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The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

International journal of molecular sciences, 2024-04, Vol.25 (8), p.4364

2024

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Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Neurobiology of disease, 2024-09, Vol.199, p.106603, Article 106603

2024

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Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Frontiers in neuroscience, 2020-04, Vol.14, p.316-316

2020

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Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study

Frontiers in neurology, 2020-05, Vol.11, p.363-363

2020

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Thérapie génique dans la SLA

Revue neurologique, 2022-04, Vol.178, p.S158-S158

2022

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Nouveaux essais en neuroprotection dans la sclérose latérale amyotrophique

Revue neurologique, 2022-04, Vol.178, p.S150-S151

2022

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Serum neurofilament light chain cut‐off definition for clinical diagnosis and prognosis of amyotrophic lateral sclerosis

European journal of neurology, 2023-07, Vol.30 (7), p.1919-1927

2023

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Analyse de la morbidité de la SLA : que nous apprend le PMSI national ?

Revue neurologique, 2024-04, Vol.180, p.S106-S106

2024

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Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2021-10, Vol.22 (7-8), p.505-507

2021

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The IHexokinase 1/I 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

International journal of molecular sciences, 2024-04, Vol.25 (8)

2024

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Reversible sub-acute motor neuron syndrome after mushroom intoxication masquerading as amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-10, Vol.23 (7-8), p.496-499

2022

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Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-07, Vol.23 (5-6), p.458-461

2022

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Repeated neurofilament light chain measurements did not capture Riluzole therapeutic effect in amyotrophic lateral sclerosis patients

CNS neuroscience & therapeutics, 2022-10, Vol.28 (10), p.1532-1538

2022

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Caractéristiques de la population SLA hospitalisée en 2019 : une étude basée sur le PMSI national

Revue neurologique, 2023-04, Vol.179, p.S141-S142

2023

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Spatio-temporal clustering of amyotrophic lateral sclerosis in France: A population-based study

European journal of epidemiology, 2022-11, Vol.37 (11), p.1181-1193

2022

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Nature communications, 2022-11, Vol.13 (1), p.6901-9, Article 6901

2022

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Brain (London, England : 1878), 2024-05

2024

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Ultrasensitive digital immunoassays for SOD1 conformation in amyotrophic lateral sclerosis

Bioanalysis, 2023-08, Vol.15 (15), p.927-936

2023

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Immune‐mediated diseases involving central and peripheral nervous systems

European journal of neurology, 2023-02, Vol.30 (2), p.490-500

2023

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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Nature communications, 2024-07, Vol.15 (1), p.5560-2, Article 5560

2024

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HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Clinical genetics, 2022-11, Vol.102 (5), p.379-390

2022

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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.96-96, Article 96

2022

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A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid : the statistical analysis plan of TUDCA-ALS trial

Trials, 2023-12, Vol.24 (1)

2023

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The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study

Thérapie génique dans la SLA

Nouveaux essais en neuroprotection dans la sclérose latérale amyotrophique

Serum neurofilament light chain cut‐off definition for clinical diagnosis and prognosis of amyotrophic lateral sclerosis

Analyse de la morbidité de la SLA : que nous apprend le PMSI national ?

Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France

The IHexokinase 1/I 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

Reversible sub-acute motor neuron syndrome after mushroom intoxication masquerading as amyotrophic lateral sclerosis

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case

Repeated neurofilament light chain measurements did not capture Riluzole therapeutic effect in amyotrophic lateral sclerosis patients

Caractéristiques de la population SLA hospitalisée en 2019 : une étude basée sur le PMSI national

Spatio-temporal clustering of amyotrophic lateral sclerosis in France: A population-based study

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Ultrasensitive digital immunoassays for SOD1 conformation in amyotrophic lateral sclerosis

Immune‐mediated diseases involving central and peripheral nervous systems

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid : the statistical analysis plan of TUDCA-ALS trial

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