Search Results - "Cintas, Pascal"

Multiple Mononeuropathy Secondary to Parvovirus B19 Infection: A Case Series.

Authors: Theuriet, Julian Michaud, Maud Fargeot, Guillaume et al.

Source: European Journal of Neurology. Mar2026, Vol. 33 Issue 3, p1-8. 8p.

Subjects: Parvovirus B19, Neurologic manifestations of general diseases, Clinical immunology, Nervous system injuries, Peripheral nerve tumors, Prognosis, Sensory disorders, Immunoregulation

Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study.

Authors: Chitimus, Diana Maria Tard, Céline Fournier, Maxime et al.

Source: European Journal of Neurology. Oct2025, Vol. 32 Issue 10, p1-11. 11p.

Subjects: Mortality, Causes of death, Glycogen storage disease type II, Retrospective studies, Respiratory insufficiency, Medical registry personnel, Comorbidity, Carcinoma

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral Neuropathy.

Authors: Jaubert, Pauline Loret, Camille Stojkovic, Tanya et al.

Source: European Journal of Neurology. Aug2025, Vol. 32 Issue 8, p1-12. 12p.

Subjects: Charcot-Marie-Tooth disease, Genetic mutation, Genes, Electrophysiology, Phenotypes, Genetic variation, Symptoms, Demyelination

Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study.

Authors: Barbat du Closel, Luce Bonello‐Palot, Nathalie Delmont, Emilien et al.

Source: European Journal of Neurology. Jan2025, Vol. 32 Issue 1, p1-11. 11p.

Subjects: Charcot-Marie-Tooth disease, Genetic variation, Neural conduction, Neuropathy, Clinical trials, Diagnosis, Linkage (Genetics)

Geographic Terms: France

Unmasking Anti‐CASPR2 Syndrome in a Patient Treated for Myasthenia Gravis in the Era of New Treatments.

Authors: Fabry, Vincent Rual, Celso Bost, Chloé et al.

Source: European Journal of Neurology. Jul2025, Vol. 32 Issue 7, p1-3. 3p.

Subjects: Myasthenia gravis, Thymoma, Monoclonal antibodies, Immunomodulators, Isaacs syndrome, Immunoregulation, Autoimmune diseases

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

Authors: Retailleau, Emilie Lefeuvre, Claire De Antonio, Marie et al.

Source: European Journal of Neurology. Oct2024, Vol. 31 Issue 10, p1-11. 11p.

Subjects: Percutaneous endoscopic gastrostomy, Speech therapists, Neuromuscular diseases, Body mass index, Medical registries, Glycogen storage disease type II, Aspiration pneumonia

Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Authors: Tard, Céline Bouhour, Françoise Michaud, Maud et al.

Source: European Journal of Neurology. Jul2024, Vol. 31 Issue 7, p1-8. 8p.

Subjects: Enzyme replacement therapy, Cohort analysis, Vital capacity (Respiration), Glycogen storage disease type II

Geographic Terms: France

Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.

Authors: Barbat du Closel, Luce Bonello‐Palot, Nathalie Péréon, Yann et al.

Source: European Journal of Neurology. Oct2023, Vol. 30 Issue 10, p3265-3276. 12p.

Subjects: Charcot-Marie-Tooth disease, Neural conduction, Electrophysiology, Symptoms, Test scoring

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Authors: Lerat, Justine Cintas, Pascal Beauvais‐Dzugan, Hélène et al.

Source: Journal of the Peripheral Nervous System. Jun2017, Vol. 22 Issue 2, p77-84. 8p.

Anti‐disialosyl‐immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.

Authors: Peillet, Claire Adams, David Attarian, Shahram et al.

Source: European Journal of Neurology. Dec2022, Vol. 29 Issue 12, p3547-3555. 9p.

Subjects: Immunoglobulin M, Chronic inflammatory demyelinating polyradiculoneuropathy, Cerebrospinal fluid, Muscle weakness, Meningeal cancer, Polyneuropathies

Geographic Terms: Switzerland, France

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

Authors: Villar‐Quiles, Rocio Nur Sternberg, Damien Tredez, Grégoire et al.

Source: European Journal of Neurology. Aug2022, Vol. 29 Issue 8, p2398-2411. 14p.

Subjects: Arrhythmia, Delayed diagnosis, Myocardial depressants, Missense mutation, Skeletal muscle, Cluster headache

Geographic Terms: France

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. 6p. 1 Diagram, 3 Graphs.

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Authors: Alary, Benedicte Cintas, Pascal Claude, Corentin et al.

Source: Clinical Immunology. Aug2024, Vol. 265, pN.PAG-N.PAG. 1p.

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.

Bent spine syndrome (camptocormia): A retrospective study of 63 patients

Authors: Laroche, Michel Cintas, Pascal

Source: Joint Bone Spine. Dec2010, Vol. 77 Issue 6, p593-596. 4p.

Camptocormies ou cormoptoses réductibles : étude rétrospective sur une série de 63 malades

Authors: Laroche, Michel Cintas, Pascal

Source: Revue du Rhumatisme. Dec2010, Vol. 77 Issue 6, p621-624. 4p.

Whole-body muscle MRI improves diagnostic certainty in amyotrophic lateral sclerosis.

Authors: Fabry, Vincent Faruch-Bilfeld, Marie El Khalfi, Rokia et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Jun2026, p1-9. 9p. 2 Illustrations.

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.

Aortic valve calcium score from computed tomography for signal localization by cardiac amyloid radionuclide imaging to predict aortic stenosis and assess prognosis in patients with transthyretin cardiomyopathy.

Authors: Bonnans, Guillaume Blanc, Philippe Cariou, Eve et al.

Source: European Journal of Nuclear Medicine & Molecular Imaging. Apr2026, Vol. 53 Issue 5, p3351-3363. 13p.