Anne-laure Amsellem-Fauret
Paris, 75013, France
Last Updated: 09/26/2026
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Found 19 publications
Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.
Journal: Acta neuropathologica
Published: May 11, 2026
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Journal: Brain : a journal of neurology
Published: July 02, 2025
Correction: Respiratory failure as main presentation sign of MAPT-related disorder.
Journal: Journal of neurology
Published: April 11, 2025
MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.
Journal: Journal of neurology
Published: November 04, 2024
Respiratory failure as main presentation sign of MAPT-related disorder.
Journal: Journal of neurology
Published: September 30, 2024
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Journal: Brain : a journal of neurology
Published: February 16, 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Journal: EBioMedicine
Published: October 02, 2023
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Journal: Movement disorders clinical practice
Published: December 13, 2022
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Journal: Journal of medical genetics
Published: September 07, 2022
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Journal: Frontiers in endocrinology
Published: October 26, 2021
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: December 23, 2020
Last Updated: 09/26/2026