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Konstanze Hörtnagel

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Human Molecular Genetics|January 30, 2003
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaKonstanze Hörtnagel, Holger Prokisch, Thomas Meitinger
Dermatology (Basel, Switzerland)|July 12, 2014
Monogenic human skin disordersJohannes R Lemke, Kristin Kernland-Lang, Konstanze Hörtnagel, et al.
Indian Journal of Pediatrics|April 6, 2017
Pantothenate kinase associated neurodegeneration (Hallervorden - Spatz syndrome)Seema Kapoor, Konstanze Hörtnagel, Siddhartha Gogia, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2006
Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegenerationMartin Krause, Wolfgang Fogel, Volker Tronnier, et al.
Frontiers in Neurology|June 12, 2018
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous MalformationChristian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, et al.
Neuropediatrics|June 26, 2015
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEGCelina von Stülpnagel, Claudia Funke, Caroline Haberl, et al.
Neuroscience Letters|April 22, 2005
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson diseaseThomas Klopstock, Matthias Elstner, Christoph B Lücking, et al.
Molecular Biology Reports|July 5, 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like diseaseMarta Owczarek-Lipska, Lejla Mulahasanovic, Carolin D Obermaier, et al.
Journal of Neurology|December 21, 2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatmentClaudia B Catarino, Christian Vollmar, Clemens Küpper, et al.
Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Human Molecular Genetics|January 30, 2003
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaKonstanze Hörtnagel, Holger Prokisch, Thomas Meitinger
Dermatology (Basel, Switzerland)|July 12, 2014
Monogenic human skin disordersJohannes R Lemke, Kristin Kernland-Lang, Konstanze Hörtnagel, et al.
Indian Journal of Pediatrics|April 6, 2017
Pantothenate kinase associated neurodegeneration (Hallervorden - Spatz syndrome)Seema Kapoor, Konstanze Hörtnagel, Siddhartha Gogia, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2006
Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegenerationMartin Krause, Wolfgang Fogel, Volker Tronnier, et al.
Frontiers in Neurology|June 12, 2018
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous MalformationChristian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, et al.
Neuropediatrics|June 26, 2015
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEGCelina von Stülpnagel, Claudia Funke, Caroline Haberl, et al.
Neuroscience Letters|April 22, 2005
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson diseaseThomas Klopstock, Matthias Elstner, Christoph B Lücking, et al.
Molecular Biology Reports|July 5, 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like diseaseMarta Owczarek-Lipska, Lejla Mulahasanovic, Carolin D Obermaier, et al.
Journal of Neurology|December 21, 2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatmentClaudia B Catarino, Christian Vollmar, Clemens Küpper, et al.
Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Pageof 3