Knut Brockmann

Knut Brockmann

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Knut Brockmann

Knut Brockmann

Publications by authors named "Knut Brockmann"

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Deficient knowledge in adult care as an incentives for founding Turner centers in Germany.

Endocr Connect 2019 Oct 1. Epub 2019 Oct 1.

H Siggelkow, Gastroenterology and Endocrinology, University of Gottingen Center of Internal Medicine, Gottingen, Germany.

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http://dx.doi.org/10.1530/EC-19-0418DOI Listing
October 2019

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

Front Neurosci 2019 3;13:918. Epub 2019 Sep 3.

Department of Neurology, Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT, United States.

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http://dx.doi.org/10.3389/fnins.2019.00918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733892PMC
September 2019

Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

J Med Genet 2019 Apr 17;56(4):261-264. Epub 2018 Aug 17.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105470
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http://dx.doi.org/10.1136/jmedgenet-2018-105470DOI Listing
April 2019

Erosive tooth wear and caries experience in children and adolescents with obesity.

J Dent 2019 Apr 27;83:77-86. Epub 2019 Feb 27.

Department of Preventive Dentistry, Periodontology and Cariology, University Medical Center, University of Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.jdent.2019.02.005DOI Listing
April 2019

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Orphanet J Rare Dis 2016 07 29;11(1):104. Epub 2016 Jul 29.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Robert Koch Str. 40, 37075, Göttingen, Germany.

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http://dx.doi.org/10.1186/s13023-016-0486-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966602PMC
July 2016

Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.

Photodermatol Photoimmunol Photomed 2016 Mar 15;32(2):110-2. Epub 2015 Dec 15.

Department of Dermatology, Venereology and Allergology, University Medical Center, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1111/phpp.12225DOI Listing
March 2016

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Mol Cytogenet 2014 23;7(1):74. Epub 2014 Oct 23.

Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1186/s13039-014-0074-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064PMC
October 2014

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Hum Mol Genet 2014 Aug 4;23(16):4396-405. Epub 2014 Apr 4.

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany

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http://hmg.oxfordjournals.org/content/23/16/4396.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu156
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http://dx.doi.org/10.1093/hmg/ddu156DOI Listing
August 2014

Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder.

J Neurol Sci 2014 Aug 15;343(1-2):180-2. Epub 2014 May 15.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University Göttingen, Robert Koch Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.jns.2014.05.014DOI Listing
August 2014

The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase.

Cell Metab 2014 Aug 19;20(2):253-66. Epub 2014 Jun 19.

Department of Medicine, University of Utah Health Sciences Center 5C426 School of Medicine, 30 North 1900 East, Salt Lake City, UT 84132-2408, USA; Department of Biochemistry, University of Utah, 15 North Medical Drive East, Salt Lake City, UT 84112-5650, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.05.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126850PMC
August 2014

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

Neurology 2014 Aug 23;83(9):861-3. Epub 2014 Jul 23.

From the Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders and the Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Georg August University, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000735DOI Listing
August 2014

A novel ATP1A3 mutation with unique clinical presentation.

J Neurol Sci 2014 Jun 25;341(1-2):133-5. Epub 2014 Mar 25.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University, Göttingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.03.034DOI Listing
June 2014

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology 2014 Mar 12;82(11):945-55. Epub 2014 Feb 12.

From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000000212DOI Listing
March 2014

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.

J Med Genet 2013 Nov 28;50(11):772-5. Epub 2013 Jun 28.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-101752DOI Listing
November 2013

Episodic movement disorders: from phenotype to genotype and back.

Authors:
Knut Brockmann

Curr Neurol Neurosci Rep 2013 Oct;13(10):379

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Georg August University Göttingen, Germany.

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http://dx.doi.org/10.1007/s11910-013-0379-7DOI Listing
October 2013

Acute onset of adult Alexander disease.

J Neurol Sci 2013 Aug 23;331(1-2):152-4. Epub 2013 May 23.

Department of Neurology, Faculty of Medicine, University of Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.jns.2013.05.006DOI Listing
August 2013

Assessment of myelination in hypomyelinating disorders by quantitative MRI.

J Magn Reson Imaging 2012 Dec 21;36(6):1329-38. Epub 2012 Aug 21.

Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Germany.

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http://dx.doi.org/10.1002/jmri.23774DOI Listing
December 2012

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Orphanet J Rare Dis 2012 Sep 20;7:69. Epub 2012 Sep 20.

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str, 40, Göttingen, 37075, Germany.

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http://dx.doi.org/10.1186/1750-1172-7-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492161PMC
September 2012

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Am J Med Genet A 2011 Aug 7;155A(8):2003-7. Epub 2011 Jul 7.

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34122DOI Listing
August 2011

Towards a more palatable treatment for Glut1 deficiency syndrome.

Authors:
Knut Brockmann

Dev Med Child Neurol 2011 Jul 18;53(7):580-1. Epub 2011 May 18.

Department of Paediatrics and Paediatric Neurology, Faculty of Medicine, Georg-August-University, Göttingen, Germany.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03946.xDOI Listing
July 2011

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.

Brain Dev 2010 Feb 7;32(2):82-9. Epub 2009 May 7.

Children's Hospital, University Medical Center Hamburg-Eppendorf, Germany.

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http://dx.doi.org/10.1016/j.braindev.2009.03.014DOI Listing
February 2010

Polymicrogyria in fetal alcohol syndrome.

Birth Defects Res A Clin Mol Teratol 2010 Feb;88(2):128-31

Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/bdra.20629DOI Listing
February 2010

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

Am J Med Genet A 2009 Dec;149A(12):2832-7

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str. 40, 37075 Göttingen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.33111
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http://dx.doi.org/10.1002/ajmg.a.33111DOI Listing
December 2009

The expanding phenotype of GLUT1-deficiency syndrome.

Authors:
Knut Brockmann

Brain Dev 2009 Aug 21;31(7):545-52. Epub 2009 Mar 21.

Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040900076
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http://dx.doi.org/10.1016/j.braindev.2009.02.008DOI Listing
August 2009

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Eur J Hum Genet 2008 Dec 16;16(12):1499-506. Epub 2008 Jul 16.

Children's Hospital, Technical University Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2008.132DOI Listing
December 2008

Monozygotic twins discordant for Proteus syndrome.

Am J Med Genet A 2008 Aug;146A(16):2122-5

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32417DOI Listing
August 2008

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

J Neurol 2008 Jul 21;255(7):1049-58. Epub 2008 Apr 21.

Dept. of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00415-008-0847-1DOI Listing
July 2008

Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency.

Brain Dev 2007 Jul 15;29(6):357-64. Epub 2006 Dec 15.

Department of Paediatrics and Paediatric Neurology, Georg August University, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.braindev.2006.11.003DOI Listing
July 2007

Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood.

Neuromuscul Disord 2007 Jul 29;17(7):517-23. Epub 2007 May 29.

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.nmd.2007.03.015DOI Listing
July 2007

Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy.

Eur J Paediatr Neurol 2007 May 24;11(3):142-5. Epub 2007 Jan 24.

Department of Pediatrics and Neuropediatrics, Georg-August-University, Goettingen, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2006.11.014DOI Listing
May 2007

Treatment of epilepsy in Rett syndrome.

Eur J Paediatr Neurol 2007 Jan 18;11(1):10-6. Epub 2006 Dec 18.

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2006.09.003DOI Listing
January 2007

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI.

Neuroradiology 2006 Dec 30;48(12):893-8. Epub 2006 Sep 30.

Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://link.springer.com/10.1007/s00234-006-0148-2
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http://dx.doi.org/10.1007/s00234-006-0148-2DOI Listing
December 2006

Pediatric multiple sclerosis: detection of clinically silent lesions by multimodal evoked potentials.

J Pediatr 2006 Jul;149(1):125-7

Department of Pediatrics and Pediatric Neurology, Georg August University Goettingen, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2006.01.003DOI Listing
July 2006

Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces.

Pediatr Neurol 2006 Jan;34(1):35-40

Department of Pediatrics and Neuropediatrics, Georg-August-Universität, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.05.012DOI Listing
January 2006

Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha.

J Pediatr Hematol Oncol 2005 Aug;27(8):436-40

Department of Pediatrics and Neuropediatrics, University Hospital Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1097/01.mph.0000175409.21342.eaDOI Listing
August 2005

Malignant ectomesenchymoma of the cerebrum. Case report and discussion of therapeutic options.

Eur J Pediatr 2005 Jun 4;164(6):345-9. Epub 2005 Mar 4.

Department of Radiotherapy and Radiooncology, University of Göttingen, Robert-Koch-Strasse 40, 37075, Göttingen, Germany.

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http://dx.doi.org/10.1007/s00431-005-1646-7DOI Listing
June 2005

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.

J Neurol 2005 Jun 18;252(6):663-6. Epub 2005 Apr 18.

Dept. of Paediatrics and Neuropaediatrics, Children's Hospital, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00415-005-0713-3DOI Listing
June 2005

Visually self-induced seizures sensitive to round objects.

Epilepsia 2005 May;46(5):786-9

Department of Pediatrics and Neuropediatrics, Georg-August-University, Göttingen, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2005.54004.xDOI Listing
May 2005

Identification of ten novel mutations in patients with eIF2B-related disorders.

Hum Mutat 2005 Apr;25(4):411

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/humu.9325DOI Listing
April 2005

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

Clin Chem 2004 Mar;50(3):638-40

Department of Chemistry, University of Washington, Seattle 98195, USA.

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http://dx.doi.org/10.1373/clinchem.2003.028381DOI Listing
March 2004

Actin-related myopathy without any missense mutation in the ACTA1 gene.

J Child Neurol 2004 Feb;19(2):149-53

Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany.

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http://dx.doi.org/10.1177/08830738040190021201DOI Listing
February 2004

Tarsal tunnel syndrome in a 7-year-old boy.

Eur J Pediatr 2004 Jan 12;163(1):46-7. Epub 2003 Nov 12.

Department of Paediatrics and Neuropaediatrics, University of Göttingen, Robert-Koch-Strasse. 40, 37075 Goettingen, Germany.

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http://link.springer.com/10.1007/s00431-003-1360-2
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http://dx.doi.org/10.1007/s00431-003-1360-2DOI Listing
January 2004

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

Eur Neurol 2003 ;50(2):100-5

Department of Pediatrics and Neuropediatrics, University of Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1159/000072507DOI Listing
November 2003

Progressive muscle weakness after high-dose steroids in two children with CIDP.

Pediatr Neurol 2003 Sep;29(3):236-8

Department of Pediatrics and Neuropediatrics, Georg-August-Universität Göttingen,., Göttingen, Germany.

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http://dx.doi.org/10.1016/s0887-8994(03)00222-4DOI Listing
September 2003

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.

J Neurol 2003 Mar;250(3):300-6

Dept. of Paediatrics and Neuropaediatrics, Children's Hospital, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://link.springer.com/content/pdf/10.1007/s00415-003-0995
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http://link.springer.com/10.1007/s00415-003-0995-2
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http://dx.doi.org/10.1007/s00415-003-0995-2DOI Listing
March 2003

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.

Eur J Pediatr 2003 Jan 19;162(1):6-14. Epub 2002 Nov 19.

Department of Paediatrics and Neuropaediatrics, Georg-August University Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00431-002-1097-3DOI Listing
January 2003

Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.

Brain Dev 2003 Jan;25(1):45-50

Department of Pediatrics and Neuropediatrics, Georg-August-Universität, Children's Hospital, Robert-Koch-Strasse 40, 37075 Goettingen, Germany.

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http://dx.doi.org/10.1016/s0387-7604(02)00154-7DOI Listing
January 2003

Eosinophilic fasciitis leading to painless contractures.

Eur J Pediatr 2002 Oct 21;161(10):528-30. Epub 2002 Aug 21.

Abteilung Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen, Robert Koch Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00431-002-1038-1DOI Listing
October 2002

Juvenile horseplay purpura.

Arch Dermatol 2002 Oct;138(10):1384

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http://dx.doi.org/10.1001/archderm.138.10.1384DOI Listing
October 2002

EEG features of glut-1 deficiency syndrome.

Epilepsia 2002 Aug;43(8):941-5

Department of Pediatrics and Neuropediatrics, Charité Campus Virchow, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1046/j.1528-1157.2002.50401.xDOI Listing
August 2002