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Guidelines on clinical presentation and management of nondystrophic myotonias

Muscle & nerve, 2020-10, Vol.62 (4), p.430-444

2020

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Electromyography guides toward subgroups of mutations in muscle channelopathies

Annals of neurology, 2004-11, Vol.56 (5), p.650-661

2004

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A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-450, Article 450

2021

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Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Pediatric neurology, 2023-08, Vol.145, p.102-111

2023

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Urgences dans les paralysies périodiques

Anesthésie & Réanimation, 2015-09, Vol.1 (5), p.S29-S35

Vicart, Savine

2015

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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

Journal of neuromuscular diseases, 2021-01, Vol.8 (3), p.357-381

2021

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Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

European journal of neurology, 2023-08, Vol.30 (8), p.2506-2517

2023

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Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study

Neuromuscular disorders : NMD, 2021-11, Vol.31 (11), p.1124-1135

2021

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Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey

Revue neurologique, 2024-05

2024

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Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation

Muscle & nerve, 2020-04, Vol.61 (4), p.491-495

2020

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Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

European journal of neurology, 2023-08, Vol.30 (8), p.2506-2517

2023

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Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Scientific reports, 2018-02, Vol.8 (1), p.1-13, Article 2041

2018

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Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy

Archives of cardiovascular diseases, 2024-06, Vol.117 (6-7), p.450-456

2024

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Early radiological features of severe longitudinally extensive transverse myelitis over time

Journal of the neurological sciences, 2019-05, Vol.400, p.7-9

2019

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A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Scientific reports, 2018-11, Vol.8 (1), p.1-10, Article 16681

2018

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Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

European journal of neurology, 2022-08, Vol.29 (8), p.2398-2411

2022

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Biophysical Characterization of Two NaV1.4 Mutations Making a Clinical Overlap between the Myotonia-Hyperkalemic and Hypokalemic Periodic Paralysis Clusters of Disorders

Biophysical journal, 2018-02, Vol.114 (3), p.632a-632a

2018

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Hypokalemic Periodic Paralysis Cases with Substitutions from Arginine to Lysine in the Voltage Sensor

Biophysical journal, 2018-02, Vol.114 (3), p.636a-636a

2018

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Biophysical Characterization of Two Nav1.4 Mutations Identified in Patients with Cold-Induced Myotonia and Periodic Paralysis

Biophysical journal, 2016-02, Vol.110 (3), p.438a-438a

2016

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Perturbed Microbiota/Immune Homeostasis in Multiple Sclerosis

Neurology : neuroimmunology & neuroinflammation, 2021-07, Vol.8 (4)

2021

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Multiple cervical dissections after Rituximab

Multiple sclerosis and related disorders, 2020-07, Vol.42, p.102105, Article 102105

2020

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Lésions dangeureuses ?

Revue neurologique, 2017-03, Vol.173, p.S123-S123

2017

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Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

Brain communications, 2020-01, Vol.2 (2), p.fcaa103-fcaa103

2020

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A204E mutation in Na v 1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Scientific reports, 2018-11, Vol.8 (1), p.16681

2018

Volltextzugriff (PDF)

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Guidelines on clinical presentation and management of nondystrophic myotonias

Electromyography guides toward subgroups of mutations in muscle channelopathies

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Urgences dans les paralysies périodiques

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study

Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey

Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy

Early radiological features of severe longitudinally extensive transverse myelitis over time

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

Biophysical Characterization of Two NaV1.4 Mutations Making a Clinical Overlap between the Myotonia-Hyperkalemic and Hypokalemic Periodic Paralysis Clusters of Disorders

Hypokalemic Periodic Paralysis Cases with Substitutions from Arginine to Lysine in the Voltage Sensor

Biophysical Characterization of Two Nav1.4 Mutations Identified in Patients with Cold-Induced Myotonia and Periodic Paralysis

Perturbed Microbiota/Immune Homeostasis in Multiple Sclerosis

Multiple cervical dissections after Rituximab

Lésions dangeureuses ?

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

A204E mutation in Na v 1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

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