, Dresel, Christian, Haslinger, Bernhard

“…Embouchure dystonia (ED) is a debilitating movement disorder in professional brass players leading to involuntary muscle contractions/spasms during play. To…”
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DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family by Zech, Michael, Castrop, Florian, Schormair, Barbara, Jochim, Angela, Wieland, Thomas, Gross, Nadine, Lichtner, Peter, Peters, Annette, Gieger, Christian, Meitinger, Thomas, Strom, Tim M., Oexle, Konrad, Haslinger, Bernhard, Winkelmann, Juliane

“…Recessive DYT16 dystonia associated with mutations in PRKRA has until now been reported only in seven Brazilian patients. The aim of this study was to…”
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