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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Author / Creator:Trollmann, Regina ; Johannsen, Jessika ; Vill, Katharina ; Köhler, Cornelia ; Hahn, Andreas ; Illsinger, Sabine ; Pechmann, Astrid ; Hagen, Maja von der ; Müller-Felber, Wolfgang
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.353-9, Article 353
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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
Author / Creator:Becker, Lena-Luise ; Dafsari, Hormos Salimi ; Schallner, Jens ; Abdin, Dalia ; Seifert, Michael ; Petit, Florence ; Smol, Thomas ; Bok, Levinus ; Rodan, Lance ; Krapels, Ingrid ; Spranger, Stephanie ; Weschke, Bernhard ; Johnson, Katherine ; Straub, Volker ; Kaindl, Angela M. ; Di Donato, Nataliya ; von der Hagen, Maja ; Cirak, Sebahattin
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-11, Vol.65 (11), p.1003-1017
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Feedback-Based Learning of Timing in Attention-Deficit/Hyperactivity Disorder and Neurofibromatosis Type 1
Author / Creator:Prochnow, Astrid ; Bluschke, Annet ; Novotna, Barbara ; von der Hagen, Maja ; Beste, Christian
Publisher:New York, USA: Cambridge University Press
Journal title:Journal of the International Neuropsychological Society, 2022-01, Vol.28 (1), p.12-21
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Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children
Author / Creator:Nitz, Elisa ; Smitka, Martin ; Schallner, Jens ; Akgün, Katja ; Ziemssen, Tjalf ; Hagen, Maja ; Tüngler, Victoria
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.2013-2024
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Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy
Author / Creator:Lapp, Hanna Sophie ; Freigang, Maren ; Friese, Johannes ; Bernsen, Sarah ; Tüngler, Victoria ; von der Hagen, Maja ; Weydt, Patrick ; Günther, René
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.6634-6634, Article 6634
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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
Author / Creator:Hölzer, Hans Thomas ; Boschann, Felix ; Hennermann, Julia B. ; Hahn, Gabriele ; Hermann, Andreas ; von der Hagen, Maja ; Tüngler, Victoria
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-06, Vol.268 (6), p.2259-2262
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Diagnostic value of partial exome sequencing in developmental disorders
Author / Creator:Gieldon, Laura ; Mackenroth, Luisa ; Kahlert, Anne-Karin ; Lemke, Johannes R. ; Porrmann, Joseph ; Schallner, Jens ; von der Hagen, Maja ; Markus, Susanne ; Weidensee, Sabine ; Novotna, Barbara ; Soerensen, Charlotte ; Klink, Barbara ; Wagner, Johannes ; Tzschach, Andreas ; Jahn, Arne ; Kuhlee, Franziska ; Hackmann, Karl ; Schrock, Evelin ; Di Donato, Nataliya ; Rump, Andreas
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-08, Vol.13 (8), p.e0201041-e0201041
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Functional improvement in children and adolescents with primary headache after an interdisciplinary multimodal therapy program: the DreKiP study
Author / Creator:Sobe, Hanna ; Richter, Matthias ; Berner, Reinhard ; von der Hagen, Maja ; Hähner, Antje ; Röder, Ingo ; Koch, Thea ; Sabatowski, Rainer ; Klimova, Anna ; Gossrau, Gudrun
Publisher:Milan: Springer Milan
Journal title:Journal of headache and pain, 2022-12, Vol.23 (1), p.109-109, Article 109
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Influence of chronic diseases on the olfactory function in children
Author / Creator:Gellrich, Janine ; Dabow, Marie-Luise ; Vogelberg, Christian ; Reschke, Felix ; Näke, Andrea ; von der Hagen, Maja ; Schriever, Valentin A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2019-08, Vol.178 (8), p.1185-1193
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Response inhibition in Attention deficit disorder and neurofibromatosis type 1 – clinically similar, neurophysiologically different
Author / Creator:Bluschke, Annet ; von der Hagen, Maja ; Papenhagen, Katharina ; Roessner, Veit ; Beste, Christian
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-03, Vol.7 (1), p.43929-43929, Article 43929
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Correction: Diagnostic value of partial exome sequencing in developmental disorders
Author / Creator:Gieldon, Laura ; Mackenroth, Luisa ; Kahlert, Anne-Karin ; Lemke, Johannes R. ; Porrmann, Joseph ; Schallner, Jens ; von der Hagen, Maja ; Markus, Susanne ; Weidensee, Sabine ; Novotna, Barbara ; Soerensen, Charlotte ; Klink, Barbara ; Wagner, Johannes ; Tzschach, Andreas ; Jahn, Arne ; Kuhlee, Franziska ; Hackmann, Karl ; Schrock, Evelin ; Di Donato, Nataliya ; Rump, Andreas
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-09, Vol.15 (9), p.e0239959-e0239959
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Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial
Author / Creator:Kirschner, Janbernd, Dr ; Schessl, Joachim, MD ; Schara, Ulrike, MD ; Reitter, Bernd, Prof ; Stettner, Georg M, MD ; Hobbiebrunken, Elke, MD ; Wilichowski, Ekkehard, Prof ; Bernert, Günther, MD ; Weiss, Simone, MD ; Stehling, Florian, MD ; Wiegand, Gert, MD ; Müller-Felber, Wolfgang, Prof ; Thiele, Simone ; Grieben, Ulrike, MD ; von der Hagen, Maja, MD ; Lütschg, Jürg, Prof ; Schmoor, Claudia, PhD ; Ihorst, Gabriele, PhD ; Korinthenberg, Rudolf, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2010-11, Vol.9 (11), p.1053-1059
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Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient
Author / Creator:Kobus, Karolina ; Hartl, Daniela ; Ott, Claus Eric ; Osswald, Monika ; Huebner, Angela ; von der Hagen, Maja ; Emmerich, Denise ; Kühnisch, Jirko ; Morreau, Hans ; Hes, Frederik J. ; Mautner, Victor F. ; Harder, Anja ; Tinschert, Sigrid ; Mundlos, Stefan ; Kolanczyk, Mateusz
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0119030
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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Author / Creator:Petersen, Jens A. ; Kuntzer, Thierry ; Fischer, Dirk ; von der Hagen, Maja ; Huebner, Angela ; Kana, Veronika ; Lobrinus, Johannes A. ; Kress, Wolfram ; Rushing, Elisabeth J. ; Sinnreich, Michael ; Jung, Hans H.
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2015-10, Vol.15 (1), p.182-182, Article 182
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Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy
Author / Creator:von der Hagen, Maja ; Kaindl, Angela M. ; Koehler, Kathrin ; Mitzscherling, Petra ; Häusler, Hans-Jürgen ; Stoltenburg-Didinger, Gisela ; Huebner, Angela
Publisher:Germany: Springer Nature B.V
Journal title:European journal of pediatrics, 2006-01, Vol.165 (1), p.62-63
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Autologous bone flap cranioplasty following decompressive craniectomy is combined with a high complication rate in pediatric traumatic brain injury patients
Author / Creator:Martin, K. Daniel ; Franz, Benjamin ; Kirsch, Matthias ; Polanski, Witold ; von der Hagen, Maja ; Schackert, Gabriele ; Sobottka, Stephan B.
Publisher:Vienna: Springer Vienna
Journal title:Acta neurochirurgica, 2014-04, Vol.156 (4), p.813-824
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Author / Creator:Töpf, Ana ; Johnson, Katherine ; Bates, Adam ; Phillips, Lauren ; Chao, Katherine R. ; England, Eleina M. ; Laricchia, Kristen M. ; Mullen, Thomas ; Valkanas, Elise ; Xu, Liwen ; Bertoli, Marta ; Blain, Alison ; Casasús, Ana B. ; Duff, Jennifer ; Mroczek, Magdalena ; Specht, Sabine ; Lek, Monkol ; Ensini, Monica ; MacArthur, Daniel G. ; Straub, Volker
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488
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Response to: ‘JAK inhibition in STING-associated interferonopathy’ by Crow et al
Author / Creator:Tüngler, Victoria ; König, Nadja ; Günther, Claudia ; Engel, Kerstin ; Fiehn, Christoph ; Smitka, Martin ; von der Hagen, Maja ; Berner, Reinhard ; Lee-Kirsch, Min Ae
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2016-12, Vol.75 (12), p.e76-e76
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Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture
Author / Creator:Beste, Christian ; Ocklenburg, Sebastian ; von der Hagen, Maja ; Di Donato, Nataliya
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Brain Structure and Function, 2016-06, Vol.221 (5), p.2487-2491
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Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration
Author / Creator:Mückschel, Moritz ; Smitka, Martin ; Hermann, Andreas ; von der Hagen, Maja ; Beste, Christian
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Brain Structure and Function, 2016-05, Vol.221 (4), p.2251-2257
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Showing 1 to 20 of 26 results

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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

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Feedback-Based Learning of Timing in Attention-Deficit/Hyperactivity Disorder and Neurofibromatosis Type 1

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Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children

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Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy

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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis

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Diagnostic value of partial exome sequencing in developmental disorders

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Functional improvement in children and adolescents with primary headache after an interdisciplinary multimodal therapy program: the DreKiP study

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Influence of chronic diseases on the olfactory function in children

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Response inhibition in Attention deficit disorder and neurofibromatosis type 1 – clinically similar, neurophysiologically different

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Correction: Diagnostic value of partial exome sequencing in developmental disorders

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Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

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Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

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Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

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Autologous bone flap cranioplasty following decompressive craniectomy is combined with a high complication rate in pediatric traumatic brain injury patients

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

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Response to: ‘JAK inhibition in STING-associated interferonopathy’ by Crow et al

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Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture

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Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration

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