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| Title : A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement - Taroni_2019_Front.Pediatr_7_127 |
| Author(s) : Taroni F , Capone V , Berrettini A , De Marco EA , Manzoni GA , Montini G |
| Ref : Front Pediatr , 7 :127 , 2019 |
| Abstract : Taroni_2019_Front.Pediatr_7_127 |
| ESTHER : Taroni_2019_Front.Pediatr_7_127 |
| PubMedSearch : Taroni_2019_Front.Pediatr_7_127 |
| PubMedID: 31024870 |
| Gene_locus related to this paper: human-PREPL |
| Title : A novel NDRG1 mutation in a non-Romani patient with CMT4D\/HMSN-Lom - Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| Author(s) : Piscosquito G , Magri S , Saveri P , Milani M , Ciano C , Farina L , Taroni F , Pareyson D |
| Ref : J Peripher Nerv Syst , 22 :47 , 2017 |
| Abstract : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| ESTHER : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedSearch : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedID: 27982524 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation - |
| Author(s) : Luigetti M , Taroni F , Milani M , Del Grande A , Romano A , Bisogni G , Conte A , Contaldo I , Mercuri E , Sabatelli M |
| Ref : Journal of Neurology Sci , 345 :271 , 2014 |
| PubMedID: 25108819 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : Paraoxonase gene mutations in amyotrophic lateral sclerosis - Ticozzi_2010_Ann.Neurol_68_102 |
| Author(s) : Ticozzi N , LeClerc AL , Keagle PJ , Glass JD , Wills AM , van Blitterswijk M , Bosco DA , Rodriguez-Leyva I , Gellera C , Ratti A , Taroni F , McKenna-Yasek D , Sapp PC , Silani V , Furlong CE , Brown RH, Jr. , Landers JE |
| Ref : Annals of Neurology , 68 :102 , 2010 |
| Abstract : Ticozzi_2010_Ann.Neurol_68_102 |
| ESTHER : Ticozzi_2010_Ann.Neurol_68_102 |
| PubMedSearch : Ticozzi_2010_Ann.Neurol_68_102 |
| PubMedID: 20582942 |