Ellen Knierim

Ellen Knierim

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Ellen Knierim

Ellen Knierim

Publications by authors named "Ellen Knierim"

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MutationDistiller: user-driven identification of pathogenic DNA variants.

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/gkz330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602447PMC
July 2019

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

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.2019.07.002DOI Listing
July 2019

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

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-2018-105711DOI Listing
March 2019

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

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
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http://dx.doi.org/10.1016/j.brainres.2018.10.019DOI Listing
February 2019

Phenotero: Annotate as you write.

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
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http://dx.doi.org/10.1111/cge.13471DOI Listing
February 2019

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

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.2018.01.002DOI Listing
May 2018

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

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.0000000000004861DOI Listing
January 2018

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

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/s00439-017-1814-7DOI Listing
July 2017

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

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.2016.05.022DOI Listing
November 2016

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

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.37798DOI Listing
September 2016

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

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/s10545-015-9812-1DOI Listing
September 2015

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

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-2015-103083DOI Listing
September 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

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
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http://dx.doi.org/10.1212/WNL.0000000000001220DOI 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.

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.2014.10.007DOI Listing
January 2015

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

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
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http://dx.doi.org/10.1161/STROKEAHA.110.600023DOI Listing
February 2011