Benutzerspezifische Werkzeuge

Publikationen

2004 | 2005 | 2006 | 2007 | 2008 | 2009 | 2010 | 2011 | 2012 | 2013 | 2014 | 2015| 2016

2004

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta S, Friebel D, Gebhardt B, Fowler B, Hoffmann, GF, Baumgartner ER, Valle D. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet 2004;75, 790 – 800

Bittigau P, Sifringer M, Felderhoff-Mueser U, Ikonomidou C. Apoptotic neurodegeneration in the context of traumatic injury to the developing brain. Exp Toxicol Pathol 2004;56:83 - 89

Brunk I, Stöver B, Ikonomidou C, Kunze J, • Brickmann J, Neumann L. Ehlers Danlos syndrome type VI with cystic malformations of the meninges in a 7 year old girl. Eur J Ped 2004;163:214 - 217

Challapallo KK, Zabel C, Schuchhardt J, Kaindl AM, Klose, J, Herzel H. High reproducibility of large-gel two-dimensional electrophoresis. Electrophoresis 2004;25:3040 - 3047

Dzietko M, Felderhoff-Mueser U, Sifringer M, Krutz B, Bittigau P, Thor F, Heumann R, Bührer C, Ikonomidou, C. Hansen HH. Erythropoietin protects the developing brain against N-methyl-D-aspartate receptor antagonist neurotoxicity. Neurobiol Dis 2004;15:177 - 187

Felderhoff-Mueser U, Bittigau P, Sifringer M, Jarosz B, Korobowicz E, Mahler L, Piening T, Moysich A Grune T, Thor F, Heumann R, Bührer C, Ikonomidou C. Oxygen causes cell death in the developing brain. Neurobiol Dis 2004;17:273 – 282

Glier C, Dzietko M, Bittigau P, Jarosz B, Korobowicz E, Ikonomidou C. Therapeutic doses of topiramate are not toxic to the developing brain. Exp Neurol 2004;185:403 - 409

Hansen HH, Briem T, Dzietko M, Sifringer M, Rzeski W, Zdzisinska B, Thor F, Heumann R, Stepulak A, Bittigau P, Ikonomidou C. Mechanisms leading to disseminated apoptosis following NMDA receptor blockade in the developing rat brain. Neurobiol Dis 2004;16:440 – 453

Rzeski W, Pruskil S, Macke A, Felderhoff-Mueser U, Reiher AK, Hoerster F, Jansma C, Jarosz B, Stefovska V, Bittigau P, Ikonomidou C. Anticancer agents are potent neurotoxins in vitro and in vivo. Ann Neurol 2004;56:351-60

Pörksen G, Pfeiffer, Hahn G, Poppe M, Friebel D, Kreuz F, Gahr M Neonatal seizures in two siblings with Incontinentia pigmenti - EEG and MRI findings. Neuropediatrics 2004;35:139-42

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Richard P, Sewry C, Bonne G, Muntoni F, Bushby K Extreme variability of phenotype in patients with an identical nonsense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classical Emery-Dreifuss variant. Arch Neurol 2004;61:690-4

Rohayem J, Berger S, Juretzek T, Herchenroder O, Mogel M, Poppe M, Henker J, Rethwilm A. A simple and rapid single-step multiplex RT-PCR to detect Norvovirus, Astrovirus and Adenovirus in clinical stool samples. J Virol Methods 2004;118:49-59

Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Cardiac and respiratory failure caused by limb-girdle muscular dystrophy type 2I. Ann Neurol 2004;56:738-741

2005

Kaindl AM, Steinberger D, Kunath B, Heubner G, Neubert K, Müller U, Blau N, von der Hagen M. Case Report: Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1. J Ped Neurol 2005;2005;3:83-87

Birchall D, von der Hagen M, Bates D, Bushby KMD, Chinnery P. Subclinical semitendinosus and obturator externus involvement defines hereditary inclusion body myopathy with early respiratory failure. Neuromuscular disord 2005;15:595-600

von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Oberndorfer F, Straub V, Bittner RE and Bushby KMD. Gene expression profiling of proximal and distal muscle groups in wildtype and dysferlin-deficient mice. Neuromuscular disord 2005;15:863-77

Felderhoff-Mueser U, Sifringer M, Polley O, Dzietko M, Leineweber B, Mahler L, Baier M, Bittigau P, Obladen M, Ikonomidou C, Bührer C. Caspase-1-processed interleukins in hyperoxia-induced cell death in the developing brain. Ann Neurol 2005;57:50-9

Kuner R, Groom AJ, Bresink I, Kornau HC, Stefovska V, Müller G, Hartmann B, Tschauner K, Waibel S, Ludolph AC, Ikonomidou C, Seeburg PH, Turski L. Late-onset motoneuron disease caused by a functionally modified AMPA receptor subunit. Proc Natl Acad Sci U S A 2005;102:5826-31

Manthey D, Asimiadou S, Stefovska V, Kaindl AM, Fassbender J, Ikonomidou C, Bittigau P. Sulthiame but not levetiracetam exerts neurotoxic effect in the developing rat brain. Exp Neurol 2005;193:497-503
Asimiadou S, Bittigau P, Felderhoff-Mueser U, Manthey D, Sifringer M, Pesditschek S, Dzietko M, Kaindl AM, Pytel M, Studniarczyk D, Mozrzymas JW, Ikonomidou C. Protection with estradiol in developmental models of apoptotic neurodegeneration. Ann Neurol. 2005;58:266-76

Weber A, Dzietko M, Berns M, Felderhoff-Mueser U, Heinemann U, Maier RF, Obladen M, Ikonomidou C, Bührer C. Neuronal damage after moderate hypoxia and erythropoietin. Neurobiol Dis 2005;20:594-600

Stepulak A, Sifringer M, Rzeski W, Endesfelder S, Gratopp A, Pohl EE, Bittigau P, Felderhoff-Mueser U, Kaindl AM, Bührer C, Hansen HH, Stryjecka-Zimmer M, Turski L, Ikonomidou C. NMDA antagonist inhibits the extracellular signal-regulated kinase pathway and suppresses cancer growth. Proc Natl Acad Sci U S A. 2005;102:15605-10

Kuner R, Groom AJ, Müller G, Kornau HC, Stefovska V, Bresink I, Hartmann B, Tschauner K, Waibel S, Ludolph AC, Ikonomidou C, Seeburg PH, Turski L. Mechanisms of disease: motoneuron disease aggravated by transgenic expression of a functionally modified AMPA receptor subunit. Ann N Y Acad Sci. 2005;1053:269-86

2006

von der Hagen M, Kaindl AM, Köhler K, Mitzscherling P, Häusler HJ, Stoltenburg-Didinger G, Huebner A. Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associaed myositis in infancy. Eur J Pediatr 2006;165:62-63

von der Hagen M, Schallner J, Kaindl AM, Abicht A, Müller J, Korinthenberg R, Kress, Walter MC, von Moers A, Mitzscherling P, Korinthenberg R, Schara U, Müller J, Grieben U, Koehler K, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. Facing the genetic heterogeneity in neuromuscular disorders: linkage-analyses as economic diagnostic approach towards the molecular diagnosis. Neuromuscular Disord 2006;16:4-13

Kaindl AM, Sifringer M, Zabel C, Nebrich G, Wacker MA, Felderhoff-Mueser U, Endesfelder S, von der Hagen M, Stefovska V, Klose J, and Ikonomidou H.. Acute and long-term proteome changes induced by oxidative stress in the developing brain. Cell Death Differ 2006;13:1097-109

Sponholz S, von der Hagen M, Seifert J, Hahn G, Richard P, Stoltenburg-Didinger G, Ferreiro A and Kaindl AM. SEPN1-Rigid spine muscular dystrophy, a differential diagnosis for early onset limited mobility of the spine. J Child Neurol 2006;21:316-320

von der Hagen M, Schallner J, Kaindl AM, Köhler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner Ch, Lochmüller H, Hübner A. Facing the heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach. Neuromuscular disord 2006;16:4-13

Kaindl AM, Asimiadou S, Manthey D, von der Hagen M, Turski L and Ikonomidou C. Antiepileptic drugs and the developing brain. Cell Mol Life Sci 2006;63:399-413

von der Hagen M, Schallner J, Kaindl AM, Abicht A, Müller JM, Mitzscherling P, Lochmüller H, Hübner C, Hübner A. Mikrosatellitenanalyse als ökonomische Strategie zur molekularen Diagnostik neuromuskulärer Erkrankungen. Neuropaediatrie in Klinik und Praxis 2006;01:33-39

Friebel D, von der Hagen M, Baumgartner M, Hahn G, Fowler B, Heubner G, Baumgartner R and Hoffmann GF Novel heterozygous missense mutation in the alpha subunit of MCCa in a child with biosensitive 3-methylcrotonyl-CoA-carboxylase-deficiency. Neuropediatrics 2006;37:72-78

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Hübner A, Webster R, Beeson D, Lochmüller H, Abicht A. CHRND mutation causes a congenital myasthenic syndrome by impairing coclustering of the acetylcholine receptor with rapsyn. Brain 2006;129:2784-2793.

Kaindl AM, Sifringer M, Zabel C, Nebrich G, Wacker MA, Felderhoff-Mueser U, Endesfelder S, von der Hagen M, Stefovska V, Klose J, Ikonomidou C. Acute and long-term proteome changes induced by oxidative stress in the developing brain. Cell Death Differ 2006;13:1097-109

2007

Reuner U, Sponholz S, von der Hagen M, Hahn G, Reichmann H, Dinger J: Ein Händedruck der Mutter – richtungsweisend bei der Diagnostik des floppy infant: Diagnosestellung der myotonen Dystrophie und ihrer kongenitalen Form. Akt Neurol:2007;262-266

Sifringer M, Stefovska V, Zentner I, Hansen B, Stepulak A, Knaute C, Marzahn J, Ikonomidou C. The role of matrix metalloproteinases in infant traumatic brain injury. Neurobiol Dis 2007;25:526-35
Pytel M, Wójtowicz T, Mercik K, Sarto-Jackson I, Sieghart W, Ikonomidou C, Mozrzymas JW. 17 beta-estradiol modulates GABAergic synaptic transmission and tonic currents during development in vitro. Neuropharmacology 2007;52:1342-53

Sifringer M, Stefovska V, Endesfelder S, Stahel PF, Genz K, Dzietko M, Ikonomidou C, Felderhoff-Mueser U. Activation of caspase-1 dependent interleukins in developmental brain trauma. Neurobiol Dis. 2007 Mar;25(3):614-22

Ikonomidou C, Scheer I, Wilhelm T, Juengling FD, Titze K, Stöver B, Lehmkuhl U, Koch S, Kassubek J. Brain morphology alterations in the basal ganglia and the hypothalamus following prenatal exposure to antiepileptic drugs. Eur J Paediatr Neurol 2007;11:297-301

Kaindl AM, Ikonomidou C. Glutamate antagonists are neurotoxins for the developing brain. Neurotox Res. 2007;11:203-18

Kaindl AM, Zabel C, Stefovska V, Lehnert R, Sifringer M, Klose J, Ikonomidou C. Subacute proteome changes following traumatic injury of the developing brain: Implications for a dysregulation of neuronal migration and neurite arborization. Proteomics Clin Appl. 2007;1:640-9

Stepulak A, Sifringer M, Rzeski W, Brocke K, Gratopp A, Pohl EE, Turski L, Ikonomidou C. AMPA antagonists inhibit the extracellular signal regulated kinase pathway and suppress lung cancer growth. Cancer Biol Ther. 2007;6:1908-15

2008

Buschhüter D, Smitka M, Puschmann S, Gerber JC, Witt M, Abolmaali ND and Hummel T. Correlation between olfactory bulb volume and olfactory function. Neuroimage 2008,42:498-502

von der Hagen M, Kress W, Hahn G, Brocke KS, Mitzscherling P, Huebner A, Müller-Reible C, Stoltenburg-Didinger G, Kaindl AM. Novel RYR1 missense mutation causes core rod myopathy. Eur J Neurol 2008;15:e31-e32

Stefovska VG, Uckermann O, Czuczwar M, Smitka M, Czuczwar P, Kis J, Kaindl AM, Turski L, Turski WA, Ikonomidou C. Sedative and anticonvulsant drugs suppress postnatal neurogenesis. Annals of Neurology 2008;64:434-45

Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke C and Müller U . Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosur Ps 2008;79:183-186

Schara U, Kress W, Bönnemann C, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M. The phenotype and long-term follow-up in 11 patients with juvenile Selenoprotein N1 - related myopathy. Eur J Ped Neurol 2008;12:224-230

von der Hagen M, Kress W, Hahn G, Brocke KS, Mitzscherling P, Hübner A, Müller-Reible C, Stoltenburg-Didinger G and Kaindl AM. Novel RYR1 missense mutation causes core rod myopathy. Eur J Neurol 2008;15:e31-2

Kaindl AM, Sifringer M, Zabel C, Stefovska V, von der Hagen M, Felderhoff-Mueser U, Klose U, Ikonomidou H. Einfluß von Hyperoxie auf die Entwicklung des Gehirns. Neuropädiatrie in Klinik und Praxis 2008;3:68-80

Stepulak A, Rzeski W, Sifringer M, Brocke K, Gratopp A, Kupisz K, Turski L, Ikonomidou C. Fluoxetine inhibits the extracellular signal regulated kinase pathway and suppresses growth of cancer cells. Cancer Biol Ther 2008;7:1685-93

Kaindl AM, Koppelstaetter A, Nebrich G, Stuwe J, Sifringer M, Zabel C, Klose J, Ikonomidou C. Brief alteration of NMDA or GABAA receptor-mediated neurotransmission has long term effects on the developing cerebral cortex. Mol Cell Proteomics. 2008;7:2293-310

Papadia S, Soriano FX, Léveillé F, Martel MA, Dakin KA, Hansen HH, Kaindl A, Sifringer M, Fowler J, Stefovska V, McKenzie G, Craigon M, Corriveau R, Ghazal P, Horsburgh K, Yankner BA, Wyllie DJ, Ikonomidou C, Hardingham GE. Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses. Nat Neurosci. 2008;11:476-87.

Hansen HH, Krutz B, Sifringer M, Stefovska V, Bittigau P, Pragst F, Marsicano G, Lutz B, Ikonomidou C. Cannabinoids enhance susceptibility of immature brain to ethanol neurotoxicity. Ann Neurol. 2008;64:42-52

2009

von der Hagen M. Die Muskeldystrophien – Methoden zur Genotyp-Phänotyp-Analyse. Neuropädiatrie in Klinik und Praxis 2009;8:4-9

Schara U, Kress W, Leiendecker B, Bönnemann C, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, Wilichowski E, von der Hagen M. Selenoprotein-N-(SEPN1-) assoziierte Myopathien (SEPN-RM) im Kindes – und Jugendalter – Phänotyp, Langzeitverlauf und Komplikationen. Neuropädiatrie in Klinik und Praxis 2009;8:10-13

Borg K, Stucka R, Locke M, Melin E, Klutzny U, von der Hagen M, Huebner A, Lochmüller H Wrogemann K, Thornell LE, Blake DJ and Schoser B. TRIM32 mutations associated with Sarcotubular Myopathy and LGMD2H impair ubiquitin ligase activity and autoubiquitination. Hum Mut 2009;30:E831-44.

Smitka M, Abolamaali N, Witt M, Gerber JC, Neuhuber W, Buschhueter D, Puschmann S, and Hummel T; Frequeny of olfactory bulb ventricles. Neuroscience 2009,162: 482-5

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genetics in Medicine 2009,11:210-19.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology 2009;73:1926-8

Messina MF, Autunno M, Koehler K, Russo M, Arrigo T, Crisafulli G, Huebner A, De Luca F. Upper and lower motor neuron involvement as presenting manifestation of triple A syndrome. J Endocrinol Invest 2009;32:482-483

Bastian S, Busch W, Kühnel D, Springer A, Meissner T, Holke R, Scholz S, Iwe M, Pompe W, Gelinsky M, Potthoff A, Richter V, Ikonomidou C, Schirmer K. Toxicity of tungsten carbide and cobalt-doped tungsten carbide nanoparticles in mammalian cells in vitro. Environ Health Perspect 2009;117:530-6.

Ikonomidou C. Triggers of apoptosis in the immature brain. Brain Dev 2009;31:488-92

Bercker S, Bert B, Bittigau P, Felderhoff-Müser U, Bührer C, Ikonomidou C, Weise M, Kaisers UX, Kerner T. Neurodegeneration in newborn rats following propofol and sevoflurane anesthesia. Neurotox Res 2009;16:140-7

Stepulak A, Rzeski W, Sifringer M, Brocke K, Gratopp A, Kupisz K, Turski L, Ikonomidou C. Fluoxetine inhibits the extracellular signal regulated kinase pathway and suppresses growth of cancer cells. Cancer Biol Ther 2008;7:1685-93

2010

Thiele S, Werner R, Ahrens W, Hübner A, Hinkel GK, Höppner W, Igl B, Hiort O. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohyoparathyroidism type Ia. Exp Clin Endocrinol Diabetes 2010;118:127-132.

Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R. Treatment of Duchenne muscular dystrophy with ciclosporin A: A randomized, double-blind, placebo-controlled multicentre trial. Lancet Neurol 2010;9:1053-1059.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology 2009;73:1926-8.

Lutz S, Stiegler B, Kress W, von der Hagen M, Schara U. Kongenitale Strukturmyopathien. Med Genetik 2009;21:316-21

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, von der Hagen M, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B. Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat 2009;30:E831-44.

Mihaylova V, Scola R, Gervini B, Lorenzoni PJ, Kamoi CK, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H. Molecular characterization of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry 2010;81:973-7.

Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R. Treatment of Duchenne muscular dystrophy with ciclosporin A: A randomized, double-blind, placebo-controlled multicentre trial. Lancet Neurol 2010;9:1053-9.

Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mut 2010;31:E1564-73.

Kottlors M, Moske-Eick O, Huebner A, Krause S, Müller K, Kress W, Schwarzwald, R, Bornemann A, Haug V, Kirschner J. Late-onset autosomal dominant limb girdle muscular dystrophy and Paget’s disease of bone unlinked to the VCP gene locus. J Neurol Sci 2010 ;291 :79-85.

Brocke KS, Staufner C, Luksch H, Geiger KD, Stepulak A, Marzahn J, Schackert G, Temme A, Ikonomidou C. Glutamate receptors in pediatric tumors of the central nervous system. Cancer Biol Ther. 2010;15:455-68

Schädlich D, Friebel D, Schallner J, Gehrisch S, Siegert G, Kuhlisch E, Knöfler R. Evaluation of haemostasis in children treated with valproic aci. Hamostaseologie. 2010;30:S132-S137

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Homozygous loss of CHRNA7 on chromosome 15q13.3. causes severe encephalopathy with seizures and hypotonia. Am J Med Genet 2010;152A:2908-11

2011

Dumic M, Barisic N, Rojnik Putarek N, Kusec V, Stanimirovic A, Koehler K, Huebner A. Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr 2011;170:393-396

Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. A founder mutation in anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain 2011;134:171-182

Senderek J, Müller J, Dusl M, Strom TM, Guergueltchecva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Huebner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmülller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011;88:162-172

Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Burger W, Meissner T, Schober E, Huebner A, Lee-Kirsch MA. Diabetes mellitus and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care 2011;34:1503-1510

Moschos MM, Margetis I, Koehler K, Huebner A. New ophthalmologic features in a family with tripleA syndrome. International Ophthalmology 2011;31:239-243

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscular Disord 2011;21:556-562

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscular Disord 2011;21:20-30

Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia. Am J Med Genet 2011;155A;1981-1986.

Hummel T, Smitka M, Puschmann S, Gerber JC, Schaal B, Buschhüter D. Correlation between olfactory bulb volume and olfactory function in children and adolescents. Exp Brain res 2011;214:285-291

Jung NH, Heinen F, Westhoff B, Doederlein L, Reissig A, Berweck S, Linder-Lucht M, Schandelmaier S, Mall V; German Abo study group. Hip lateralisation in children with bilateral spastic cerebral palsy treated with botulinum toxin type A: a 2-year follow-up. Neuropediatrics 2011;42:18-23

Delvendahl I, Kuhnke NG, Jung NH, Mainberger F, Cronjaeger M, Unterrainer J, Hauschke D, Mall V. The time course of motor cortex plasticity after spaced motor practice. Brain Stimul. 2011;4:156-64

Pechmann A, Delvendahl I, Bergmann TO, Ritter C, Hartwigsen G, Gleich B, Gattinger N, Mall V, Siebner HR. The number of full-sine cycles per pulse influences the efficacy of multicycle transcranial magnetic stimulation. Brain Stimul. 2011 Apr 19

2012

Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, Jeanpierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis. 2012 Apr 6.

Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A Di Donato N Partial deletion of GLRB and GRIA2 in a patient with intellectual disability European Journal of Human Genetics advance 10.1038/ejhg.2012.97

Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Müller JS, Lochmüller H. Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice-A study of 680 patients. Hum Mutat 2012;10.1002

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S. Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome.
Am J Med Genet A. 2012 Jul 20. doi: 10.1002/ajmg.a.35481.

Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E. Macrocerebellum: Significance and Pathogenic Considerations. Cerebellum. 2012 Apr 14. [Epub ahead of print]

van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC. ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14.

Smitka M, Puschmann S, Buschhueter D, Gerber JC, Witt M, Honeycutt N, Abolmaali N, Hummel T. Is there a correlation between hippocampus and amygdala volume and olfactory function in healthy subjects? Neuroimage. 2012;59:1052-7

2013

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, Von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain. 2013;136:508-21.

Gallenmüller C, Dusl M, Blaschek A, Müller-Felber W, Von der Hagen M, Hübner A, Guergueltcheva V, Lochmüller H, Müller J, Abicht A. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK Neuromuscular Disord, Seite doi: 10.1016/j.nmd.2013.08.002.

Hackmann K, Matko S, Gerlach EM, Von der Hagen M, Klink B, Schrock E, Rump A Di Donato N Partial deletion of GLRB and GRIA2 in a patient with intellectual disability Eur J Hum Genet. 2013;21:112-4.

Sarrazin E, Von der Hagen, M, Schara U, von Au K, Kaindl AM. Growth and psychomotor development of patients with Duchenne Muscular Dystrophy.
Eur J Ped Neurol 2013; Seite doi: 10.1016/j.ejpn.2013.08.008.

Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock, E, Rump A, Fauth C, Tinschert S, Oexle K. Severe Intellectual Disability, West Syndrome, Dandy-Walker Malformation, and Syndactyly in a Patient with Patial Tetrasomy 127q25.3. American Journal of medical genetics, June 2013

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman K, Lanpher B, Pearl Ph, Gropman A, Lourenco Ch, Bamforth J-St, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Lesnick Oberstein S, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap M. Characteristic Brain Magnetic Resonance Imaging Pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A, 2013, Seite doi:10.1002/ajmg.a.36309.

Schleede L, Bueter W, Baumgartner-Sigl S, Opladen T, Weigt-Usinger K, Stephan S, Smitka M, Leiz S, Kaiser O, Kraus V, van Baalen A, Skopnik H, Hartmann H, Rostasy K, Lücke T, Schara U, Häusler M. Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience. J Child Neurol. 2013 Mar;28(3):321-31.

Smitka M, Nolte-Buchholtz S. Genetische Erkrankungen im Kindesalter (Nicht-Tumor-
Erkrankungen). Palliativmedizin 1000 Fragen. (1. Aufl.) Seite 267-272

Kühn M, Abolmaali N, Smitka M, Podlesek D, Hummel T. Dysosmia: Current aspects of diagnostics and therapy.HNO 61, 2013, S. 975-84, quiz 985

Mainberger F, Jung NH, Zenker M, Wahlländer U, Freudenberg L, Langer S, Berweck S, Winkler T, Straube A, Heinen F, Granström S, Mautner VF, Lidzba K, Mall V. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol. 2013, S. 131-142

Mainberger F, Zenker M, Jung NH, Delvendahl I, Brandt A, Freudenberg L, Heinen F, Mall V. Impaired motor cortex plasticity in patients with Noonan syndrome. Clin Neurophysiol. 2013 Dec;124(12):2439-44. doi: 10.1016/j.clinph.2013.04.343. Epub 2013 Jun 10.

2014

Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K, Horsthemke B.
Clinical phenotypes of MAGEL2 mutations and deletions. Orphanet J Rare Dis. 2014 Mar 25;9:40. doi: 10.1186/1750-1172-9-40. No abstract available.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Hübner A, Müller JS, Lochmüller H, Abicht A. Salbutamol-responsive limb-girdle congenital mysthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscular Disorders 24, 2014, 31-35.

Haberlova J, Mitrovic Z, Zarkovic K, Lovric D, Baric V, Berlengi L, Bilic K, Fumic K, Kranz K, Hübner A, von der Hagen M, Barresi R, Bushby K, Straub V, Baric I, Lochmüller H. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy. Neuromuscular Disorders 24, 2014, 990-992.

Sarrazin E, von der Hagen M, Schara U, von Au K, Kaindl Am. Growth and psychomotor development of patients with Duchenne muscular dystrophy. Eur J Ped Neurol 18, 2014, 38-44.

von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol. 2014 Aug;56(8):732-41. doi: 10.1111/dmcn.12425. Epub 2014 Mar 12.

Martin KD, Franz B, Kirsch M, Polanski W, von der Hagen M, Schackert G, Sobottka SB.
Autologous bone flap cranioplasty following decompressive craniectomy is combined with a high complication rate in pediatric traumatic brain injury patients. Acta Neurochir (Wien). 2014 Apr;156(4):813-24. doi: 10.1007/s00701-014-2021-0. Epub 2014 Feb 16.

Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. Eur J Paediatr Neurol. 2014 Nov 3. pii: S1090-3798(14)00174-3. doi: 10.1016/j.ejpn.2014.10.005. [Epub ahead of print]

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

Vanderver A1, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3): 627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20.

Hackmann K1, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K. Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. Am J Med Genet A. 2013 Dec;161A(12):3144-9. doi: 10.1002/ajmg.a.36155. Epub 2013 Aug 16.

Schriever VA, Studt F, Smitka M, Grosser K and Hummel T (2014) Olfactory function after mild head injury in children. Chem Senses 39: 343-347.

Schriever VA, Lehmann S, Prange J and Hummel T (2014) Preventing olfactory deterioration: olfactory training may be of help in older people. J Am Geriatr Soc 62: 384-386.

Schriever VA, Gois-Eanes M, Schuster B, Huart C, Hummel T (2014) Olfactory Event-Related Potentials in Infants. J Pediatr.

Schriever VA, Mori E, Petters W, Boerner C, Smitka M, Hummel T (2014) The “sniffin’ kids” test – a 14-item odor identification test for chidrel. PLoS One, 9(6): p. e101086.

Sorokowska A, Schriever VA, Gudziol V, Hummel C, Hahner A, Lannilli E, Sinding C, Aziz M, Seo HS, Negoias S, Hummel T (2014). Changes of olfactory abilities in relation to age: odor identification in more than 1400 people aged 4 to 80 years. Eur Arch Otorhinolaryngol.

Schriever VA, Abolmaali N, Welge-Lussen A. Diagnosis of olfactory disorders. HNO, 2014, 62: 853-859.

2015

Mückschel M., Smitka M., Hermann A., von der Hagen M., Beste C. Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration. Brain Struct Funct 2015

Rudnik-Schöneborn S., Tölle D., Senderek J., Eggermann K., Elbracht M., Kornak U., von der Hagen M., Kirschner J., Leube B., Müller-Felber W., Schara U., von Au K., Wieczorek D., Bußmann C., Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet 2015;89:34-43.

Kobus K., Hartl D., Ott C.E., Osswald M., Huebner A., von der Hagen M., Emmerich D., Kühnisch J., Morreau H., Hes F.J., Mautner V.F., Harder A., Tinschert S., Mundlos S., Kolanczyk M. Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.
PLoS One. 2015;16;10:e0119030

Güttsches A.K., Dekomien G., Claeys K.G., von der Hagen M., Huebner A., Kley R.A., Kirschner J., Vorgerd M. Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscul Disord. 2015;25:392-6

Beste C., Ocklenburg S., von der Hagen M., Di Donato N. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.Brain Struct Funct. 2015 May 1

Juratli T.A., Geiger K.D., Weigel P., von der Hagen M., Daubner D., Pinzer T., Hahn G., Schackert G., Kirsch M. A five year-old child with clear cell petro-clival meningioma: case report with clinical and histopathological long-term follow-up.Childs Nerv Syst. 2015; 31:2193-8

Petersen J.A., Kuntzer T., Fischer D., von der Hagen M., Huebner A., Kana V., Lobrinus J.A., Kress W., Rushing E.J., Sinnreich M., Jung H.H. Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.BMC Neurol. 2015;6;15:182

Stächele J., Kokoschka M., Toepfner N., Smitka M., Bau V., Stedtler U., von der Hagen M. and Suttorp M. Toxic Optic Neuritis due to Isotretinoin in a Child with Neuroblastoma: A Case Report. J Clin Toxicol 2015, 5:2. open-access article

Heussinger N., Kontopantelis E., Gburek-Augustat J., Jenke A., Vollrath G., Korinthenberg R., Hofstetter P., Meyer S., Brecht I., Kornek B., Herkenrath P., Schimmel M., Wenner K., Häusler M., Lutz S., Karenfort M., Blaschek A., Smitka M., Karch S., Piepkorn M., Rostasy K., Lücke T., Weber P., Trollmann R., Klepper J., Häussler M., Hofmann R., Weissert R., Merkenschlager A., Buttmann M.; for GRACE-MS (German-speaking Research Alliance for Children with Multiple Sclerosis). Oligoclonal bands predict multiple sclerosis in children with optic neuritis. Ann Neurol. 2015;77:1076-82

Hahn A., Praetorius S., Karabul N., Dießel J., Schmidt D., Motz R., Haase C., Baethmann M., Hennermann J.B., Smitka M., Santer R., Muschol N., Meyer A., Marquardt T., Huemer M., Thiels C., Rohrbach M., Seyfullah G., Mengel E. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep. 2015;20:65-75.

Mackenroth L., Hackmann K., Beyer A., Schallner J., Novotna B., Klink B., Schröck E., Di Donato N. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities. Am J Med Genet A. 2015;167A:2800-7.

Schriever V.A., Frenzel C., Wernecke S., Croy I., Valder C., Hummel T. Olfactory speed – Temporal odor processing of paired stimuli. Neuroscience 2015;295:72-79.

Sorokowska A. Schriever V.A., Gudziol V., Hummel C., Hahner A., Iannilli E., Sinding C., Aziz M., Seo H.S., Negoias S., Hummel T. Changes of olfactory abilities in relation to age: odor identification in more than 1400 people aged 4 to 80 years. Eur Arch Otorhinolaryngol 2015; 272:1937-1944.

Mori E., Petters W., Schriever V.A., Valder C., Hummel T. Exposure to odours improves olfactory function in healthy children. Rhinology 2015;53:221-6

Schriever V.A., Hummel T. Subjective changes in nasal patency after chewing a menthol-containing gum in patients with olfactory loss. Acta Otolaryngol 2015;135:254-257.

Schriever V.A., Boerner C, Mori E, Smitka M, Hummel T. Changes of olfactory processing in childhood and adolescence. Neuroscience 2015;287:15-22

Kinder S., Ossig C., Wienecke M., Beyer A., von der Hagen M., Storch A., Smitka M. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. European Journal of Paediatric Neurology 2015;19:72-74

Novotna B., Breza J.ml., Danilla, T. Dermatologicka symptomatologia komplexu tuberoznej Sklerozy. Kniha abstraktov z X. Kongresu slovenskych a ceskych dermatologov s medzinarodnou ucastou. Strbske Pleso 2014;12-14,19-20

Sasinka, M., Furkova, K., Novotna, B. Dedicne autozomovo dominantne choroby obliciek.
Lek Obzor 2014,63:234-242

Novotna, B., Breza, J. ml., Bardos, A., Breza, J. Co by mali urologovia vediet o komplexe tuberoznej sklerozy. Ceska Urol 2014,18:92

Soltysova, A., Breza, J., Takacova, M., Feruszova, J., Hudecova, S., Novotna, B., Rozborilova, E., Pastorekova, S., Kadasi, L., Krizanova, O. Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling. Int J Oncol 2015, 45:287-295

Novotna, B. Urologicke aspekty komplexu tuberoznej sklerozy. S 458-466. In: Breza., J. et al. (Eds): Principy chirurgie IV. Bratislava, Slovak Academic Press, 2015. 1022s.

Novotna, B. Nadory obliciek u deti. S. 467-477. Kapitel in: Breza, J. et al. (Eds): Principy chirurgie IV. Bratislava, Slovak Academic Press, 2015. 1022s.

2016

Beste C, Ocklenburg S, von der Hagen M, Di Donato N. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture. Brain Struct Funct. 2016 Jun;221(5): 2487-2491.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M. Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. Neuropediatrics. 2016 Jun;47(3):182-186.

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511

Kühn M, Abolmaali N, Smitka M, Podlesek D, Hummel T. Olfactory dysfunction : Update on diagnosis and treatment.
HNO. 2016 Jul;64(7):517-29. doi: 10.1007/s00106-016-0175-1. German.

Mückschel M, Smitka M, Hermann A, von der Hagen M, Beste C. Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration. Brain Struct Funct. 2016 May;221(4):2251-7. doi: 10.1007/s00429-015-1041-8.

Nolte-Buchholtz S, von der Hagen M. Pädiatrische Palliativversorgung von Kindern mit neurologischen Erkrankungen. Neuropädiatrie in Klinik und Praxis 2016;15:130-139

Novotna B, Takacova M, Hudecova S, Lencesova L, Breza J Jr, Misak A, Csaderova L, Pastorekova S, Krizanova O, Breza J. Activation of the ER stress and calcium signaling in angiomyolipoma. Neoplasma. 2016;63(5):687-95. doi: 10.4149/neo_2016_505.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62.

Tüngler V, König N, Günther C, Engel K, Fiehn C, Smitka M, von der Hagen M, Berner R, Lee-Kirsch MA. Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al. Ann Rheum Dis. 2016 Dec;75(12):e76. doi: 10.1136/annrheumdis-2016-210565. No abstract available.

von der Hagen M, Bodechtel U, Pütz V, Hahn G, Hedrich C, Brenner S, Linn J, Knöfler R Schlaganfall im Kindesalter. Pädiatrische Praxis 2016; 86:55-68

von der Hagen M, Hennermann JB, John R, Spors B, von Bernuth H, Kaindl AM. Neuropädiatrische Differentialdiagnostik der Mikrozephalie im Kindesalter. Med Genetik 2016, 28:1-14

Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann, K. Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. Orphanet Journal of Rare Diseases 2016 11:104.