List of works - Karin Tuschl

Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.

scientific article published on 27 July 2012

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

Direct Comparison of Manganese Detoxification/Efflux Proteins and Molecular Characterization of ZnT10 Protein as a Manganese Transporter.

scientific article published on 10 May 2016

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder

scientific article

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

scholarly article published 9 February 2017

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.

scientific article

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry

scientific article published on 22 June 2006

Inherited manganism: the "cock-walk" gait and typical neuroimaging features

scientific article published on 04 April 2014

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish

scientific article published in June 2022

Manganese and the brain

scientific article

Mucopolysaccharidosis type II in females: case report and review of literature.

scientific article

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

scientific article published on 6 April 2018

Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.

scientific article published on 16 April 2013

SLC39A14 Deficiency

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients

scientific article

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

scientific article published on August 2016

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

scientific article

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome

scientific article published on 01 September 2007

List of works by Karin Tuschl

Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.

Cholestenoic acids regulate motor neuron survival via liver X receptors

Direct Comparison of Manganese Detoxification/Efflux Proteins and Molecular Characterization of ZnT10 Protein as a Manganese Transporter.

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry

Inherited manganism: the "cock-walk" gait and typical neuroimaging features

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish

Manganese and the brain

Mucopolysaccharidosis type II in females: case report and review of literature.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.

SLC39A14 Deficiency

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome