Suchergebnisse - "Amprosi, Matthias"

Peripapillary retinal nerve fibre layer as measured by optical coherence tomography is a prognostic biomarker not only for physical but also for cognitive disability progression in multiple sclerosis von Bsteh, Gabriel, Hegen, Harald, Teuchner, Barbara, Amprosi, Matthias, Berek, Klaus, Ladstätter, Felix, Wurth, Sebastian, Auer, Michael, Di Pauli, Franziska, Deisenhammer, Florian, Berger, Thomas

“… Peripapillary retinal nerve fibre layer (pRNFL) thickness is emerging as a marker of axonal degeneration in multiple sclerosis (MS). We aimed to prospectively …”
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Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue von Indelicato, Elisabetta, Zech, Michael, Amprosi, Matthias, Boesch, Sylvia

“… Background The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly …”
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Natural history of non-polyglutamine CACNA1A disease in Austria von Indelicato, Elisabetta, Nachbauer, Wolfgang, Amprosi, Matthias S., Maier, Sarah, Unterberger, Iris, Delazer, Margarete, Kaltseis, Katharina, Kiechl, Stefan, Broessner, Gregor, Baumann, Matthias, Boesch, Sylvia

“… Background and objectives Non-polyglutamine CACNA1A variants underlie an extremely variable phenotypic spectrum encompassing developmental delay, hemiplegic …”
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Change of olfactory function as a marker of inflammatory activity and disability progression in MS von Bsteh, Gabriel, Hegen, Harald, Ladstätter, Felix, Berek, Klaus, Amprosi, Matthias, Wurth, Sebastian, Auer, Michael, Di Pauli, Franziska, Deisenhammer, Florian, Reindl, Markus, Berger, Thomas, Lutterotti, Andreas

“… Impaired olfactory threshold has been reported in early inflammatory phases of MS, while impaired odor identification was associated with more widespread …”
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Instrumented gait analysis defines the walking signature of CACNA1A disorders von Indelicato, Elisabetta, Raccagni, Cecilia, Runer, Sarah, Hannink, Julius, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Wenning, Gregor, Boesch, Sylvia

“… Background Gait disturbances are a frequent symptom in CACNA1A disorders. Even though, data about their severity and progression are lacking and no CACNA1A …”
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Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia von Indelicato, Elisabetta, Faserl, Klaus, Amprosi, Matthias, Nachbauer, Wolfgang, Schneider, Rainer, Wanschitz, Julia, Sarg, Bettina, Boesch, Sylvia

“… Friedreich’s ataxia (FRDA) is a severe multisystemic disorder caused by a deficiency of the mitochondrial protein frataxin. While some aspects of FRDA …”
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The electrophysiological footprint of CACNA1A disorders von Indelicato, Elisabetta, Unterberger, Iris, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Zeiner, Fiona, Haberlandt, Edda, Kaml, Manuela, Gizewski, Elke, Boesch, Sylvia

“… Objectives CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar …”
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Onset features and time to diagnosis in Friedreich’s Ataxia von Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B., Boesch, Sylvia

“… Background In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic …”
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Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency von Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia

“… The spectrum of coenzyme Q 10 (CoQ 10 ) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia …”
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Neck and mind: exploring emotion processing in cervical dystonia von Carbone, Federico, Peball, Marina, Ellmerer, Philipp, Heim, Beatrice, Nachbauer, Wolfgang, Indelicato, Elisabetta, Amprosi, Matthias, Mahlknecht, Philipp, Hussl, Anna, Hotter, Anna, Granata, Roberta, Seppi, Klaus, Djamshidian, Atbin, Boesch, Sylvia

“… A wide range of non-motor symptoms such as pain, mood disorders, insomnia, and executive dysfunction may occur in focal dystonia. Little is known, however, …”
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Second language learning induces grey matter volume increase in people with multiple sclerosis von Ehling, Rainer, Amprosi, Matthias, Kremmel, Benjamin, Bsteh, Gabriel, Eberharter, Kathrin, Zehentner, Matthias, Steiger, Ruth, Tuovinen, Noora, Gizewski, Elke R., Benke, Thomas, Berger, Thomas, Spöttl, Carol, Brenneis, Christian, Scherfler, Christoph

“… Grey matter volume (GMV) decline is a frequent finding in multiple sclerosis (MS), the most common chronic neurological disease in young adults. Increases of …”
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Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study von Indelicato, Elisabetta, Fanciulli, Alessandra, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Ndayisaba, Jean-Pierre, Granata, Roberta, Wenning, Gregor, Boesch, Sylvia

“… Background Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: …”
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Mast Syndrome Outside the Amish Community: SPG21 in Europe von Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas

“… Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is …”
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Transient impairment of olfactory threshold in acute multiple sclerosis relapse von Bsteh, Gabriel, Hegen, Harald, Ladstätter, Felix, Berek, Klaus, Amprosi, Matthias, Wurth, Sebastian, Auer, Michael, Di Pauli, Franziska, Deisenhammer, Florian, Lutterotti, Andreas, Berger, Thomas

“… •We present a prospective study on olfactory threshold in acute MS relapse.•Threshold was assessed at baseline and after 4, 12 and 24 weeks.•Threshold is …”
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Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies von Angerbauer, Raphael, Unterberger, Iris, Nachbauer, Wolfgang, Amprosi, Matthias, Boesch, Sylvia, Cesari, Matteo, Indelicato, Elisabetta

“… Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent …”
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Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s ataxia von Indelicato, Elisabetta, Kirchmair, Alexander, Amprosi, Matthias, Steixner, Stephan, Nachbauer, Wolfgang, Eigentler, Andreas, Wahl, Nico, Apostolova, Galina, Krogsdam, Anne, Schneider, Rainer, Wanschitz, Julia, Trajanoski, Zlatko, Boesch, Sylvia

“… Abstract Objective: In Friedreich’s ataxia (FRDA), the most affected tissues are not accessible to sampling and available transcriptomic findings originate …”
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GAA‐FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications von Indelicato, Elisabetta, Fleszar, Zofia, Pellerin, David, Nachbauer, Wolfgang, Zuchner, Stephan, Traschütz, Andreas, Amprosi, Matthias, Schöls, Ludger, Haack, Tobias B., Brais, Bernard, Boesch, Sylvia, Synofzik, Matthis

“… Background An intronic (GAA)•(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting …”
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Genetic Determined Iron Starvation Signature in Friedreich's Ataxia von Grander, Manuel, Haschka, David, Indelicato, Elisabetta, Kremser, Christian, Amprosi, Matthias, Nachbauer, Wolfgang, Henninger, Benjamin, Stefani, Ambra, Högl, Birgit, Fischer, Christine, Seifert, Markus, Kiechl, Stefan, Weiss, Günter, Boesch, Sylvia

“… Background Early studies in cellular models suggested an iron accumulation in Friedreich's ataxia (FA), yet findings from patients are lacking. Objectives The …”
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study von Reetz, Kathrin, Dogan, Imis, Hilgers, Ralf-Dieter, Giunti, Paola, Parkinson, Michael H, Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Rummey, Christian, Schöls, Ludger, Hayer, Stefanie N, Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B, Labrum, Robyn, Thomas-Black, Gilbert, Manso, Katarina, Solanky, Nita, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Palau, Francesc, O'Callaghan, Mar, Biet, Marie, Monin, Marie Lorraine, Eigentler, Andreas, Indelicato, Elisabetta, Amprosi, Matthias, Radelfahr, Florentine, Bischoff, Almut T., Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Koutsis, Georgios, Breza, Marianthi, Bertini, Enrico, Vasco, Gessica

“… The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess …”
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Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study von Indelicato, Elisabetta, Reetz, Kathrin, Maier, Sarah, Nachbauer, Wolfgang, Amprosi, Matthias, Giunti, Paola, Mariotti, Caterina, Durr, Alexandra, Rivera Garrido, Francisco J.R., Klopstock, Thomas, Schöls, Ludger, Klockgether, Thomas, Bürk, Katrin, Pandolfo, Massimo, Didszun, Claire, Grobe‐Einsler, Marcus, Nanetti, Lorenzo, Nenning, Lukas, Kiechl, Stefan, Dichtl, Wolfgang, Ulmer, Hanno, Schulz, Jörg B., Boesch, Sylvia

“… ABSTRACT Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival …”
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