Sturiale L - Search Results

1

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.

2

Discrimination of isomeric oligosaccharides and sequencing of unknowns by post source decay matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Garozzo D, Nasello V, Spina E, Sturiale L. Garozzo D, et al. Among authors: sturiale l. Rapid Commun Mass Spectrom. 1997;11(14):1561-6. doi: 10.1002/(SICI)1097-0231(199709)11:14<1561::AID-RCM45>3.0.CO;2-X. Rapid Commun Mass Spectrom. 1997. PMID: 9332021

3

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. Barone R, et al. Among authors: sturiale l. J Inherit Metab Dis. 2007 Feb;30(1):107. doi: 10.1007/s10545-006-0486-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186415

4

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M. Barone R, et al. Among authors: sturiale l. Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446. Am J Med Genet A. 2008. PMID: 18629883

5

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Sturiale L, Barone R, Palmigiano A, Ndosimao CN, Briones P, Adamowicz M, Jaeken J, Garozzo D. Sturiale L, et al. Proteomics. 2008 Sep;8(18):3822-32. doi: 10.1002/pmic.200700496. Proteomics. 2008. PMID: 18712764

6

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Barone R, Sturiale L, Garozzo D. Barone R, et al. Among authors: sturiale l. Mass Spectrom Rev. 2009 May-Jun;28(3):517-42. doi: 10.1002/mas.20201. Mass Spectrom Rev. 2009. PMID: 18844296

7

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

Sturiale L, Barone R, Garozzo D. Sturiale L, et al. J Inherit Metab Dis. 2011 Aug;34(4):891-9. doi: 10.1007/s10545-011-9306-8. Epub 2011 Mar 8. J Inherit Metab Dis. 2011. PMID: 21384227 Review.

8

Glycomics of pediatric and adulthood diseases of the central nervous system.

Barone R, Sturiale L, Palmigiano A, Zappia M, Garozzo D. Barone R, et al. Among authors: sturiale l. J Proteomics. 2012 Sep 18;75(17):5123-39. doi: 10.1016/j.jprot.2012.07.007. Epub 2012 Jul 16. J Proteomics. 2012. PMID: 22813883 Review.

9

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: sturiale l. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149

10

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: sturiale l. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454

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