Lucie Marechal-Guyant

Rouen, France

Last Updated: 09/26/2026

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Found 39 publications

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Journal: Journal of neuromuscular diseases
Published: October 21, 2025

Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort.

Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort.

Journal: Revue neurologique
Published: March 12, 2025

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Journal: European journal of neurology
Published: March 10, 2025

Identification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.

Identification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.

Journal: European journal of anaesthesiology
Published: February 14, 2025

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Journal: EBioMedicine
Published: October 02, 2023

Development of an Objective Structured Clinical Examination (OSCE) to evaluate the diagnosis announcement of chronic neurological disease by residents in neurology.

Development of an Objective Structured Clinical Examination (OSCE) to evaluate the diagnosis announcement of chronic neurological disease by residents in neurology.

Journal: Revue neurologique
Published: June 26, 2023

Titin copy number variations associated with dominant inherited phenotypes.

Titin copy number variations associated with dominant inherited phenotypes.

Journal: Journal of medical genetics
Published: June 22, 2023

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Journal: Journal of the peripheral nervous system : JPNS
Published: May 03, 2023

CANVAS, a sensory neuronopathy to look for in ataxia.

CANVAS, a sensory neuronopathy to look for in ataxia.

Journal: Revue neurologique
Published: September 20, 2022

Phenotype and imaging features associated with APP duplications.

Phenotype and imaging features associated with APP duplications.

Journal: Alzheimer's research & therapy
Published: August 19, 2022

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

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

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 28, 2022
Showing 1-12 of 39

Last Updated: 09/26/2026