IRIS
BATTINI, ROBERTA
 Distribuzione geografica
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Continente #
EU - Europa 818
Totale 818
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Nazione #
IT - Italia 818
Totale 818
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Città #
Genova 401
Genoa 213
Rapallo 182
Vado Ligure 18
Bordighera 4
Totale 818
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Nome #
null 112
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations 110
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 107
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 86
CASK related disorder: Epilepsy and developmental outcome 51
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus 48
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 41
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 39
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy 33
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases 33
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 31
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 30
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 30
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 22
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up 22
De novo GRIN2A variants associated with epilepsy and autism and literature review 19
Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study 17
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 9
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series 8
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 5
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 2
Totale 855
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Categoria #
all - tutte 4.935
article - articoli 4.935
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.870
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020150 0 6 2 11 13 20 24 17 18 23 13 3
2020/202190 7 2 7 14 3 10 3 10 6 9 10 9
2021/2022126 5 6 2 6 3 7 10 24 12 13 11 27
2022/2023210 17 17 5 12 36 30 0 17 46 3 24 3
2023/2024189 8 17 8 31 9 34 18 7 5 5 25 22
2024/202527 19 8 0 0 0 0 0 0 0 0 0 0
Totale 855