Lena Noel-Guillot
Paris, 75013, France
Last Updated: 09/26/2026
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Found 25 publications
Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.
Journal: Brain : a journal of neurology
Published: June 02, 2025
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: October 28, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Journal: Human genetics
Published: July 17, 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Journal: EBioMedicine
Published: October 02, 2023
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Journal: Nature medicine
Published: May 01, 2023
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Journal: Journal of medical genetics
Published: September 07, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Journal: Annals of neurology
Published: November 07, 2021
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 29, 2021
Last Updated: 09/26/2026