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Page 1
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.
J Mol Diagn. 2017 Sep;19(5):733-741. doi: 10.1016/j.jmoldx.2017.05.005. Epub 2017 Jul 18.
J Mol Diagn. 2017.
PMID: 28727984
Free article.
A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation.
Mio C, Cifù A, Marzinotto S, Bergamin N, Caldana C, Cattarossi S, Cmet S, Cussigh A, Martinella R, Zucco J, Verardo R, Schneider C, Marcon B, Zampieri S, Pipan C, Curcio F.
Mio C, et al. Among authors: cattarossi s.
Dis Markers. 2020 Dec 9;2020:8869424. doi: 10.1155/2020/8869424. eCollection 2020.
Dis Markers. 2020.
PMID: 33343767
Free PMC article.
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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Zampieri S, Cattarossi S, Pavan E, Barbato A, Fiumara A, Peruzzo P, Scarpa M, Ciana G, Dardis A.
Zampieri S, et al. Among authors: cattarossi s.
Int J Mol Sci. 2021 May 24;22(11):5538. doi: 10.3390/ijms22115538.
Int J Mol Sci. 2021.
PMID: 34073924
Free PMC article.
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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B.
Dardis A, et al. Among authors: cattarossi s.
J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679.
J Clin Med. 2020.
PMID: 32138288
Free PMC article.
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Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease.
Sechi A, Salvadego D, Da Ponte A, Bertin N, Dardis A, Cattarossi S, Devigili G, Reccardini F, Bembi B, Grassi B.
Sechi A, et al. Among authors: cattarossi s.
Neuromuscul Disord. 2017 Jun;27(6):542-549. doi: 10.1016/j.nmd.2017.03.002. Epub 2017 Mar 10.
Neuromuscul Disord. 2017.
PMID: 28433478
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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A.
Zampieri S, et al. Among authors: cattarossi s.
PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27.
PLoS One. 2012.
PMID: 22848519
Free PMC article.
Clinical Trial.
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