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  • 1-6 ل  6 نتائج ل ""Muscular Atrophy""

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Collection : Normandie Universite
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Academic Journal

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

Subjects: Gene transfer therapy; Real-world outcome; Spinal muscular atrophy

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04831727 ; Orphanet Journal of Rare Diseases, 2024, 19 (1), ⟨10.1186/s13023-024-03326-3⟩.

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Dissertation/ Thesis

Therapeutic care by innovative therapies for patients with Spinal muscular atrophy ; La prise en charge thérapeutique par les thérapies innovantes pour les patients atteints d’amyotrophie spinale proximale

Subjects: Maladie de Werdnig-Hoffmann -- Thérapeutique; Conseil à l'officine; [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences

  • Source: https://dumas.ccsd.cnrs.fr/dumas-03941667 ; Sciences pharmaceutiques. 2022.

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Academic Journal

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France

Subjects: Continuous positive airway pressure; Home care; Neuromuscular disease

  • Source: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.science/hal-03792014 ; Neuromuscular Disorders, 2022, 32 (11-12), pp.886-892. ⟨10.1016/j.nmd.2022.09.008⟩.

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Dissertation/ Thesis

Evaluation of a haplotype associated with the cis duplication of the SMN1 gene : utility for genetic counseling of spinal muscular atrophy ; Évaluation d'un haplotype associé à la duplication en cis du gène SMN1 : utilité pour le conseil génétique de l'amyotrophie spinale proximale

Subjects: Maladie de Werdnig-Hoffmann; Génotype; Conseil génétique

  • Source: https://dumas.ccsd.cnrs.fr/dumas-02949211 ; Médecine humaine et pathologie. 2020.

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Dissertation/ Thesis

Multiomic investigations in neuromuscular diseases ; Explorations Multi-omiques dans les maladies neuromusculaires

Subjects: Neuromuscular disorders; Omics; Precision medicine

  • Source: https://theses.hal.science/tel-04033749 ; Médecine humaine et pathologie. Normandie Université, 2023. Français. ⟨NNT : 2023NORMR001⟩.

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Academic Journal

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

Subjects: SMA; caregivers; ethics

  • Source: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://hal.science/hal-02500990 ; Frontiers in Pediatrics, 2020, 8, pp.4. ⟨10.3389/fped.2020.00004⟩.

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  • 1-6 ل  6 نتائج ل ""Muscular Atrophy""