Get started
Author

Anne‐Sophie Lia

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice
1997 · Geneviève Gourdon, François Radvanyi, et al. · Nature Genetics · 137
Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
2015 · Stéphane Mathis, Cyril Goizet, et al. · Journal of Medical Genetics · 115
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
1998 · A. Lia, H Seznec, et al. · Human Molecular Genetics · 89
Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma
2019 · Anne Guyot, Mathilde Duchesne, et al. · Journal of Neuro-Oncology · 71
Repeat Expansions of RFC1 in Refractory Chronic Cough
2022 · Laurent Guilleminault, Pauline Chazelas, et al. · CHEST Journal · 38
PDF
Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System
2019 · Pierre Antoine Faye, François Poumeaud, et al. · Frontiers in Neuroscience · 38
PDF
Focus on cell therapy to treat corneal endothelial diseases
2021 · Pierre Antoine Faye, François Poumeaud, et al. · Experimental Eye Research · 36
PDF
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
2020 · Paco Derouault, Jasmine Chauzeix, et al. · PLoS Computational Biology · 29
PDF
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
2017 · Justine Lerat, Pascal Cintas, et al. · Journal of the Peripheral Nervous System · 28
Intriguing association between disease associated unstable trinucleotide repeat and CpG island.
1997 · G Gourdon, P Dessen, et al. · PubMed · 27
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons
2021 · Federica Miressi, Nesrine Benslimane, et al. · Biomedicines · 25
PDF
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment
2022 · Laurent Magy, Pauline Chazelas, et al. · Biomedicines · 22
PDF
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
2019 · Justine Lerat, Corinne Magdelaine, et al. · Molecular Genetics & Genomic Medicine · 22
PDF
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons
2024 · Nesrine Benslimane, Camille Loret, et al. · Pharmaceuticals · 21
PDF
New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation
2016 · Pierre-Antoine Faye, Nicolas Vedrenne, et al. · Analytical Chemistry · 21
‘COV’COP’ allows to detect CNVs responsible for inherited diseases among amplicons sequencing data
2017 · P Derouault, B Parfait, et al. · Bioinformatics · 20
PDF
HINT1 neuropathy: Expanding the genotype and phenotype spectrum
2022 · Victor Morel, Emmanuelle Campana‐Salort, et al. · Clinical Genetics · 19
PDF
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
2022 · Thibaut Benquey, Emmanuelle Pion, et al. · Genes · 19
PDF
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients
2020 · Pierre-Antoine Faye, Nicolas Vedrenne, et al. · Brain Sciences · 18
PDF
Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP
2019 · Maxime Jouaud, Stéphane Mathis, et al. · Journal of the Neurological Sciences · 18
PDF
A mutation can hide another one: Think Structural Variants!
2020 · Federica Miressi, Pierre-Antoine Faye, et al. · Computational and Structural Biotechnology Journal · 17
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies
2019 · Solenne Correard, Jocelyn Plassais, et al. · Human Genetics · 17
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
2019 · Justine Lerat, Corinne Magdelaine, et al. · Journal of the Peripheral Nervous System · 17
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
2020 · Sarah Mafi, Cécile Laroche-Raynaud, et al. · Brain Sciences · 16
PDF
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype
2024 · Laurent Guilleminault, Stuart B. Mazzone, et al. · ERJ Open Research · 15
PDF
Works count: 58
Citation count: 1,046
H-index: 18
I10-index: 33
Year
Topic
Type