Manini A - Search Results

1

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.

Abati E, Manini A, Velardo D, Del Bo R, Napoli L, Rizzo F, Moggio M, Bresolin N, Bellone E, Bassi MT, D'Angelo MG, Comi GP, Corti S. Abati E, et al. Among authors: manini a. Sci Rep. 2022 Apr 13;12(1):6181. doi: 10.1038/s41598-022-10220-0. Sci Rep. 2022. PMID: 35418194 Free PMC article.

2

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Manini A, Bocci T, Migazzi A, Monfrini E, Ronchi D, Franco G, De Rosa A, Sartucci F, Priori A, Corti S, Comi GP, Bresolin N, Basso M, Di Fonzo A. Manini A, et al. BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1. BMC Neurol. 2020. PMID: 33160304 Free PMC article.

3

Screening of LRP10 mutations in Parkinson's disease patients from Italy.

Manini A, Straniero L, Monfrini E, Percetti M, Vizziello M, Franco G, Rimoldi V, Zecchinelli A, Pezzoli G, Corti S, Comi GP, Duga S, Di Fonzo A. Manini A, et al. Parkinsonism Relat Disord. 2021 Aug;89:17-21. doi: 10.1016/j.parkreldis.2021.06.014. Epub 2021 Jun 19. Parkinsonism Relat Disord. 2021. PMID: 34216936

4

CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.

Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A. Mauri E, et al. Among authors: manini a. J Neurol Sci. 2021 Dec 15;431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3. J Neurol Sci. 2021. PMID: 34763287 No abstract available.

5

Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence.

Manini A, Abati E, Nuredini A, Corti S, Comi GP. Manini A, et al. Front Neurol. 2022 Jan 5;12:814174. doi: 10.3389/fneur.2021.814174. eCollection 2021. Front Neurol. 2022. PMID: 35095747 Free PMC article. Review.

6

Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction: A trembling balance.

Manini A, Abati E, Comi GP, Corti S, Ronchi D. Manini A, et al. Ageing Res Rev. 2022 Apr;76:101578. doi: 10.1016/j.arr.2022.101578. Epub 2022 Jan 31. Ageing Res Rev. 2022. PMID: 35114397 Review.

7

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression.

Manini A, Meneri M, Rodolico C, Corti S, Toscano A, Comi GP, Musumeci O, Ronchi D. Manini A, et al. Front Neurol. 2022 Feb 25;13:857279. doi: 10.3389/fneur.2022.857279. eCollection 2022. Front Neurol. 2022. PMID: 35280287 Free PMC article.

8

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.

Manini A, Caporali L, Meneri M, Zanotti S, Piga D, Arena IG, Corti S, Toscano A, Comi GP, Musumeci O, Carelli V, Ronchi D. Manini A, et al. Front Genet. 2022 May 31;13:906667. doi: 10.3389/fgene.2022.906667. eCollection 2022. Front Genet. 2022. PMID: 35711919 Free PMC article.

9

Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases.

Abati E, Manini A, Comi GP, Corti S. Abati E, et al. Among authors: manini a. Cell Mol Life Sci. 2022 Jun 21;79(7):374. doi: 10.1007/s00018-022-04408-w. Cell Mol Life Sci. 2022. PMID: 35727341 Free PMC article. Review.

10

A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.

Fumagalli M, Ronchi D, Bedeschi MF, Manini A, Cristofori G, Mosca F, Dilena R, Sciacco M, Zanotti S, Piga D, Ardissino G, Triulzi F, Corti S, Comi GP, Salviati L. Fumagalli M, et al. Among authors: manini a. Mol Genet Metab Rep. 2022 Jun 18;32:100887. doi: 10.1016/j.ymgmr.2022.100887. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756861 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

163 results

Search Page

Filters