Publications by authors named "Marco Henneke"

27Publications

[Unilateral optic atrophy in a 9-year-old patient].

Ophthalmologe 2020 Jul 1. Epub 2020 Jul 1.

Klinik für Augenheilkunde, Universitätsmedizin Göttingen, Göttingen, Deutschland.

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http://dx.doi.org/10.1007/s00347-020-01147-wDOI Listing
July 2020

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.

Biol Open 2020 May 7;9(5). Epub 2020 May 7.

Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Robert- Koch- Str. 40, 37075 Goettingen, Germany

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http://dx.doi.org/10.1242/bio.049239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225086PMC
May 2020

The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2-deficient leukoencephalopathy.

Glia 2020 07 25;68(7):1531-1545. Epub 2020 Mar 25.

The Bateson Centre, Department of Infection, Immunity and Cadiovascular Disease, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1002/glia.23829DOI Listing
July 2020

Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.

Neuropediatrics 2019 08 21;50(4):211-218. Epub 2019 May 21.

Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg August University Göttingen, Germany.

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http://dx.doi.org/10.1055/s-0039-1685529DOI Listing
August 2019

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

PLoS Genet 2015 Mar 6;11(3):e1005050. Epub 2015 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052PMC
March 2015

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Eur J Paediatr Neurol 2014 Jul 8;18(4):495-501. Epub 2014 Apr 8.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.009DOI Listing
July 2014

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Eur J Med Genet 2013 Nov 28;56(11):599-602. Epub 2013 Sep 28.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.09.010DOI Listing
November 2013

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

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

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Eur J Hum Genet 2010 Sep 5;18(9):985-92. Epub 2010 May 5.

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

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http://www.nature.com/articles/ejhg201061
Publisher Site
http://dx.doi.org/10.1038/ejhg.2010.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987409PMC
September 2010

Late onset vanishing white matter disease.

J Neurol 2007 Apr 31;254(4):544-5. Epub 2007 Mar 31.

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http://dx.doi.org/10.1007/s00415-006-0306-9DOI Listing
April 2007

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

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

Am J Med Genet A 2004 Jul;128A(2):156-8

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

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http://dx.doi.org/10.1002/ajmg.a.30068DOI Listing
July 2004

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

Hum Mutat 2003 Nov;22(5):417

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

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http://dx.doi.org/10.1002/humu.9187DOI Listing
November 2003