Pascal Laforêt

Assistance Publique – Hôpitaux de Paris — France

Medicine · Health Sciences

67h-index15.2kcitations544works2.62yr avg
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Research Topics

Glycogen Storage Diseases and Myoclonus(188), Lysosomal Storage Disorders Research(160), Muscle Physiology and Disorders(80), Mitochondrial Function and Pathology(78), Metabolism and Genetic Disorders(71)

Publications540 total

Usefulness of repeated procalcitonin measurements in the management of severe SARS-CoV-2 pneumonia
2026Open Access
Atteintes rénales dans les syndromes MELAS et apparentés : une étude de cohorte rétrospective multicentrique sur 104 patients
La Revue de Médecine Interne·2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Journal of Neuromuscular Diseases·2025Open Access
Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment
Revue Neurologique·2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Orphanet Journal of Rare Diseases·2025· 1 citedOpen Access
Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study
European Journal of Neurology·2025· 1 citedOpen Access
#1861 Kidney involvement in MELAS/MIDD syndrome: a multicentric description of 104 patients
Nephrology Dialysis Transplantation·2025
Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1
JAMA Cardiology·2025· 4 citedOpen Access
Lysosomal impairments in Pompe disease are associated with altered T cell homeostasis and intrinsic metabolic dysregulation
2025Open Access
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry
Orphanet Journal of Rare Diseases·2025Open Access
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<scp>FILNEMUS</scp>) and the French National Rare Disease Database (<scp>BNDMR</scp>)
European Journal of Neurology·2025Open Access
572PManaging Pompe disease and enzyme replacement therapy during pregnancy: challenges and considerations
Neuromuscular Disorders·2025
568PPersonalized medicine in individuals living with late onset Pompe disease (LOPD): urine glucose tetrasaccharide (Glc4) as a predictive biomarker during follow-up
Neuromuscular Disorders·2025
331PCauses of death in adult patients with late-onset Pompe disease: a French Pompe registry retrospective study
Neuromuscular Disorders·2025
Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure
Revue Neurologique·2025
Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review
Revue Neurologique·2025
Characterization and Related Factors of Postural Control in Adults With Late-Onset Pompe Disease: Cross-Sectional and Case Control Study
Physical Therapy·2025· 1 cited
The safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives
Revue Neurologique·2025
A model to predict the 6-Minute Walk Distance in Pompe disease
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Galectin-3: a novel biomarker of glycogen storage disease type III
Cell Death Discovery·2025· 1 citedOpen Access
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Frequent Co-authors

B. Eymard(19), Anthony Béhin(15), B. Eymard(7), Ans T. van der Ploeg(6), Michel Fardeau(6), Tanya Stojkovic(6), Thierry Maisonobe(6), Benedikt Schoser(6), S. Herson(5), Alan Pestronk(5), Xavier Ferrer(5), Norma B. Romero(5), Yves Allenbach(5), Norma B. Romero(5), Emmanuelle Salort‐Campana(5), Olivier Benvéniste(5), Guillaume Bassez(5), Shahram Attarian(5), Jean Pouget(5), Nicolas Lévy(5)