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Katja Lohmann

Showing results (71-80 of 267) with videos related to

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Neurobiology of Aging|July 9, 2013
Mortalin mutations are not a frequent cause of early-onset Parkinson diseaseKaren Freimann, Katja Zschiedrich, Norbert Brüggemann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 10, 2016
Launching the movement disorders society genetic mutation database (MDSGene)Christina M Lill, Andriy Mashychev, Corinna Hartmann, et al.
Psychopharmacology|November 13, 2010
Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibilityMeike Kasten, Norbert Brüggemann, Inke R König, et al.
Journal of Human Genetics|June 15, 2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delayJoanne Trinh, Irina Hüning, Zafer Yüksel, et al.
Journal of Neurology|April 1, 2015
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystoniaEsther Nibbeling, Susen Schaake, Marina A Tijssen, et al.
Annals of Neurology|December 11, 2020
Truncating VPS16 Mutations Are Rare in Early Onset DystoniaHendrik Pott, Norbert Brüggemann, Rene Reese, et al.
Journal of Neurodevelopmental Disorders|June 27, 2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disordersJoanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Journal of Molecular Neuroscience : MN|March 17, 2017
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations ThereinAlev Richter, Ronja Hollstein, Eva Hebert, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 16, 2009
Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)Irene Pichler, Fabio Marroni, Cristian Pattaro, et al.
Pageof 27

Showing results (71-80 of 267) with videos related to

Sort By:
Pageof 27
Neurobiology of Aging|July 9, 2013
Mortalin mutations are not a frequent cause of early-onset Parkinson diseaseKaren Freimann, Katja Zschiedrich, Norbert Brüggemann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 10, 2016
Launching the movement disorders society genetic mutation database (MDSGene)Christina M Lill, Andriy Mashychev, Corinna Hartmann, et al.
Psychopharmacology|November 13, 2010
Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibilityMeike Kasten, Norbert Brüggemann, Inke R König, et al.
Journal of Human Genetics|June 15, 2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delayJoanne Trinh, Irina Hüning, Zafer Yüksel, et al.
Journal of Neurology|April 1, 2015
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystoniaEsther Nibbeling, Susen Schaake, Marina A Tijssen, et al.
Annals of Neurology|December 11, 2020
Truncating VPS16 Mutations Are Rare in Early Onset DystoniaHendrik Pott, Norbert Brüggemann, Rene Reese, et al.
Journal of Neurodevelopmental Disorders|June 27, 2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disordersJoanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Journal of Molecular Neuroscience : MN|March 17, 2017
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations ThereinAlev Richter, Ronja Hollstein, Eva Hebert, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 16, 2009
Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)Irene Pichler, Fabio Marroni, Cristian Pattaro, et al.
Pageof 27