Literature DB >> 23239021

De novo FTL mutation: a clinical, neuroimaging, and molecular study.

Eugenia Storti, Francesca Cortese, Roberto Di Fabio, Chiara Fiorillo, Alberto Pierallini, Alessandra Tessa, Annamaria Valleriani, Francesco Pierelli, Filippo M Santorelli, Carlo Casali.   

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Year:  2012        PMID： 23239021     DOI： 10.1002/mds.25275

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  11 in total

Review 1.  Pathogenic mechanism and modeling of neuroferritinopathy.

Authors:  Anna Cozzi; Paolo Santambrogio; Maddalena Ripamonti; Ermanna Rovida; Sonia Levi
Journal:  Cell Mol Life Sci       Date:  2021-01-13       Impact factor: 9.261

2.  Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability.

Authors:  Justin R McNally; Matthew R Mehlenbacher; Sara Luscieti; Gideon L Smith; Aliaksandra A Reutovich; Poli Maura; Paolo Arosio; Fadi Bou-Abdallah
Journal:  Metallomics       Date:  2019-10-16       Impact factor: 4.526

3.  A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Authors:  Katsuya Nishida; Holly J Garringer; Naonobu Futamura; Itaru Funakawa; Kenji Jinnai; Ruben Vidal; Masaki Takao
Journal:  J Neurol Sci       Date:  2014-04-12       Impact factor: 3.181

Review 4.  Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

Authors:  Sonia Levi; Dario Finazzi
Journal:  Front Pharmacol       Date:  2014-05-07       Impact factor: 5.810

5.  FTL mutation in a Chinese pedigree with neuroferritinopathy.

Authors:  Wang Ni; Hong-Fu Li; Yi-Cen Zheng; Zhi-Ying Wu
Journal:  Neurol Genet       Date:  2016-04-27

Review 6.  Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Authors:  Sonia Levi; Ermanna Rovida
Journal:  Neurobiol Dis       Date:  2015-03-12       Impact factor: 5.996

Review 7.  Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.

Authors:  Barry B Muhoberac; Ruben Vidal
Journal:  Front Neurosci       Date:  2019-12-11       Impact factor: 4.677

8.  Behavioral characterization of mouse models of neuroferritinopathy.

Authors:  Sara Capoccia; Federica Maccarinelli; Barbara Buffoli; Luigi F Rodella; Ottavio Cremona; Paolo Arosio; Francesca Cirulli
Journal:  PLoS One       Date:  2015-02-17       Impact factor: 3.240

Review 9.  Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.

Authors:  Niraj Kumar; Philippe Rizek; Mandar Jog
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-03-17

10.  Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.

Authors:  Anna Cozzi; Daniel I Orellana; Paolo Santambrogio; Alicia Rubio; Cinzia Cancellieri; Serena Giannelli; Maddalena Ripamonti; Stefano Taverna; Giulia Di Lullo; Ermanna Rovida; Maurizio Ferrari; Gian Luca Forni; Chiara Fiorillo; Vania Broccoli; Sonia Levi
Journal:  Stem Cell Reports       Date:  2019-10-03       Impact factor: 7.765
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