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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1998 1
2001 2
2002 3
2003 1
2004 4
2005 5
2006 2
2007 5
2008 9
2009 4
2010 3
2011 5
2012 8
2013 6
2014 5
2015 8
2016 6
2017 7
2018 5
2019 6
2020 1
2021 12
2022 5
2023 4
2024 0

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104 results

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Page 1
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: sturiale l. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
N-Glycomics of Human Erythrocytes.
Bua RO, Messina A, Sturiale L, Barone R, Garozzo D, Palmigiano A. Bua RO, et al. Among authors: sturiale l. Int J Mol Sci. 2021 Jul 28;22(15):8063. doi: 10.3390/ijms22158063. Int J Mol Sci. 2021. PMID: 34360826 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.
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
Pan X, De Aragão CBP, Velasco-Martin JP, Priestman DA, Wu HY, Takahashi K, Yamaguchi K, Sturiale L, Garozzo D, Platt FM, Lamarche-Vane N, Morales CR, Miyagi T, Pshezhetsky AV. Pan X, et al. Among authors: sturiale l. FASEB J. 2017 Aug;31(8):3467-3483. doi: 10.1096/fj.201601299R. Epub 2017 Apr 25. FASEB J. 2017. PMID: 28442549
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L, Bianchi P, Sturiale L, Garozzo D, Mangili G, Keldermans L, Rizzo R, Matthijs G, Fiumara A, Jaeken J, Barone R. Cirnigliaro L, et al. Among authors: sturiale l. Birth Defects Res. 2022 Mar;114(5-6):165-174. doi: 10.1002/bdr2.1981. Epub 2022 Jan 23. Birth Defects Res. 2022. PMID: 35068072 Free PMC article.
Radiomics and Prostate MRI: Current Role and Future Applications.
Cutaia G, La Tona G, Comelli A, Vernuccio F, Agnello F, Gagliardo C, Salvaggio L, Quartuccio N, Sturiale L, Stefano A, Calamia M, Arnone G, Midiri M, Salvaggio G. Cutaia G, et al. Among authors: sturiale l. J Imaging. 2021 Feb 11;7(2):34. doi: 10.3390/jimaging7020034. J Imaging. 2021. PMID: 34460633 Free PMC article. Review.
SLC35A2-CDG: Novel variant and review.
Quelhas D, Correia J, Jaeken J, Azevedo L, Lopes-Marques M, Bandeira A, Keldermans L, Matthijs G, Sturiale L, Martins E. Quelhas D, et al. Among authors: sturiale l. Mol Genet Metab Rep. 2021 Jan 30;26:100717. doi: 10.1016/j.ymgmr.2021.100717. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552911 Free PMC article.
Tear N-glycomics in vernal and atopic keratoconjunctivitis.
Messina A, Palmigiano A, Tosto C, Romeo DA, Sturiale L, Garozzo D, Leonardi A. Messina A, et al. Among authors: sturiale l. Allergy. 2021 Aug;76(8):2500-2509. doi: 10.1111/all.14775. Epub 2021 Mar 15. Allergy. 2021. PMID: 33583051
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E, Barone R, Sturiale L, Pasquariello R, Alessandrì MG, Pinto AM, Renieri A, Panteghini C, Garavaglia B, Cioni G, Battini R. Bonaventura E, et al. Among authors: sturiale l. Orphanet J Rare Dis. 2021 Jul 10;16(1):307. doi: 10.1186/s13023-021-01941-y. Orphanet J Rare Dis. 2021. PMID: 34246313 Free PMC article.
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.
104 results