Janet Hoenicka
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 50 publications
p.Ile87Val is a novel conservative DCTN1 variant causing Perry syndrome.
Journal: Parkinsonism & related disorders
Published: January 28, 2026
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
Journal: Biomolecules
Published: January 06, 2026
Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.
Journal: Archives of medical research
Published: December 04, 2025
Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: September 26, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Journal: International journal of molecular sciences
Published: August 27, 2025
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
Journal: The Journal of clinical investigation
Published: July 29, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Journal: Annals of neurology
Published: April 01, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Journal: Brain communications
Published: January 13, 2025
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Journal: European journal of human genetics : EJHG
Published: December 10, 2024
A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.
Journal: NPJ Parkinson's disease
Published: November 06, 2024
Last Updated: 09/26/2026