Search Results - "Cintas, Pascal"

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.

Authors: Le Bras, Alicia De Lonlay, Pascale Attarian, Shahram et al.

Source: Orphanet Journal of Rare Diseases. 10/31/2025, Vol. 20 Issue 1, p1-9. 9p.

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Authors: Sanson, Benoît Slioui, Abderhmane Garcia, Jérémy et al.

Source: Orphanet Journal of Rare Diseases. 9/2/2025, Vol. 20 Issue 1, p1-12. 12p.

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

Authors: Sanson, Benoît Stalens, Caroline Guien, Céline et al.

Source: Orphanet Journal of Rare Diseases. 3/2/2022, Vol. 17 Issue 1, p1-12. 12p.

Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study.

Authors: Péréon, Yann Adams, David Camdessanché, Jean-Philippe et al.

Source: Orphanet Journal of Rare Diseases. 3/1/2025, Vol. 20 Issue 1, p1-7. 7p.

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

Authors: Fargeot, Guillaume Echaniz-Laguna, Andoni Labeyrie, Céline et al.

Source: Amyloid. Mar2024, Vol. 31 Issue 1, p62-69. 8p.

A Cardio-Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy.

Authors: DUPARC, ALEXANDRE CINTAS, PASCAL SOMODY, ELISABETH et al.

Source: Pacing & Clinical Electrophysiology. Mar2009, Vol. 32 Issue 3, p410-415.

Comparison between a novel helical and a posterior ankle–foot orthosis on gait in people with unilateral foot drop: a randomised crossover trial.

Authors: Gasq, David Dumas, Raphaël Caussé, Benoit et al.

Source: Journal of NeuroEngineering & Rehabilitation (JNER). 5/11/2023, Vol. 20 Issue 1, p1-13. 13p.

Hepatitis E Virus and Neurologic Disorders.

Authors: Kamar, Nassim Bendall, Richard P. Peron, Jean Marie et al.

Source: Emerging Infectious Diseases. Feb2011, Vol. 17 Issue 2, p173-179. 7p. 2 Charts.

Atrial fibrillation and subtype of atrial fibrillation in cardiac amyloidosis: clinical and echocardiographic features, impact on mortality.

Authors: Sanchis, Kevin Cariou, Eve Colombat, Magali et al.

Source: Amyloid. Sep2019, Vol. 26 Issue 3, p128-138. 11p.

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form.

Authors: Miressi, Federica Magdelaine, Corinne Cintas, Pascal et al.

Source: Brain Sciences (2076-3425). Dec2020, Vol. 10 Issue 12, p986. 1p.

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Authors: Salort-Campana, Emmanuelle Fatehi, Farzad Beloribi-Djefaflia, Sadia et al.

Source: International Journal of Molecular Sciences. Mar2020, Vol. 21 Issue 6, p2221. 1p.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Authors: Lerat, Justine Magdelaine, Corinne Roux, Anne‐Françoise et al.

Source: Molecular Genetics & Genomic Medicine. Sep2019, Vol. 7 Issue 9, pN.PAG-N.PAG. 1p.

Transfusion-acquired hepatitis E infection misdiagnosed as severe critical illness polyneuromyopathy in a heart transplant patient.

Authors: Belliere, Julie Abravanel, Florence Nogier, Marie Béatrice et al.

Source: Transplant Infectious Disease. Dec2017, Vol. 19 Issue 6, pn/a-N.PAG. 5p.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Authors: Dogan, Celine De Antonio, Marie Hamroun, Dalil et al.

Source: PLoS ONE. 2/5/2016, Vol. 11 Issue 2, p1-12. 12p.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.

Authors: De Antonio, Marie Dogan, Céline Daidj, Ferroudja et al.

Source: Orphanet Journal of Rare Diseases. 6/3/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Authors: Nadjar, Yann Hütter-Moncada, Ana Lucia Latour, Philippe et al.

Source: Orphanet Journal of Rare Diseases. 10/1/2018, Vol. 13 Issue 1, pN.PAG-N.PAG. 1p.

Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026.

Source: Journal of neuromuscular diseases 2026 Supplement 2; Vol. 13.

Journal Info: Publisher: Sage Publications Inc. ISSN: 2214-3599