Search Results - "Bernert, G"

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial by Buyse, Gunnar M, Prof, Voit, Thomas, Prof, Schara, Ulrike, Prof, Straathof, Chiara S M, MD, D'Angelo, M Grazia, MD, Bernert, Günther, MD, Cuisset, Jean-Marie, MD, Finkel, Richard S, Prof, Goemans, Nathalie, MD, McDonald, Craig M, Prof, Rummey, Christian, PhD, Meier, Thomas, PhD

“…Summary Background Cardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy. Based on preclinical and phase 2 evidence, we…”
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Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline by Korinthenberg, R., Trollmann, R., Felderhoff-Müser, U., Bernert, G., Hackenberg, A., Hufnagel, M., Pohl, M., Hahn, G., Mentzel, H.J., Sommer, C., Lambeck, J., Mecher, F., Hessenauer, M., Winterholler, C., Kempf, U., Jacobs, B.C., Rostasy, K., Müller-Felber, W.

“…This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been…”
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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy by McDonald, Craig M, Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara SM, D'Angelo, M Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S, Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M, Group, for the DELOS Study

“…Highlights • Respiratory disease continues to be major cause of morbidity and mortality in DMD. • In phase 3 DELOS trial idebenone significantly reduced…”
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P84 – 2801: Two novel, disease-causing mutations in the ACSF3 gene in a patient with combined malonic and methylmalonic aciduria by Reichhardt, M, Bernert, G, Holub-Wondratsch, M

“…Background Combined malonic and methylmalonic aciduria (CMAMMA) is a rare inborn error of metabolism with elevated excretion of malonic acid (MA) and…”
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Long-Term Respiratory Support for Children and Adolescents in Austria: A National Survey by Weiss, S, Van Egmond-Fröhlich, A, Hofer, N, Pfleger, A, Rath, R, Schwarz, R, Kurz, H, Waibel, V, Kenzian, H, Kommer, E, Wadlegger, F, Stelzl, W, Keck, B, Grigorow, I, Kerbl, R, Sauseng, W, Frischer, T, Eber, E, Bernert, G

“…Population-based data on pediatric patients on long-term respiratory support (LTRS) in Austria are lacking. This study aimed to record the pediatric…”
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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy by Buyse, G, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, Rummey, C, Leinonen, M, Mayer, O, Spagnolo, P, Meier, T, McDonald, C

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy by McDonald, C, Meier, T, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, Rummey, C, Leinonen, M, Spagnolo, P, Buyse, G

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Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids by Buyse, G, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, McDonald, C, Rummey, C, Meier, T

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The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy by Meier, T, Rummey, C, Leinonen, M, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, McDonald, C, Buyse, G

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Long-term follow-up of pediatric patients treated with mitoxantrone for multiple sclerosis by Kornek, B, Bernert, G, Rostasy, K, Mlczoch, E, Feucht, M, Prayer, D, Vass, K, Seidl, R

“…The chemotherapeutic agent mitoxantrone is approved for the treatment of aggressive multiple sclerosis (MS) in adults. Its use, however, is limited by the risk…”
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P94 – 2991: GLUT1-DS presenting as movement disorder in a male adolescent: Possible effect of late treatment with MAD by Spenger, J, Weiss, S, Holub-Wondratsch, M, Gosk, M, Chalupecky, R, Repp, I, Bernert, G, Laccone, F

“…Glucose transporter-1 deficiency syndrome (GLUT1-DS, OMIM 606777) is a treatable hereditary disorder of brain energy metabolism caused by heterozygous mutation…”
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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy by Senderek, Jan, Bergmann, Carsten, Ramaekers, Vincent T., Nelis, Eva, Bernert, Günther, Makowski, Astrid, Züchner, Stephan, De Jonghe, Peter, Rudnik‐Schöneborn, Sabine, Zerres, Klaus, Schröder, J. Michael

“…Mutations in the gene for the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive…”
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Isolated cytochrome c oxidase deficiency as a cause of MELAS by Rossmanith, W, Freilinger, M, Roka, J, Raffelsberger, T, Moser-Thier, K, Prayer, D, Bernert, G, Bittner, R E

“…MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the more common mitochondrial encephalomyopathies. About 80%…”
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Glatiramer acetate treatment in patients with childhood and juvenile onset multiple sclerosis by Kornek, B, Bernert, G, Balassy, C, Geldner, J, Prayer, D, Feucht, M

“…Recent data indicate that in multiple sclerosis disease onset before the age of 16 is more common than previously assumed. However, current therapeutic options…”
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Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke by Zenz, W, Bodó, Z, Plotho, J, Streif, W, Male, C, Bernert, G, Rauter, L, Ebetsberger, G, Kaltenbrunner, K, Kurnik, P, Lischka, A, Paky, F, Ploier, R, Höfler, G, Mannhalter, C, Muntean, W

“…To investigate if the factor V Leiden mutation (F-V-LM) and/or the prothrombin gene G 20210 A variant (P-G20210A-V) are risk factors for acute stroke in…”
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Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome by Auer-Grumbach, M, Fischer, C, Papić, L, John, E, Plecko, B, Bittner, R E, Bernert, G, Pieber, T R, Miltenberger, G, Schwarz, R, Windpassinger, C, Grill, F, Timmerman, V, Speicher, M R, Janecke, A R

“…Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the…”
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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients by Skladal, D., Sudmeier, C., Konstantopoulou, V., Stöckler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.

“…The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of…”
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NMP027 Double Trouble: a clinical, molecular genetic mixed type of Facioscapulohumeral Dystrophy (FSHD) and Selenoprotein N rigid spine syndrome as a “new” neuromuscular disease by Weiss, S, Schmidt, W.M, Bittner, R.E, Bernert, G

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PHP08 Central respiratory drive disorder in a so far unidentified primary disease by Weiss, S, Frischer, T, Bernert, G

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Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype by Plecko, B, Stöckler-Ipsiroglu, S, Gruber, S, Mlynarik, V, Moser, E, Simbrunner, J, Ebner, F, Bernert, G, Harrer, G, Gal, A, Prayer, D

“…As only 10 - 30 % of patients with a Pelizaeus Merzbacher disease (PMD) phenotype carry mutations of the proteolipid protein (PLP) gene, we were interested if…”
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