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- [41] Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 992 - 1002Hanein, Sylvain论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceMartin, Elodie论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceBoukhris, Amir论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France Hop Univ Habib Bourguiba, Serv Neurol, Sfax 3029, Tunisia INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceByrne, Paula论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, Conway Inst Biomol & Biomed Res, Sch Med & Med Serv, Dublin 4, Ireland INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceGoizet, Cyril论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France Univ Victor Segalen Bordeaux 2, Serv Genet Med, Hop Pellegrin, Lab Genet Humaine, F-33076 Bordeaux, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceHamri, Abdelmadjid论文数: 0 引用数: 0 h-index: 0机构: Hop Benbadis, Constantine 25000, Algeria INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceBenomar, Ali论文数: 0 引用数: 0 h-index: 0机构: Hop Specialit, Dept Neurol, Rabat, Morocco Hop Specialit, Dept Neurogenet, Rabat, Morocco INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceLossos, Alexander论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Hadassah Med Ctr, Dept Neurol, Jerusalem, Israel INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceDenora, Paola论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France IRCCS Bambino Gesu Childrens Hosp, Mol Med Unit, I-400165 Rome, Italy INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceFernandez, Jose论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceElleuch, Nizar论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Habib Bourguiba, Serv Neurol, Sfax 3029, Tunisia INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceForlani, Sylvie论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceFeki, Imed论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceHutchinson, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, St Vincents Univ Hosp, Dept Neurol, Dublin 4, Ireland INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceSantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Mol Med Unit, I-400165 Rome, Italy INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceMhiri, Chokri论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Habib Bourguiba, Serv Neurol, Sfax 3029, Tunisia INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, F-75013 Paris, France Univ Paris 06, Fac Med Pitie Salpetriere, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, FranceStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France UPMC, UMR S679, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France INSERM, Unite Mixte Rech UMR S679, F-75013 Paris, France
- [42] Chromosome 15q linked autosomal dominant hereditary spastic paraplegia: new mapping information and candidate gene analysis.AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 391 - 391Rainier, SR论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USAJones, SM论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USABui, M论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USAFink, JK论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USA
- [43] Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian populationJOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 277 (1-2) : 22 - 25Denora, Paola S.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy INSERM, UMR Neurol & Therapeut Expt S679, F-75654 Paris 13, France Univ Paris 06, UPMC, UMR S679, F-75252 Paris 05, France Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMuglia, Maria论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Magna Graecia Univ Catanzaro, Inst Neurol, Catanzaro, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyCasali, Carlo论文数: 0 引用数: 0 h-index: 0机构: Univ Rome La Sapienza Polo Pontino, Dept Neurol, Latina, Italy Univ Rome La Sapienza Polo Pontino, ORL, Latina, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyTruchetto, Jeremy论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy Univ Paris 06, UPMC, UMR S679, F-75252 Paris 05, France Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalySilvestri, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Neurosci, Rome, Italy IRCCS, Don Carlo Gnocchi Fdn, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMessina, Demetrio论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyBoukrhis, Amir论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR Neurol & Therapeut Expt S679, F-75654 Paris 13, France Univ Paris 06, UPMC, UMR S679, F-75252 Paris 05, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMagariello, Angela论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyModoni, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Neurosci, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMasciullo, Marcella论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Neurosci, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMalandrini, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Neurosci, I-53100 Siena, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyMorelli, Maurizio论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italyde Leva, Maria Fulvia论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico 2, Dept Neurol Sci, Naples, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyVillanova, Marcello论文数: 0 引用数: 0 h-index: 0机构: Villa Nigrisoli Hosp, Bologna, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyGiugni, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: IRCCS San Raffaele Pisana, Unit Neuroradiol, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyCitrigno, Luigi论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyRizza, Teresa论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyFederico, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Neurosci, I-53100 Siena, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyPierallini, Alberto论文数: 0 引用数: 0 h-index: 0机构: IRCCS San Raffaele Pisana, Unit Neuroradiol, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyQuattrone, Aldo论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Neurol Sci, Cosenza, Italy Magna Graecia Univ Catanzaro, Inst Neurol, Catanzaro, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyFilla, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico 2, Dept Neurol Sci, Naples, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR Neurol & Therapeut Expt S679, F-75654 Paris 13, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalyStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR Neurol & Therapeut Expt S679, F-75654 Paris 13, France Univ Paris 06, UPMC, UMR S679, F-75252 Paris 05, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, ItalySantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, I-00165 Rome, Italy
- [44] Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesisJOURNAL OF GENETICS, 2018, 97 (05) : 1469 - 1472Vinci, Mirella论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, I-94018 Troina, Italy IRCCS, Oasi Res Inst, I-94018 Troina, ItalyFichera, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, I-94018 Troina, Italy Univ Catania, Dept Biomed & Biotechnol Sci, Med Genet, I-95100 Catania, Italy IRCCS, Oasi Res Inst, I-94018 Troina, ItalyMusumeci, Sebastiano Antonino论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, I-94018 Troina, Italy IRCCS, Oasi Res Inst, I-94018 Troina, ItalyCali, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, I-94018 Troina, Italy IRCCS, Oasi Res Inst, I-94018 Troina, ItalyVitello, Girolamo Aurelio论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, I-94018 Troina, Italy IRCCS, Oasi Res Inst, I-94018 Troina, Italy
- [45] Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesisJournal of Genetics, 2018, 97 : 1469 - 1472Mirella Vinci论文数: 0 引用数: 0 h-index: 0机构: Oasi Research Institute-IRCCS,Department of Biomedical and Biotechnological Sciences, Medical GeneticsMarco Fichera论文数: 0 引用数: 0 h-index: 0机构: Oasi Research Institute-IRCCS,Department of Biomedical and Biotechnological Sciences, Medical GeneticsSebastiano Antonino Musumeci论文数: 0 引用数: 0 h-index: 0机构: Oasi Research Institute-IRCCS,Department of Biomedical and Biotechnological Sciences, Medical GeneticsFrancesco Cali论文数: 0 引用数: 0 h-index: 0机构: Oasi Research Institute-IRCCS,Department of Biomedical and Biotechnological Sciences, Medical GeneticsGirolamo Aurelio Vitello论文数: 0 引用数: 0 h-index: 0机构: Oasi Research Institute-IRCCS,Department of Biomedical and Biotechnological Sciences, Medical Genetics