title: Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Di Fabio
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Moro
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Liliana
authors.initials: L
authors.lastname: Pestillo
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Meschini
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pezzini
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Doccini
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pierelli
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.affiliation: From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy. filippo3364@gmail.com.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000328:Adult; D056646:Cathepsin F / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology; D053764:Presenilin-1 / Q000235:genetics; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D025822:Ubiquitin C / Q000378:metabolism
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D025822:Ubiquitin C; C534090:CTSF protein, human; D056646:Cathepsin F