E-LIB Suche - Ergebnisse für: Monfrini, E.

1

Genetics in Parkinson's disease, state-of-the-art and futur..:

Trevisan, L ; Gaudio, A ; Monfrini, E...
British Medical Bulletin. 149 (2024) 1 - p. 60-71 , 2024

Link: https://doi.org/10.1093/..

2

Case report: Asp194Ala variant in MFN2 is associated with A..:

Vinciguerra, C. ; Di Fonzo, A. ; Monfrini, E....
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Systemic involvement in adult‐onset leukoencephalopathy wit..:

Bonomo, G. ; Monfrini, E. ; Borellini, L....
European Journal of Neurology. 27 (2020) 11 - p. 2329-2332 , 2020

Link: https://doi.org/10.1111/..

4

Childhood‐onset dystonia with cerebellar signs: expanding t..:

Erro, R. ; Di Fonzo, A. ; Percetti, M....
European Journal of Neurology. 27 (2020) 11 - p. , 2020

Link: https://doi.org/10.1111/..

5

Complex genomic alterations and intellectual disability: an..:

Silipigni, R. ; Milani, D. ; Tolva, G....
Journal of Intellectual Disability Research. 65 (2020) 2 - p. 113-124 , 2020

Link: https://doi.org/10.1111/..

6

Identification of a novel locus in a large pedigree with Pa..:

Monfrini, E. ; Malaguti, M.C. ; Ottaviani, D....
Parkinsonism & Related Disorders. 46 (2018) - p. e72-e73 , 2018

Link: https://doi.org/10.1016/..

7

Juvenile dystonia-parkinsonism syndrome caused by a novel p..:

Martino, D. ; Melzi, V. ; Franco, G....
Parkinsonism & Related Disorders. 21 (2015) 11 - p. 1378-1380 , 2015

Link: https://doi.org/10.1016/..

8

A novel homozygous PLA2G6 mutation causes dystonia-parkinso..:

Malaguti, M.C. ; Melzi, V. ; Di Giacopo, R....
Parkinsonism & Related Disorders. 21 (2015) 3 - p. 337-339 , 2015

Link: https://doi.org/10.1016/..

9

Recent Advances in the Treatment of Genetic Forms of Parkin..:

Cavallieri F ; Cury R. G ; Guimaraes T...
info:eu-repo/semantics/altIdentifier/pmid/36899899. , 2023

Link: https://hdl.handle.net/2..

10

Genetic Evidence for Endolysosomal Dysfunction in Parkinson..:

Yahya V ; Di Fonzo A ; Monfrini E
info:eu-repo/semantics/altIdentifier/pmid/37047309. , 2023

Link: https://hdl.handle.net/2..

11

Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia..:

Monfrini, E ; Di Fonzo, A ; Morgante, F
https://openaccess.sgul.ac.uk/id/eprint/115656/1/Movement%20Disord%20Clin%20Pract%20-%202023%20-%20Monfrini.pdf. , 2023

Link: https://openaccess.sgul...

12

Case report: Asp194Ala variant in MFN2 is associated with A..:

Vinciguerra, C ; Di Fonzo, A ; Monfrini, E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400291/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Brain Calcifications: Genetic, Molecular, and Clinical Aspe..:

Monfrini E ; Arienti F ; Rinchetti P..
info:eu-repo/semantics/altIdentifier/pmid/37240341. , 2023

Link: https://hdl.handle.net/2..

14

Speech, Gait, and Vestibular Function in Cerebellar Ataxia ..:

Di Rauso G ; Castellucci A ; Cavallieri F...
info:eu-repo/semantics/altIdentifier/pmid/37891834. , 2023

Link: https://hdl.handle.net/2..

15

Role of Lysosomal Gene Variants in Modulating GBA-Associate..:

Straniero L ; Rimoldi V ; Monfrini E...
info:eu-repo/semantics/altIdentifier/pmid/35262230. , 2022

Link: https://hdl.handle.net/2..