Publications:

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

Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B

Publication Date: 2020-03-03

Variant appearance in text: NPC1: 2761C>T; Q921*

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

View BVdb publication page

The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: NPC1: 2761C>T; Gln921Ter; rs786204512

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Fecarotta, Simona S; Romano, Alfonso A; Della Casa, Roberto R; Del Giudice, Ennio E; Bruschini, Diana D; Mansi, Giuseppina G; Bembi, Bruno B; Dardis, Andrea A; Fiumara, Agata A; Di Rocco, Maja M; Uziel, Graziella G; Ardissone, Anna A; Roccatello, Dario D; Alpa, Mirella M; Bertini, Enrico E; D'Amico, Adele A; Dionisi-Vici, Carlo C; Deodato, Federica F; Caviglia, Stefania S; Federico, Antonio A; Palmeri, Silvia S; Gabrielli, Orazio O; Santoro, Lucia L; Filla, Alessandro A; Russo, Cinzia C; Parenti, Giancarlo G; Andria, Generoso G

Publication Date: 2015-02-27

Variant appearance in text: NPC1: 2761C>T; Q921X

PubMed Link: 25888393

Variant Present in the following documents:

• 13023_2015_240_MOESM1_ESM.pdf

View BVdb publication page

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

American Journal Of Human Genetics

Sun, X X; Marks, D L DL; Park, W D WD; Wheatley, C L CL; Puri, V V; O'Brien, J F JF; Kraft, D L DL; Lundquist, P A PA; Patterson, M C MC; Pagano, R E RE; Snow, K K

Publication Date: 2001-06

Variant appearance in text: NPC1: Q921X

PubMed Link: 11349231

Variant Present in the following documents:

• Main text

View BVdb publication page