Publications Authored by Ellen Knierim

MutationDistiller: user-driven identification of pathogenic DNA variants.

Authors:

Daniela Hombach Markus Schuelke Ellen Knierim Nadja Ehmke Jana Marie Schwarz Björn Fischer-Zirnsak Dominik Seelow

Nucleic Acids Res 2019 Jul;47(W1):W114-W120

Berliner Institut für Gesundheitsforschung (BIH), Berlin, Germany Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkz330	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602447	PMC

July 2019

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Authors:

Marc Nikolaus Anna Tietze Leonille Schweizer Angela M Kaindl Werner Stenzel Markus Schuelke Ellen Knierim

Brain Dev 2019 Jul 22. Epub 2019 Jul 22.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.07.002	DOI Listing

July 2019

De novo mutation in causes ichthyosis, , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Authors:

Noomi Mueller Takayuki Sassa Susanne Morales-Gonzalez Joanna Schneider Daniel J Salchow Dominik Seelow Ellen Knierim Werner Stenzel Akio Kihara Markus Schuelke

J Med Genet 2019 Mar 28;56(3):164-175. Epub 2018 Nov 28.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2018-105711	DOI Listing

March 2019

CSF reactivity in GABA receptor antibody encephalitis - Immunocytochemical distribution in the murine brain.

Authors:

Marc Nikolaus Jakob Kreye Paul Turko Imre Vida Ellen Knierim Harald Prüss

Brain Res 2019 02 19;1704:249-256. Epub 2018 Oct 19.

Department of Neurology, Charité - Universitätsmedizin Berlin and German Center for Neurodegenerative Diseases (DZNE) Berlin, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00068993183053	Publisher Site
http://dx.doi.org/10.1016/j.brainres.2018.10.019	DOI Listing

February 2019

Phenotero: Annotate as you write.

Authors:

Daniela Hombach Jana M Schwarz Ellen Knierim Markus Schuelke Dominik Seelow Sebastian Köhler

Clin Genet 2019 Feb 7;95(2):287-292. Epub 2018 Dec 7.

NeuroCure Clinical Research Center, Charité Universitätsmedizin, Berlin, Germany.

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http://doi.wiley.com/10.1111/cge.13471	Publisher Site
http://dx.doi.org/10.1111/cge.13471	DOI Listing

February 2019

Severe GABA receptor encephalitis without seizures: A paediatric case successfully treated with early immunomodulation.

Authors:

Marc Nikolaus Ellen Knierim Christian Meisel Jakob Kreye Harald Prüss Dirk Schnabel Tilmann Kallinich

Eur J Paediatr Neurol 2018 May 9;22(3):558-562. Epub 2018 Jan 9.

Center for Chronically Sick Children, Paediatric Endocrinology, Charité University Medicine, Berlin, Germany; Paediatric Pneumology and Immunology, Charité University Medicine, Berlin and Charité University Medicine, Center for Chronically Sick Children, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.002	DOI Listing

May 2018

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Am J Hum Genet 2018 05;102(5):858-873

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2018.03.011	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986733	PMC

May 2018

Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child.

Authors:

Marc Nikolaus Sabine Jackowski-Dohrmann Harald Prüss Markus Schuelke Ellen Knierim

Neurology 2018 01 20;90(4):183-185. Epub 2017 Dec 20.

From Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, HumboldtUniversität zu Berlin, and Berlin Institute of Health (M.N., H.P., M.S., E.K.); Vivantes Klinikum Neukoelln (S.J.-D.); German Center for Neurodegenerative Diseases (DZNE) (H.P.); and NeuroCure Clinical Research Center (M.S., E.K.), Berlin, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000004861	DOI Listing

January 2018

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Authors:

Ellen Knierim Esther Gill Franziska Seifert Susanne Morales-Gonzalez Sathya D Unudurthi Thomas J Hund Werner Stenzel Markus Schuelke

Hum Genet 2017 07 24;136(7):903-910. Epub 2017 May 24.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-017-1814-7	DOI Listing

July 2017

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Authors:

Hao Hu Christoph Hübner Zoltan Lukacs Luciana Musante Esther Gill Thomas F Wienker Hans-Hilger Ropers Ellen Knierim Markus Schuelke

Eur J Hum Genet 2017 02 9;25(2):253-256. Epub 2016 Nov 9.

Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.149	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255949	PMC

February 2017

Acute isolated partial oculomotor nerve palsy due to Lyme neuroborreliosis in a 5 year old girl.

Authors:

Anne Drenckhahn Birgit Spors Ellen Knierim

Eur J Paediatr Neurol 2016 Nov 13;20(6):977-979. Epub 2016 Jun 13.

Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.05.022	DOI Listing

November 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Authors:

Denise Horn Bernhard Weschke Ellen Knierim Björn Fischer-Zirnsak Werner Stenzel Markus Schuelke Tomasz Zemojtel

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37798	DOI Listing

September 2016

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Am J Hum Genet 2016 Mar 25;98(3):473-489. Epub 2016 Feb 25.

Department of Neuropediatrics, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany; NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.01.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800037	PMC

March 2016

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

Authors:

Anne Drenckhahn Markus Schuelke Ellen Knierim

J Inherit Metab Dis 2015 Sep 3;38(5):983-4. Epub 2015 Feb 3.

Department of Neuropediatrics and the NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-015-9812-1	DOI Listing

September 2015

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Authors:

Anna Rajab Markus Schuelke Esther Gill Angelika Zwirner Franziska Seifert Susanne Morales Gonzalez Ellen Knierim

J Med Genet 2015 Sep 5;52(9):607-11. Epub 2015 Jun 5.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103083	DOI Listing

September 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Authors:

Gudrun Schottmann Heinz Jungbluth Ulrike Schara Ellen Knierim Susanne Morales Gonzalez Esther Gill Franziska Seifert Fiona Norwood Charu Deshpande Katja von Au Markus Schuelke Jan Senderek

Neurology 2015 Feb 7;84(5):523-31. Epub 2015 Jan 7.

From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's Hospital, St Thomas' Hospital, the Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section and the Department of Clinical Neuroscience, IoP, King's College, London, UK; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics (U.S.), University of Essen, Germany; Department of Neurology (F.N.), King's College Hospital, London; Department of Clinical Genetics (C.D.), Guy's Hospital, London, UK; and Friedrich Baur Institute (J.S.), Department of Neurology, Ludwig Maximilians University Munich, Germany.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000122	Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001220	DOI Listing

February 2015

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Authors:

Ellen Knierim Dominik Seelow Esther Gill Arpad von Moers Markus Schuelke

Mitochondrion 2015 Jan 4;20:1-6. Epub 2014 Nov 4.

NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.10.007	DOI Listing

January 2015

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Authors:

Ellen Knierim Jana Marie Schwarz Markus Schuelke Dominik Seelow

J Med Genet 2013 Aug 31;50(8):529-33. Epub 2013 May 31.

NeuroCure Clinical Research Center, Berlin, Germany.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-101497	Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2012-101497	DOI Listing

August 2013

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.

Authors:

Ellen Knierim Barbara Lucke Jana Marie Schwarz Markus Schuelke Dominik Seelow

PLoS One 2011 30;6(11):e28240. Epub 2011 Nov 30.

NeuroCure Clinical Research Center (NCRC), Charité--Universitätsmedizin Berlin, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028240	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3227650	PMC

April 2012

Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

Authors:

Ellen Knierim Lilia Leisle Christiane Wagner Bernhard Weschke Barbara Lucke Georg Bohner Jens P Dreier Markus Schuelke

Stroke 2011 Feb 23;42(2):e14-7. Epub 2010 Dec 23.

Department of Neuropediatrics, Charité Universitätsmedizin Berlin, D-13353 Berlin, Germany.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.110.600023	Publisher Site
http://dx.doi.org/10.1161/STROKEAHA.110.600023	DOI Listing

February 2011

Ellen Knierim

Ellen Knierim

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