Pascal Cintas

Université de Toulouse — France

Medicine · Health Sciences

28h-index3.6kcitations192works2.72yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(38), Amyotrophic Lateral Sclerosis Research(25), Muscle Physiology and Disorders(19), Peripheral Neuropathies and Disorders(19), Hereditary Neurological Disorders(19)

Publications191 total

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
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
JAMA Network Open·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
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
356PReal-life effectiveness after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: a French cohort study
Neuromuscular Disorders·2025
606PReal-world experience with nusinersen in adults with 5q spinal muscular atrophy: the French SMA registry
Neuromuscular Disorders·2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy
European Journal of Neurology·2025· 1 citedOpen Access
Zilucoplan as a fast-acting treatment for severe myasthenic exacerbation: A case series
Revue Neurologique·2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France
Journal of Neuromuscular Diseases·2025· 3 citedOpen Access
Unmasking Anti‐<scp>CASPR2</scp> Syndrome in a Patient Treated for Myasthenia Gravis in the Era of New Treatments
European Journal of Neurology·2025· 2 citedOpen Access
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
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population
Neurology Genetics·2025· 4 citedOpen Access
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
Orphanet Journal of Rare Diseases·2025· 4 citedOpen Access
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
European Journal of Human Genetics·2024· 3 citedOpen Access
Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study
European Journal of Neurology·2024· 4 citedOpen Access
190P Spectrum of phenotypes in SMA patients with four SMN2 copies in France (Registre SMA France)
Neuromuscular Disorders·2024
187P French HCPs approach to evaluating SMA adult patients with severe disabilities: a qualitative study
Neuromuscular Disorders·2024Open Access
152P Perceived effects of treatments by SMA adult patients: a French qualitative study
Neuromuscular Disorders·2024Open Access
Prevalence, clinical significance and prognosis value of liver stiffness measurement anomalies in transthyretin cardiac amyloidosis
International Journal of Cardiology·2024· 5 citedOpen Access
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Frequent Co-authors

Guilhem Solé(9), Nassim Kamar(8), Jacques Izopet(8), Yann Péréon(8), Emmanuelle Salort‐Campana(8), Pascal Laforêt(7), Armelle Magot(7), Claude Desnuelle(7), Shahram Attarian(7), Aleksandra Nadaj‐Pakleza(6), Céline Tard(6), Florence Abravanel(6), Tanya Stojkovic(5), Anthony Béhin(5), Philippe Maury(5), Éric Bieth(5), Isabelle Desguerre(5), Xavier Ferrer(5), V. Tiffreau(5), Jean‐Philippe Camdessanché(5)