Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia V. Russo, Maja Di Rocco, Antonio Toscano, Maurizio Scarpa, Bruno Bembi

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DOI: 10.3390/jcm9030679
Published: 2020-03-03
Container: Journal of Clinical Medicine
Publisher: MDPI AG
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.3390/jcm9030679,
  title = {Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants},
  author = {Andrea Dardis and Stefania Zampieri and Cinzia Gellera and Rosalba Carrozzo and Silvia Cattarossi and Paolo Peruzzo and Rosalia Dariol and Annalisa Sechi and Federica Deodato and Claudio Caccia and Daniela Verrigni and Serena Gasperini and Agata Fiumara and Simona Fecarotta and Miryam Carecchio and Massimiliano Filosto and Lucia Santoro and Barbara Borroni and Andrea Bordugo and Francesco Brancati and Cinzia V. Russo and Maja Di Rocco and Antonio Toscano and Maurizio Scarpa and Bruno Bembi},
  year = {2020},
  journal = {Journal of Clinical Medicine},
  doi = {10.3390/jcm9030679},
  url = {https://doi.org/10.3390/jcm9030679}
}

RIS

TY  - JOUR
TI  - Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
AU  - Andrea Dardis
AU  - Stefania Zampieri
AU  - Cinzia Gellera
AU  - Rosalba Carrozzo
AU  - Silvia Cattarossi
AU  - Paolo Peruzzo
AU  - Rosalia Dariol
AU  - Annalisa Sechi
AU  - Federica Deodato
AU  - Claudio Caccia
AU  - Daniela Verrigni
AU  - Serena Gasperini
AU  - Agata Fiumara
AU  - Simona Fecarotta
AU  - Miryam Carecchio
AU  - Massimiliano Filosto
AU  - Lucia Santoro
AU  - Barbara Borroni
AU  - Andrea Bordugo
AU  - Francesco Brancati
AU  - Cinzia V. Russo
AU  - Maja Di Rocco
AU  - Antonio Toscano
AU  - Maurizio Scarpa
AU  - Bruno Bembi
PY  - 2020
JO  - Journal of Clinical Medicine
DO  - 10.3390/jcm9030679
UR  - https://doi.org/10.3390/jcm9030679
ER  -

APA

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, C. V., Rocco, M. D., Toscano, A., Scarpa, M., & Bembi, B. (2020). Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants. Journal of Clinical Medicine. https://doi.org/10.3390/jcm9030679

Source records

crossref · retrieved 2026-09-26T02:06:45.411Z