Wilichowski, Ekkehard

[["dc.bibliographiccitation.issue","9-10"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.volume","24"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Podskarbi, T."],["dc.contributor.author","Mueller-Reible, Clemens"],["dc.contributor.author","Klinge, Lars"],["dc.contributor.author","Goebel, Hans H."],["dc.contributor.author","Wilichowski, E."],["dc.date.accessioned","2018-11-07T09:34:36Z"],["dc.date.available","2018-11-07T09:34:36Z"],["dc.date.issued","2014"],["dc.format.extent","886"],["dc.identifier.doi","10.1016/j.nmd.2014.06.308"],["dc.identifier.isi","000342870200305"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32204"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.publisher.place","Oxford"],["dc.relation.conference","19th International Congress of the World-Muscle-Society"],["dc.relation.eventlocation","Berlin, GERMANY"],["dc.relation.issn","1873-2364"],["dc.relation.issn","0960-8966"],["dc.title","Double trouble: A child with spinal muscular atrophy type III and Pompe disease"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","134"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.lastpage","142"],["dc.bibliographiccitation.volume","24"],["dc.contributor.author","Kirschner, J."],["dc.contributor.author","Schorling, D."],["dc.contributor.author","Hauschke, D."],["dc.contributor.author","Rensing-Zimmermann, C."],["dc.contributor.author","Wein, U."],["dc.contributor.author","Grieben, Ulrike"],["dc.contributor.author","Schottmann, Gudrun"],["dc.contributor.author","Schara, Ulrike"],["dc.contributor.author","Konrad, Kerstin"],["dc.contributor.author","Mueller-Felber, Wolfgang"],["dc.contributor.author","Thiele, Simone"],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Korinthenberg, Rudolf"],["dc.date.accessioned","2018-11-07T09:44:03Z"],["dc.date.available","2018-11-07T09:44:03Z"],["dc.date.issued","2014"],["dc.description.abstract","In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with spinal muscular atrophy reported benefit after compassionate use of growth hormone. Therefore we evaluated the efficacy and safety of growth hormone treatment for spinal muscular atrophy in a multicenter, randomised, double-blind, placebo-controlled, crossover pilot trial. Patients (n = 19) with type II/III spinal muscular atrophy were randomised to receive either somatropin (0.03 mg/kg/day) or placebo subcutaneously for 3 months, followed by a 2-month wash-out phase before 3 months of treatment with the contrary remedy. Changes in upper limb muscle strength (megascore for elbow flexion and hand-grip in Newton) were assessed by hand-held myometry as the primary measure of outcome. Secondary outcome measures included lower limb muscle strength, motor function using the Hammersmith Functional Motor Scale and other functional tests for motor function and pulmonary function. Somatropin treatment did not significantly affect upper limb muscle strength (point estimate mean: 0.08 N, 95% confidence interval (CI:-3.79;3.95, p = 0.965), lower limb muscle strength (point estimate mean: 2.23 N, CI:-2.19;6.63, p = 0.302) or muscle and pulmonary function. Side effects occurring during somatropin treatment corresponded with well-known side effects of growth hormone substitution in patients with growth hormone deficiency. In this pilot study, growth hormone treatment did not improve muscle strength or function in patients with spinal muscular atrophy type II/III. (C) 2013 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.nmd.2013.10.011"],["dc.identifier.isi","000333072000004"],["dc.identifier.pmid","24300782"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34312"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.relation.issn","1873-2364"],["dc.relation.issn","0960-8966"],["dc.title","Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","431"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Acta Neuropathologica"],["dc.bibliographiccitation.lastpage","453"],["dc.bibliographiccitation.volume","141"],["dc.contributor.author","Rees, Martin"],["dc.contributor.author","Nikoopour, Roksana"],["dc.contributor.author","Fukuzawa, Atsushi"],["dc.contributor.author","Kho, Ay Lin"],["dc.contributor.author","Fernandez-Garcia, Miguel A."],["dc.contributor.author","Wraige, Elizabeth"],["dc.contributor.author","Bodi, Istvan"],["dc.contributor.author","Deshpande, Charu"],["dc.contributor.author","Özdemir, Özkan"],["dc.contributor.author","Daimagüler, Hülya-Sevcan"],["dc.contributor.author","Pfuhl, Mark"],["dc.contributor.author","Holt, Mark"],["dc.contributor.author","Brandmeier, Birgit"],["dc.contributor.author","Grover, Sarah"],["dc.contributor.author","Fluss, Joël"],["dc.contributor.author","Longman, Cheryl"],["dc.contributor.author","Farrugia, Maria Elena"],["dc.contributor.author","Matthews, Emma"],["dc.contributor.author","Hanna, Michael"],["dc.contributor.author","Muntoni, Francesco"],["dc.contributor.author","Sarkozy, Anna"],["dc.contributor.author","Phadke, Rahul"],["dc.contributor.author","Quinlivan, Ros"],["dc.contributor.author","Oates, Emily C."],["dc.contributor.author","Schröder, Rolf"],["dc.contributor.author","Thiel, Christian"],["dc.contributor.author","Reimann, Jens"],["dc.contributor.author","Voermans, Nicol"],["dc.contributor.author","Erasmus, Corrie"],["dc.contributor.author","Kamsteeg, Erik-Jan"],["dc.contributor.author","Konersman, Chaminda"],["dc.contributor.author","Grosmann, Carla"],["dc.contributor.author","McKee, Shane"],["dc.contributor.author","Tirupathi, Sandya"],["dc.contributor.author","Moore, Steven A."],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Dekomien, Gabriele"],["dc.contributor.author","Richard, Isabelle"],["dc.contributor.author","Van den Bergh, Peter"],["dc.contributor.author","Domínguez-González, Cristina"],["dc.contributor.author","Cirak, Sebahattin"],["dc.contributor.author","Ferreiro, Ana"],["dc.contributor.author","Jungbluth, Heinz"],["dc.contributor.author","Gautel, Mathias"],["dc.date.accessioned","2021-04-14T08:30:40Z"],["dc.date.available","2021-04-14T08:30:40Z"],["dc.date.issued","2021"],["dc.identifier.doi","10.1007/s00401-020-02257-0"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/83331"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1432-0533"],["dc.relation.issn","0001-6322"],["dc.title","Making sense of missense variants in TTN-related congenital myopathies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1053"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","The Lancet Neurology"],["dc.bibliographiccitation.lastpage","1059"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Kirschner, Janbernd"],["dc.contributor.author","Schessl, Joachim"],["dc.contributor.author","Schara, Ulrike"],["dc.contributor.author","Reitter, Bernd"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Bernert, Guenther"],["dc.contributor.author","Weiss, Simone"],["dc.contributor.author","Stehling, Florian"],["dc.contributor.author","Wiegand, Gert"],["dc.contributor.author","Mueller-Felber, Wolfgang"],["dc.contributor.author","Thiele, Simone"],["dc.contributor.author","Grieben, Ulrike"],["dc.contributor.author","von der Hagen, Maja"],["dc.contributor.author","Luetschg, Juerg"],["dc.contributor.author","Schmoor, Claudia"],["dc.contributor.author","Ihorst, Gabriele"],["dc.contributor.author","Korinthenberg, Rudolf"],["dc.date.accessioned","2018-11-07T08:37:41Z"],["dc.date.available","2018-11-07T08:37:41Z"],["dc.date.issued","2010"],["dc.description.abstract","Background Duchenne muscular dystrophy is a rare X-linked progressive disease characterised by loss of ambulation at about age 10 years, with death in early adulthood due to respiratory and cardiac insufficiency. Steroids are effective at slowing the progression of muscle weakness; however, their use is limited by side-effects, prompting the search for alternatives. We assessed the effect of ciclosporin A as monotherapy and in combination with intermittent prednisone for the treatment of ambulant patients with this disorder. Methods Our study was a parallel-group, placebo-controlled, double-blind, multicentre trial at trial sites of the German muscular dystrophy network, MD-NET, over 36 months. Ambulant patients with Duchenne muscular dystrophy who were aged 5 years or older were randomly assigned to receive either ciclosporin A (3.5-4.0 mg/kg per day) or matching placebo. Allocation was done centrally with computer-generated random numbers. Patients and investigators were masked to the allocated treatment. After 3 months of treatment, both groups were also given intermittent prednisone for a further 12 months (0.75 mg/kg, alternating 10 days on with 10 days off). All patients who received at least one dose of study drug or placebo were included in the primary analysis. The primary outcome measure was manual muscle strength measured on the Medical Research Council (MRC) scale. This trial is registered with the German clinical trial register DRKS, number DRKS00000445. Findings 77 patients were randomly assigned to the ciclosporin A group and 76 to the placebo group; 73 patients on ciclosporin A and 73 on placebo received at least one dose and were available for efficacy analyses. 3 months of treatment with ciclosporin A alone did not show any significant improvement in primary outcome measures (mean change in the proportion of a possible total MRC score [%MRC] was -2.6 [SD 6.0] for patients on ciclosporin A and -0.8 [4.9] for patients on placebo; adjusted group difference estimate -0.88, 97.5% CI -2.6 to 0.9; p=0.26). The combination of ciclosporin A with intermittent steroids was not better than intermittent steroids alone over 12 months (mean change in %MRC was 0.7 [7.1] for patients on ciclosporin A and -0.3 [7.9] for patients on placebo; adjusted group difference estimate -0.85, -3.6 to 1.9; p=0.48). Numbers of adverse events (75 in patients on ciclosporin A and 74 on placebo) and serious adverse events (four with ciclosporin A and four with placebo) did not differ significantly between groups. Interpretation Ciclosporin A alone or in combination with intermittent prednisone does not improve muscle strength or functional abilities in ambulant boys with Duchenne muscular dystrophy, but is safe and well tolerated."],["dc.identifier.doi","10.1016/S1474-4422(10)70196-4"],["dc.identifier.isi","000284246800013"],["dc.identifier.pmid","20801085"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/18595"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","1474-4422"],["dc.title","Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","PII S0887-8994(02)00469-1"],["dc.bibliographiccitation.firstpage","53"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Pediatric Neurology"],["dc.bibliographiccitation.lastpage","58"],["dc.bibliographiccitation.volume","28"],["dc.contributor.author","Komura, K."],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:42:50Z"],["dc.date.available","2018-11-07T10:42:50Z"],["dc.date.issued","2003"],["dc.description.abstract","The mitochondrial encephalomyopathies are chronic progressive disorders affecting predominantly the neuromuscular system. Symptoms are induced by insufficient energy supply resulting from a deficiency of oxidative phosphorylation. We studied one male and four female patients with genetically proven mitochondrial encephalomyopathy. Their ages ranged from 7 to 19 years (two with Kearns-Sayre syndrome, one patient with neuronal muscle weakness, ataxia, and retinitis pigmentosa syndrome, and two patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), using a retrospective study method. We studied the effect of creatine supplementation (0.08 g-0.35 g/kg body weight/day; 9 months to 4 years, 10 months) and measured skeletal muscle power analysis (bicycle ergometer). After creatine supplementation all patients demonstrated an increase in their maximum performance (W) (+4% +30%; mean: +12.1%). These results indicate an improved aerobic oxidative function of mitochondria after creatine administration in patients with mitochondrial encephalomyopathies. Continuous physical exercise was improved to a greater extent than instantaneous activity. (C) 2003 by Elsevier Science Inc. All rights reserved."],["dc.identifier.doi","10.1016/S0887-8994(02)00469-1"],["dc.identifier.isi","000181959800009"],["dc.identifier.pmid","12657421"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46894"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","0887-8994"],["dc.title","Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","S108"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.lastpage","S109"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Goebel, Hans H."],["dc.contributor.author","Ferreiro, Ana"],["dc.contributor.author","Boennemann, Carsten"],["dc.date.accessioned","2018-11-07T09:38:58Z"],["dc.date.available","2018-11-07T09:38:58Z"],["dc.date.issued","2006"],["dc.identifier.isi","000239229400227"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/33180"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.publisher.place","Oxford"],["dc.relation.conference","11th International Congress on Neuromuscular Diseases"],["dc.relation.eventlocation","Istanbul, TURKEY"],["dc.relation.issn","0960-8966"],["dc.title","Clinical and morphological presentation of 'Rigid spine muscular dystrophy' caused by Selenoprotein N gene mutation"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","9-10"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Gempel, K."],["dc.contributor.author","Sperl, Wolfgang"],["dc.contributor.author","Goebel, H."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Gaertner, J."],["dc.date.accessioned","2018-11-07T10:58:21Z"],["dc.date.available","2018-11-07T10:58:21Z"],["dc.date.issued","2007"],["dc.format.extent","827"],["dc.identifier.doi","10.1016/j.nmd.2007.06.223"],["dc.identifier.isi","000250258000224"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50459"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.publisher.place","Oxford"],["dc.relation.conference","12th International Congress of the World-Muscle-Society"],["dc.relation.eventlocation","Giardini Naxos, ITALY"],["dc.relation.issn","0960-8966"],["dc.title","Clinical, morphological, biochemical and genetic variability in pure mitochondrial myopathies of childhood onset"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]