Ilse Kern
Geneve, GE 1205, Switzerland
Last Updated: 09/26/2026
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Found 23 publications
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Fatal cervical myelopathy in a child with glutaric aciduria type 1.
Journal: Journal of inherited metabolic disease
Published: October 12, 2023
Inborn errors of metabolism: a specialty at the forefront of precision medicine
Journal: Revue medicale suisse
Published: February 23, 2023
Plasma biomarkers for Alzheimer's disease: a field-test in a memory clinic.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: October 25, 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Journal: European journal of neurology
Published: March 09, 2022
Changes of lipoprotein(a) levels with endogenous steroid hormones.
Journal: European journal of clinical investigation
Published: June 22, 2021
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Journal: Human molecular genetics
Published: November 08, 2019
Prognostic value of elevated lipoprotein(a) in patients with acute coronary syndromes.
Journal: European journal of clinical investigation
Published: January 07, 2019
Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders.
Journal: Journal of Alzheimer's disease : JAD
Published: May 31, 2018
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Journal: Neuropediatrics
Published: December 29, 2017
Last Updated: 09/26/2026