Publications by authors named "Corinna Hartmann"

9Publications

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

Parkinsonism Relat Disord 2017 Jul 20;40:73-75. Epub 2017 Apr 20.

Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.04.013DOI Listing
July 2017

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

Neurol Genet 2016 Oct 13;2(5):e106. Epub 2016 Sep 13.

Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022844PMC
October 2016

Launching the movement disorders society genetic mutation database (MDSGene).

Mov Disord 2016 05;31(5):607-9

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.26651DOI Listing
May 2016

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy.

Epilepsy Behav 2013 Dec 1;29(3):589-90. Epub 2013 Oct 1.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Building 9, 24105 Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2013.08.032DOI Listing
December 2013

The unexpected role of copy number variations in juvenile myoclonic epilepsy.

Epilepsy Behav 2013 Jul;28 Suppl 1:S66-8

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.yebeh.2012.07.005DOI Listing
July 2013