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Page 1
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A. Bitetto G, et al. Among authors: straniero l. Parkinsonism Relat Disord. 2020 May;74:1-5. doi: 10.1016/j.parkreldis.2020.03.018. Epub 2020 Apr 2. Parkinsonism Relat Disord. 2020. PMID: 32259769 Free article.
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. Straniero L, et al. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. Ann Neurol. 2017. PMID: 28892570
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.
Perez Carrion M, Pischedda F, Biosa A, Russo I, Straniero L, Civiero L, Guida M, Gloeckner CJ, Ticozzi N, Tiloca C, Mariani C, Pezzoli G, Duga S, Pichler I, Pan L, Landers JE, Greggio E, Hess MW, Goldwurm S, Piccoli G. Perez Carrion M, et al. Among authors: straniero l. Front Mol Neurosci. 2018 Feb 28;11:64. doi: 10.3389/fnmol.2018.00064. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29541021 Free PMC article.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. Monfrini E, et al. Among authors: straniero l. Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1. Parkinsonism Relat Disord. 2019. PMID: 30850329 Free article.
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders.
Paulis M, Susani L, Castelli A, Suzuki T, Hara T, Straniero L, Duga S, Strina D, Mantero S, Caldana E, Sergi LS, Villa A, Vezzoni P. Paulis M, et al. Among authors: straniero l. Mol Ther Methods Clin Dev. 2020 Jan 21;17:369-377. doi: 10.1016/j.omtm.2020.01.003. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32099849 Free PMC article.
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations.
Monfrini E, Ronchi D, Franco G, Garbellini M, Straniero L, Scola E, Arienti F, Duga S, Comi GP, Bresolin N, Di Fonzo A. Monfrini E, et al. Among authors: straniero l. Neurol Genet. 2020 Jul 13;6(5):e488. doi: 10.1212/NXG.0000000000000488. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 32802952 Free PMC article. No abstract available.
34 results