Natalia Ferreira-Mendoza
Koeln, NW 50931, Germany
Last Updated: 09/26/2026
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Found 10 publications
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Journal: Nucleic acids research
Published: June 29, 2022
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Journal: American journal of human genetics
Published: May 29, 2020
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Journal: Neuromuscular disorders : NMD
Published: February 18, 2020
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Journal: Annual review of genomics and human genetics
Published: February 01, 2020
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Journal: Frontiers in neuroscience
Published: June 06, 2019
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.
Journal: Frontiers in molecular neuroscience
Published: August 14, 2018
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Journal: Human molecular genetics
Published: June 22, 2018
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
Journal: Brain : a journal of neurology
Published: November 18, 2017
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Journal: Neurology. Genetics
Published: August 11, 2017
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Journal: American journal of human genetics
Published: June 24, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026