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PERCUTANEOUS TRACHEOTOMY IN ICU: OUR EXPERIENCE IN 2020-2021 (COVID-19 PANDEMIC)

Journal of cardiothoracic and vascular anesthesia, 2022-12, Vol.36, p.S43

2022

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Celiprolol to prevent arterial events in patients with vascular Ehlers-Danlos and neither symptomatic nor silent arterial event. A retrospective cohort study from the French national reference center

European heart journal, 2022-10, Vol.43 (Supplement_2)

2022

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YouTube as an information source on BRCA mutations: implications for patients and professionals

Journal of community genetics, 2022-04, Vol.13 (2), p.257-262

2022

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Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

European journal of neurology, 2017-02, Vol.24 (2), p.255-261

2017

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Acta neuropathologica, 2017-12, Vol.134 (6), p.889-904

2017

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The new horizons for treatment of Late-Onset Pompe Disease (LOPD)

Revue neurologique, 2023-01, Vol.179 (1-2), p.81-89

2023

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Médecine en milieu isolé. Application aux Terres australes et antarctiques françaises

Journal européen des urgences et de réanimation, 2023-05, Vol.35 (1), p.6-12

2023

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Toward a Multiscale Model of the Uterine Electrical Activity

IEEE transactions on biomedical engineering, 2011-12, Vol.58 (12), p.3487-3490

2011

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Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study

Revue neurologique, 2022-03, Vol.178 (3), p.234-240

2022

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Elevated TNF-α Leads to Neural Circuit Instability in the Absence of Interferon Regulatory Factor 8

The Journal of neuroscience, 2022-08, Vol.42 (32), p.6171-6185

2022

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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Journal of neurology, neurosurgery and psychiatry, 2015-12, Vol.86 (12), p.1337-1346

2015

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High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation

Neurology, 2013-01, Vol.80 (1), p.100-105

2013

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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Acta neurologica Scandinavica, 2018-05, Vol.137 (5), p.452-461

2018

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P351 Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S183-S183

2023

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Epinephrine versus norepinephrine in cardiac arrest patients with post-resuscitation shock

Intensive care medicine, 2022-03, Vol.48 (3), p.300-310

2022

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Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

Neurology, 2010-02, Vol.74 (8), p.674-677

2010

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Computational proteome-wide screening predicts neurotoxic drug-protein interactome for the investigational analgesic BIA 10-2474

Biochemical and biophysical research communications, 2017-01, Vol.483 (1), p.502-508

2017

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Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Neurology, 2008-05, Vol.70 (22), p.2063-2066

2008

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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Journal of neurology, 2019-12, Vol.266 (12), p.2987-2996

2019

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Differential Effect of Targeted Temperature Management Between 32 °C and 36 °C Following Cardiac Arrest According to Initial Severity of Illness: Insights From Two International Data Sets

Chest, 2023-05, Vol.163 (5), p.1120-1129

2023

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Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1405-1408

2009

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Skin and Wound Map From 23,453 Nursing Home Resident Records: Relative Prevalence Study

JMIR dermatology, 2018-10, Vol.1 (2), p.e11875

2018

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Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum

Neurology, 2012-02, Vol.78 (9), p.644-648

2012

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Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Neurology, 2012-01, Vol.78 (4), p.265-268

2012

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OTHER NMDs

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S156

2021

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PERCUTANEOUS TRACHEOTOMY IN ICU: OUR EXPERIENCE IN 2020-2021 (COVID-19 PANDEMIC)

Celiprolol to prevent arterial events in patients with vascular Ehlers-Danlos and neither symptomatic nor silent arterial event. A retrospective cohort study from the French national reference center

YouTube as an information source on BRCA mutations: implications for patients and professionals

Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

The new horizons for treatment of Late-Onset Pompe Disease (LOPD)

Médecine en milieu isolé. Application aux Terres australes et antarctiques françaises

Toward a Multiscale Model of the Uterine Electrical Activity

Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study

Elevated TNF-α Leads to Neural Circuit Instability in the Absence of Interferon Regulatory Factor 8

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

P351 Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort

Epinephrine versus norepinephrine in cardiac arrest patients with post-resuscitation shock

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

Computational proteome-wide screening predicts neurotoxic drug-protein interactome for the investigational analgesic BIA 10-2474

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Differential Effect of Targeted Temperature Management Between 32 °C and 36 °C Following Cardiac Arrest According to Initial Severity of Illness: Insights From Two International Data Sets

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

Skin and Wound Map From 23,453 Nursing Home Resident Records: Relative Prevalence Study

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

OTHER NMDs

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