IRIS
BATTINI, ROBERTA
 Distribuzione geografica
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Continente #
EU - Europa 637
Totale 637
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Nazione #
IT - Italia 637
Totale 637
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Città #
Genova 320
Rapallo 164
Genoa 149
Bordighera 4
Totale 637
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Nome #
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 109
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 104
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 86
CASK related disorder: Epilepsy and developmental outcome 43
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus 43
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 37
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 37
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 29
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 29
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy 28
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 28
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 27
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up 19
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 18
Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study 12
De novo GRIN2A variants associated with epilepsy and autism and literature review 10
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series 5
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 3
Totale 667
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Categoria #
all - tutte 3.960
article - articoli 3.960
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 7.920
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201929 0 0 0 0 0 0 0 0 0 0 16 13
2019/2020115 6 5 1 9 10 15 17 11 11 18 10 2
2020/202172 5 2 6 13 3 3 3 9 5 7 10 6
2021/2022114 2 6 2 5 3 5 10 22 11 12 10 26
2022/2023190 16 15 5 11 33 28 0 16 38 3 22 3
2023/2024133 8 16 8 30 8 30 16 7 5 5 0 0
Totale 667