Publications by authors named "Regina Trollmann"

53Publications

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Eur J Med Genet 2020 Sep 2;63(9):103998. Epub 2020 Jul 2.

Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103998DOI Listing
September 2020

Manipulation of Medicinal Products for Oral Administration to Paediatric Patients at a German University Hospital: An Observational Study.

Pharmaceutics 2020 Jun 23;12(6). Epub 2020 Jun 23.

Department of Paediatrics and Adolescent Medicine, Universitätsklinikum Erlangen, 91054 Erlangen, Germany.

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http://dx.doi.org/10.3390/pharmaceutics12060583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355957PMC
June 2020

Differential Coassembly of α1-GABARs Associated with Epileptic Encephalopathy.

J Neurosci 2020 Jul 8;40(29):5518-5530. Epub 2020 Jun 8.

Department of Neuroscience, Physiology and Pharmacology, University College London, London, WC1E 6BT, United Kingdom

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http://dx.doi.org/10.1523/JNEUROSCI.2748-19.2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363476PMC
July 2020

Seizure-induced neuronal apoptosis is related to dysregulation of the RNA-edited GluR2 subunit in the developing mouse brain.

Brain Res 2020 05 4;1735:146760. Epub 2020 Mar 4.

Department of Pediatrics, Division of Neuropediatrics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2020.146760DOI Listing
May 2020

Ultra-high-frequency ultrasound in patients with spinal muscular atrophy: A retrospective feasibility study.

Muscle Nerve 2020 03 9;61(3):E18-E21. Epub 2020 Jan 9.

Department of Pediatrics and Adolescent Medicine, Friedrich Alexander University of Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/mus.26796DOI Listing
March 2020

Development and Usability Analysis of a Multimedia eConsent Solution.

Stud Health Technol Inform 2019 Sep;267:297-303

Friedrich-Alexander-Universität Erlangen-Nürnberg.

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http://dx.doi.org/10.3233/SHTI190841DOI Listing
September 2019

C1 Esterase Inhibitor Reduces BBB Leakage and Apoptosis in the Hypoxic Developing Mouse Brain.

Neuromolecular Med 2020 03 14;22(1):31-44. Epub 2019 Aug 14.

Division of Neuropediatrics, Department of Pediatrics, Friedrich-Alexander University Erlangen-Nürnberg, Loschgestr. 15, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s12017-019-08560-8DOI Listing
March 2020

Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.

Epilepsy Behav 2019 09 10;98(Pt A):88-95. Epub 2019 Jul 10.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany; Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.06.021DOI Listing
September 2019

Orthotic Care Based on the Ferrari Concept for Children and Adults with Meningomyelocele.

Z Orthop Unfall 2019 Dec 10;157(6):695-705. Epub 2019 Jul 10.

Department of Orthopaedics, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Medical Faculty, Erlangen.

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http://dx.doi.org/10.1055/a-0853-8009DOI Listing
December 2019

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Neuromyelitis Optica Spectrum Disorder in a 6-Year-Old Boy.

Klin Padiatr 2019 07 7;231(4):220-223. Epub 2019 May 7.

Department of Pediatrics, University of Erlangen, Erlangen.

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http://dx.doi.org/10.1055/a-0860-5590DOI Listing
July 2019

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Eur J Paediatr Neurol 2019 May 28;23(3):392-403. Epub 2019 Feb 28.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Germany; Department of Neuropediatrics, Goethe-University Frankfurt, Frankfurt am Main, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2019.02.014DOI Listing
May 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

Na MRI depicts early changes in ion homeostasis in skeletal muscle tissue of patients with duchenne muscular dystrophy.

J Magn Reson Imaging 2019 10 4;50(4):1103-1113. Epub 2019 Feb 4.

Institute of Radiology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jmri.26681
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http://dx.doi.org/10.1002/jmri.26681DOI Listing
October 2019

[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].

Ophthalmologe 2019 Aug;116(8):780-784

Kinder- und Jugendklinik am Universitätsklinikum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland.

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http://link.springer.com/10.1007/s00347-018-0796-8
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http://dx.doi.org/10.1007/s00347-018-0796-8DOI Listing
August 2019

Differential regulation of angiogenesis in the developing mouse brain in response to exogenous activation of the hypoxia-inducible transcription factor system.

Brain Res 2018 06 13;1688:91-102. Epub 2018 Mar 13.

Department of Pediatrics, Division of Neuropediatrics, Friedrich-Alexander University of Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2018.03.012DOI Listing
June 2018

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.

Brain Dev 2018 Apr 27;40(4):330-333. Epub 2017 Nov 27.

Department of Pediatrics, Neuropediatrics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.braindev.2017.11.005DOI Listing
April 2018

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

Neuromuscul Disord 2018 01 28;28(1):54-58. Epub 2017 Sep 28.

Department of Pediatrics, Neuropediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Federal Republic of Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173017
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http://dx.doi.org/10.1016/j.nmd.2017.09.009DOI Listing
January 2018

Oxygen-sensitive regulation and neuroprotective effects of growth hormone-dependent growth factors during early postnatal development.

Am J Physiol Regul Integr Comp Physiol 2017 04 22;312(4):R539-R548. Epub 2017 Feb 22.

Division of Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany; and

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http://dx.doi.org/10.1152/ajpregu.00477.2016DOI Listing
April 2017

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

Neuropediatrics 2017 Apr 13;48(2):127-130. Epub 2017 Feb 13.

Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

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http://dx.doi.org/10.1055/s-0037-1598646DOI Listing
April 2017

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Pediatr Neurol 2017 02 17;67:45-52. Epub 2016 Oct 17.

Department of Pediatrics, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994163032
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http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.007DOI Listing
February 2017

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

Diffuse Encephalopathy Associated with Isolated Cerebral Langerhans Cell Histiocytosis.

Pediatr Neurol 2016 09 11;62:62-5. Epub 2016 May 11.

Department of Pediatrics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.05.006DOI Listing
September 2016

Hypoxia Potentiates LPS-Mediated Cytotoxicity of BV2 Microglial Cells In Vitro by Synergistic Effects on Glial Cytokine and Nitric Oxide System.

Neuropediatrics 2015 Oct 10;46(5):321-8. Epub 2015 Sep 10.

Department of Pediatrics, University Hospital for Children and Adolescents, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1055/s-0035-1562924DOI Listing
October 2015

Activin A in perinatal brain injury.

Neuropediatrics 2015 Apr 13;46(2):82-7. Epub 2015 Mar 13.

Division of Neuropediatrics, Department of Pediatrics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1055/s-0035-1547345DOI Listing
April 2015

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Am J Med Genet A 2014 Dec 23;164A(12):3162-9. Epub 2014 Sep 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36766DOI Listing
December 2014

Preterm small-for-gestational age children: predictive role of gestational age for mental development at the age of 2 years.

Brain Dev 2015 Apr 5;37(4):394-401. Epub 2014 Aug 5.

Department of Pediatrics, University of Erlangen-Nürnberg, Germany.

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http://dx.doi.org/10.1016/j.braindev.2014.06.012DOI Listing
April 2015

Ratiometric luminescence 2D in vivo imaging and monitoring of mouse skin oxygenation.

Methods Appl Fluoresc 2013 Aug 12;1(4):045002. Epub 2013 Aug 12.

Mikrobiologisches Institut-Klinische Mikrobiologie, Immunologie und Hygiene, Universitätsklinikum Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Wasserturmstraße 3-5, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1088/2050-6120/1/4/045002DOI Listing
August 2013

Activin A regulation under global hypoxia in developing mouse brain.

Brain Res 2013 Sep 31;1531:65-74. Epub 2013 Jul 31.

Department of Pediatrics, Friedrich-Alexander Universität Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.brainres.2013.07.039DOI Listing
September 2013

Ultrasound-guided neuronavigation improves safety of ventricular catheter insertion in preterm infants.

Brain Dev 2013 Nov 21;35(10):905-11. Epub 2012 Dec 21.

Department of Pediatrics, University of Erlangen-Nuremberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2012.11.008DOI Listing
November 2013

Acute hypoxia modifies regulation of neuroglobin in the neonatal mouse brain.

Exp Neurol 2012 Jul 19;236(1):112-21. Epub 2012 Apr 19.

Department of Pediatrics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S001448861200158
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http://dx.doi.org/10.1016/j.expneurol.2012.04.006DOI Listing
July 2012

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Eur J Pediatr 2012 May 25;171(5):859-62. Epub 2012 Jan 25.

Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestrasse 15, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00431-011-1662-8DOI Listing
May 2012

Systemic hypoxia differentially affects neurogenesis during early mouse brain maturation.

Brain Dev 2012 Apr 6;34(4):261-73. Epub 2011 Aug 6.

Department of Pediatrics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.braindev.2011.07.006DOI Listing
April 2012

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Pediatr Neurol 2011 Jun;44(6):475-7

Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestrasse 15, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.01.012DOI Listing
June 2011

Fetal programming of gene expression in growth-restricted rats depends on the cause of low birth weight.

Endocrinology 2011 Apr 25;152(4):1327-35. Epub 2011 Jan 25.

Department of Pediatrics, University of Erlangen-Nuremberg, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1210/en.2010-1116DOI Listing
April 2011

Late-gestational systemic hypoxia leads to a similar early gene response in mouse placenta and developing brain.

Am J Physiol Regul Integr Comp Physiol 2010 Dec 6;299(6):R1489-99. Epub 2010 Oct 6.

Department of Pediatrics, University of Erlangen, Erlangen, Germany.

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http://www.physiology.org/doi/10.1152/ajpregu.00697.2009
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http://dx.doi.org/10.1152/ajpregu.00697.2009DOI Listing
December 2010

Neonatal somatosensory evoked potentials: maturational aspects and prognostic value.

Pediatr Neurol 2010 Jun;42(6):427-33

Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.12.007DOI Listing
June 2010

The role of hypoxia-inducible transcription factors in the hypoxic neonatal brain.

Brain Dev 2009 Aug 26;31(7):503-9. Epub 2009 Apr 26.

Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg Loschgestrasse 15, 91054 Erlangen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040900090
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http://dx.doi.org/10.1016/j.braindev.2009.03.007DOI Listing
August 2009

Fast-in, fast-out.

Lancet 2009 Apr;373(9672):1398

Hospital for Children and Adolescents, University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/S0140-6736(09)60570-5DOI Listing
April 2009

Placental HIFs as markers of cerebral hypoxic distress in fetal mice.

Am J Physiol Regul Integr Comp Physiol 2008 Dec 1;295(6):R1973-81. Epub 2008 Oct 1.

Department of Pediatrics, University of Erlangen, Erlangen, Germany.

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http://dx.doi.org/10.1152/ajpregu.00053.2008DOI Listing
December 2008

HIF-1-regulated vasoactive systems are differentially involved in acute hypoxic stress responses of the developing brain of newborn mice and are not affected by levetiracetam.

Brain Res 2008 Mar 10;1199:27-36. Epub 2008 Jan 10.

Institute of Veterinary Physiology, Vetsuisse Faculty, and Zurich Center for Integrative Human Physiology, University of Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.brainres.2007.12.069DOI Listing
March 2008

Differential gene expression of somatotrophic and growth factors in response to in vivo hypoxia in human placenta.

Am J Obstet Gynecol 2007 Dec;197(6):601.e1-6

Department of Pediatrics, Faculty of Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ajog.2007.04.008DOI Listing
December 2007

Growth in pre-pubertal children with myelomeningocele (MMC) on growth hormone (GH): the KIGS experience.

Pediatr Rehabil 2006 Apr-Jun;9(2):144-8

Department of Pediatrics, Friedrich-Alexander-University of Erlangen, Erlangen, Germany.

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http://dx.doi.org/10.1080/13638490500373465DOI Listing
June 2006