Typhaine Esteves
Paris, France
Last Updated: 09/26/2026
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Found 8 publications
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 06, 2022
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Journal: Frontiers in neurology
Published: June 07, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Journal: Annals of human genetics
Published: March 03, 2021
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Journal: Neurobiology of disease
Published: October 26, 2016
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Journal: Human molecular genetics
Published: April 09, 2015
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Journal: American journal of human genetics
Published: November 11, 2013
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Journal: American journal of human genetics
Published: June 28, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026