Search Results - "Vlaho, Stefan"

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES by van Baalen, Andreas, Häusler, Martin, Plecko-Startinig, Barbara, Strautmanis, Jurgis, Vlaho, Stefan, Gebhardt, Boris, Rohr, Axel, Abicht, Angela, Kluger, Gerhard, Stephani, Ulrich, Probst, Christian, Vincent, Angela, Bien, Christian G

“…Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious epileptic encephalopathy in previously healthy children and has three phases:…”
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Encephalopathy and sinustachycardia in childhood--a possible differential diagnosis by Hecht, Tobias, Brand, Jörg, Vlaho, Stefan

“…We report on a 7-year-old girl with generalized seizures, somnolence, fever, and respiratory distress. The increase of sinus tachycardia with good hydration,…”
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A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions by Brunet, Theresa, Westphal, Dominik S., Weber, Sandrina, Juenger, Hendrik, Vlaho, Stefan, Hoefele, Julia, Meitinger, Thomas, Rieger-Fackeldey, Esther, Wagner, Matias

“…•We present the fifth case of MYO18B-associated disease with a previously unreported homozygous nonsense variant in MYO18B.•Prenatal features are described for…”
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Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins by Bien, Christian G., Tiemeier, Henning, Sassen, Robert, Kuczaty, Stefan, Urbach, Horst, von Lehe, Marec, Becker, Albert J., Bast, Thomas, Herkenrath, Peter, Karenfort, Michael, Kruse, Bernd, Kurlemann, Gerhard, Rona, Sabine, Schubert‐Bast, Susanne, Vieker, Silvia, Vlaho, Stefan, Wilken, Bernd, Elger, Christian E.

“…Summary Purpose:  Rasmussen encephalitis (RE) leads to progressive tissue and function loss of one brain hemisphere and often intractable epilepsy. This is the…”
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Neurodegeneration in ataxia telangiectasia: what is new? What is evident? by Hoche, Franziska, Seidel, Kay, Theis, Marius, Vlaho, Stefan, Schubert, Ralf, Zielen, Stefan, Kieslich, Matthias

“…This article summarizes evident and recent findings on the characteristics of the neurological phenotype in ataxia telangiectasia (AT), reviews…”
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T-cell homeostasis in pediatric multiple sclerosis: Old cells in young patients by Balint, Bettina, Haas, Jürgen, Schwarz, Alexander, Jarius, Sven, Fürwentsches, Alexandra, Engelhardt, Kathrin, Bussmann, Cornelia, Ebinger, Friedrich, Fritzsching, Benedikt, Paul, Friedemann, Seidel, Ulrich, Vlaho, Stefan, Huppke, Peter, Gärtner, Jutta, Wildemann, Brigitte

“…OBJECTIVE:To assess pediatric patients with multiple sclerosis (MS) for early signs of homeostatic and functional abnormalities in conventional (Tcon) and…”
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Extracerebellar MRI—Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age by Kieslich, Matthias, Hoche, Franziska, Reichenbach, Janine, Weidauer, Stefan, Porto, Luciana, Vlaho, Stefan, Schubert, Ralf, Zielen, Stefan

“…Ataxia telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive ataxia, neurodegeneration, immunodeficiency, and cancer…”
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Spectroscopy of untreated pilocytic astrocytomas: do children and adults share some metabolic features in addition to their morphologic similarities by Porto, Luciana, Kieslich, Matthias, Franz, Kea, Lehrbecher, Thomas, Vlaho, Stefan, Pilatus, Ulrich, Hattingen, Elke

“…Objective Pilocytic astrocytomas may show heterogeneous histopathological and imaging features which are commonly attributed to malignant gliomas. Using…”
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ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment by Abicht, Angela, Horvath, Rita, Stenzel, Werner, Goebel, Hans H., Schulze, Andreas, Harter, Patrick N., Kieslich, Matthias, Mittelbronn, Michel, Kleinle, Stephanie, Drott, Ulrich, Tews, Dominique S., Blank, Anna-Eva, Wittig, Ilka, Müller, Klaus, Vlaho, Stefan, Braczynski, Anne K., Plate, Karl H.

“…TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in the TMEM70 gene impair oxidative phosphorylation. Herein, we report on…”
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Human herpes virus‐6 DNA in cerebrospinal fluid of children undergoing therapy for acute leukaemia by Wittekindt, Boris, Berger, Annemarie, Porto, Luciana, Vlaho, Stefan, Grüttner, Hans Peter, Becker, Martina, Lehrnbecher, Thomas

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Rare brain biopsy findings in a first ADEM-like event of pediatric MS: histopathologic, neuroradiologic and clinical features by Hoche, Franziska, Pfeifenbring, Sabine, Vlaho, Stefan, Qirshi, Mayyada, Theis, Marius, Schneider, Wilfried, Porto, Luciana, Müller, Klaus, Kieslich, Matthias

“…Pediatric MS tends to present more often with an acute onset and a polysymptomatic form of the disease, possibly with encephalopathy and large tumefactive…”
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Dystonia With Secondary Contractures: A Psychogenic Movement Disorder Mimicking Its Neurological Counterpart by Ziegler, Julia Stephanie, von Stauffenberg, Maya, Vlaho, Stefan, Böhles, Hansjosef, Kieslich, Matthias

“…We report the case of an 11-year-old girl presenting with a 1.5-year history of swan neck-like deformed joint contractures of both hands. A possible diagnosis…”
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N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria by Gebhardt, Boris, Vlaho, Stefan, Fischer, Doris, Sewell, Adrian, Böhles, Hansjosef

“…In patients with methylmalonic aciduria (MMA), the accumulating metabolite propiony-CoA results in an inhibition of the urea circle via the decreased synthesis…”
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Cyst of the third ventricle as an unusual cause of acquired hydrocephalus by Vlaho, Stefan, Gebhardt, Boris, Gerlach, Rüdiger, Weidauer, Stephan, Kieslich, Matthias

“…Cysts of the third ventricle are rare congenital suprasellar malformations of arachnoidal, endodermal, or neuroepithelial origin. Depending on their size and…”
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Midline Developmental Anomalies in Down Syndrome by Kieslich, Matthias, Fuchs, Sigrun, Vlaho, Stefan, Maisch, Ulrike, Boehles, H.

“…Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of…”
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