Suchergebnisse - "Battini, Roberta"

PubPharm (18)

1

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

enthalten in: Journal of neurology | 2022

von Sabbatini, D. | Fusto, A. | Vianello, S. | +30

2

Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea : A Multicenter Prospective Study

enthalten in: International journal of environmental research and public health | 2022

von Orsini, A. | Foiadelli, T. | Sica, A. | +32

3

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia : results of a multicentric study

enthalten in: Journal of medical genetics | 2022

von Nuovo, S. | Micalizzi, A. | Romaniello, R. | +32

4

Monoallelic KIF1A-related disorders : a multicenter cross sectional study and systematic literature review

enthalten in: Journal of neurology | 2022

von Vecchia, S. | Tessa, A. | Dosi, C. | +36

ErratumIn: J Neurol. 2021 Oct 15;:. - PMID 34652506

5

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

enthalten in: Neuromuscular disorders : NMD | 2021

von Brogna, C. | Coratti, G. | Rossi, R. | +28

6

Age and sex prevalence estimate of Joubert syndrome in Italy

enthalten in: Neurology | 2020

von Nuovo, S. | Bacigalupo, I. | Ginevrino, M. | +111

CommentIn: Neurology. 2020 Feb 25;94(8):337-338. - PMID 31969464

7

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

enthalten in: PloS one | 2019

von Brogna, C. | Coratti, G. | Pane, M. | +24

ErratumIn: PLoS One. 2019 Jul 31;14(7):e0220714. - PMID 31365579

8

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

enthalten in: Developmental medicine and child neurology | 2017

von Simonati, A. | Williams, R. | Nardocci, N. | +7

CommentIn: Dev Med Child Neurol. 2017 Aug;59(8):777-778. - PMID 28556060

9

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade : Critical issues and areas for improvements

enthalten in: Neuromuscular disorders : NMD | 2017

von D'Amico, A. | Catteruccia, M. | Baranello, G. | +26

CommentIn: Neuromuscul Disord. 2017 Oct;27(10):973. - PMID 28711279

10

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

enthalten in: PloS one | 2016

von Mercuri, E. | Coratti, G. | Messina, S. | +16