Corina Heller
Tuebingen, BW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.
Journal: Human genetics
Published: February 10, 2026
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Journal: European journal of human genetics : EJHG
Published: November 18, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Journal: Brain : a journal of neurology
Published: August 29, 2022
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Journal: Neurological research and practice
Published: November 10, 2021
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Journal: Brain : a journal of neurology
Published: November 22, 2019
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
Journal: Neuromuscular disorders : NMD
Published: July 06, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Journal: Journal of neurochemistry
Published: May 07, 2017
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Journal: Neuropediatrics
Published: April 16, 2017
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Journal: Acta ophthalmologica
Published: February 24, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026