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108 results

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Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley R, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV. Xu T, et al. Among authors: sturiale l. bioRxiv [Preprint]. 2024 Apr 27:2024.04.26.587986. doi: 10.1101/2024.04.26.587986. bioRxiv. 2024. PMID: 38712143 Free PMC article. Preprint.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: sturiale l. Neurogenetics. 2024 Mar 18. doi: 10.1007/s10048-024-00754-y. Online ahead of print. Neurogenetics. 2024. PMID: 38498292
CSF N-Glycomics Using MALDI MS Techniques.
Messina A, Romeo DA, Barone R, Sturiale L, Palmigiano A, Zappia M, Garozzo D. Messina A, et al. Among authors: sturiale l. Methods Mol Biol. 2024;2785:49-65. doi: 10.1007/978-1-0716-3774-6_4. Methods Mol Biol. 2024. PMID: 38427187
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: sturiale l. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Among authors: sturiale l. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Detection of sentinel lymph node in vulvar cancer using 99mTc-labeled colloid lymphoscintigraphy, blue dye, and indocyanine-green fluorescence: a meta-analysis of studies published in 2010-2020.
Di Donna MC, Quartuccio N, Giallombardo V, Sturiale L, Arnone A, Ricapito R, Sozzi G, Arnone G, Chiantera V. Di Donna MC, et al. Among authors: sturiale l. Arch Gynecol Obstet. 2023 Jun;307(6):1677-1686. doi: 10.1007/s00404-022-06605-1. Epub 2022 May 24. Arch Gynecol Obstet. 2023. PMID: 35608701 Review.
108 results