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Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, Echaniz-Laguna A. Coly M, et al. Among authors: puma a. J Neurol. 2024 May 20. doi: 10.1007/s00415-024-12410-4. Online ahead of print. J Neurol. 2024. PMID: 38767661
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: puma a. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Gragnaniello V, Burlina AP, Commone A, Gueraldi D, Puma A, Porcù E, Stornaiuolo M, Cazzorla C, Burlina AB. Gragnaniello V, et al. Among authors: puma a. Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031. Int J Neonatal Screen. 2023. PMID: 37367212 Free PMC article. Review.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Among authors: puma a. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Peillet C, Adams D, Attarian S, Bouhour F, Cauquil C, Cassereau J, Chanson JB, Cintas P, Creange A, Delmont E, Fargeot G, Genestet S, Gueguen A, Kaminsky AL, Kuntzer T, Labeyrie C, Michaud M, Pereon Y, Puma A, Viala K, Chretien P, Adam C, Echaniz-Laguna A. Peillet C, et al. Among authors: puma a. Eur J Neurol. 2022 Dec;29(12):3547-3555. doi: 10.1111/ene.15523. Epub 2022 Aug 29. Eur J Neurol. 2022. PMID: 35969369
77 results