Search Results - "Chabalier, Delphine"
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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
Published in Frontiers in pediatrics (18-02-2020)“…Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age…”
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Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?
Published in Neuromuscular disorders : NMD (01-06-2019)“…•TC is simple to measure, non-invasive and reproducible in extremely fragile infants.•The rib cage is underdeveloped in infants with SMA 1 from the first weeks…”
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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
Published in Journal of clinical immunology (01-08-2023)“…The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an…”
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