BATTINI, ROBERTA
 Distribuzione geografica
Continente #
NA - Nord America 829
EU - Europa 496
AS - Asia 85
AF - Africa 7
SA - Sud America 6
OC - Oceania 4
Totale 1.427
Nazione #
US - Stati Uniti d'America 815
IT - Italia 193
FR - Francia 184
DE - Germania 35
CN - Cina 17
NL - Olanda 14
VN - Vietnam 14
CA - Canada 12
CZ - Repubblica Ceca 12
IN - India 12
UA - Ucraina 12
AE - Emirati Arabi Uniti 11
IE - Irlanda 9
SG - Singapore 9
AT - Austria 8
GB - Regno Unito 7
HK - Hong Kong 5
AU - Australia 4
CH - Svizzera 4
ID - Indonesia 4
NG - Nigeria 4
PH - Filippine 4
RU - Federazione Russa 4
AR - Argentina 3
ES - Italia 3
RS - Serbia 3
TR - Turchia 3
BR - Brasile 2
DK - Danimarca 2
FI - Finlandia 2
JP - Giappone 2
KR - Corea 2
MX - Messico 2
ZA - Sudafrica 2
CL - Cile 1
IR - Iran 1
LT - Lituania 1
MA - Marocco 1
MY - Malesia 1
PT - Portogallo 1
RO - Romania 1
SE - Svezia 1
Totale 1.427
Città #
Ashburn 79
Santa Cruz 62
Fairfield 56
Buffalo 52
Seattle 44
Arezzo 39
Woodbridge 39
Houston 36
Paris 33
Serra 33
Vicopisano 32
Wilmington 28
Fleming Island 20
Cambridge 17
Chicago 15
Rome 15
Dong Ket 10
Ann Arbor 9
Milan 9
Mountain View 9
Dallas 8
Las Vegas 8
Shanghai 8
Vienna 8
Des Moines 7
Dublin 7
Montespertoli 7
Boardman 5
Bologna 5
Ottawa 5
Phoenix 5
Utrecht 5
Bengaluru 4
Brooklyn 4
Lake Forest 4
Los Angeles 4
Milpitas 4
Pisa 4
Amsterdam 3
Belgrade 3
Cedar Knolls 3
Columbus 3
Crugers 3
Denver 3
Empoli 3
Herndon 3
New York 3
Pontedera 3
San Diego 3
San Francisco 3
Alessandria 2
Belmont 2
Berlin 2
Boston 2
Böblingen 2
Büdelsdorf 2
Carmona 2
Clonmel 2
Esslingen am Neckar 2
Fiesse 2
Frankfurt Am Main 2
Grenoble 2
Göttingen 2
Helsinki 2
Henderson 2
Hong Kong 2
Hyderabad 2
Istanbul 2
Kenmore 2
Kyiv 2
Leiden 2
Lekki 2
Louisville 2
Madison 2
Melbourne 2
Moscow 2
Muizenberg 2
Mumbai 2
New Delhi 2
Paterna del Campo 2
Pavia 2
Pescara 2
Philadelphia 2
Providence 2
Provo 2
Quezon City 2
Québec 2
Salisbury 2
San Andres 2
San Leandro 2
Scottsdale 2
Seoul 2
Stafford 2
University Park 2
Vancouver 2
Verrua Po 2
Vinnytsia 2
Wuhan 2
Abuja 1
Atlanta 1
Totale 873
Nome #
Deletion Extents are not the cause of clinical variability in 22q11.2 deletion syndrome: Does the interaction between DGCR8 and miRNA-CNVs play a major role?, file e0d6c929-9897-fcf8-e053-d805fe0aa794 131
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, file e0d6c92c-7c99-fcf8-e053-d805fe0aa794 114
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?, file e0d6c92c-a849-fcf8-e053-d805fe0aa794 104
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data, file e0d6c92c-ca5e-fcf8-e053-d805fe0aa794 91
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e0d6c92c-879e-fcf8-e053-d805fe0aa794 89
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency, file e0d6c92f-2639-fcf8-e053-d805fe0aa794 52
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?, file e0d6c92d-5d7c-fcf8-e053-d805fe0aa794 50
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, file e0d6c92e-3698-fcf8-e053-d805fe0aa794 49
Early neurodevelopmental characterization in children with cobalamin C/defect, file e0d6c92e-84b6-fcf8-e053-d805fe0aa794 48
Behavioural and emotional changes during covid-19 lockdown in an italian paediatric population with neurologic and psychiatric disorders, file e0d6c92f-cc1f-fcf8-e053-d805fe0aa794 46
CASK related disorder: Epilepsy and developmental outcome, file e0d6c931-9ae2-fcf8-e053-d805fe0aa794 44
Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review, file e0d6c931-5925-fcf8-e053-d805fe0aa794 32
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy, file e0d6c931-9057-fcf8-e053-d805fe0aa794 32
Suitability of external controls for drug evaluation in Duchenne muscular dystrophy, file e0d6c92f-b00f-fcf8-e053-d805fe0aa794 27
Expanding the natural history of CASK-related disorders to the prenatal period, file 8e7472c7-5fc7-4917-a747-c1f0b2d8cae4 26
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency, file e0d6c92f-7f0b-fcf8-e053-d805fe0aa794 24
New Technological Approach for the Evaluation of Postural Control Abilities in Children with Developmental Coordination Disorder, file 726f056a-9782-485c-8cd2-cc238a1ad64f 23
Expanding the clinical and genetic heterogeneity of SPAX5, file e0d6c92f-b11c-fcf8-e053-d805fe0aa794 23
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients, file dcf7f59e-ca0e-4d09-8b70-becde69ab3c2 22
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study, file e0d6c931-72ec-fcf8-e053-d805fe0aa794 18
Parental distress in the time of COVID-19: A cross-sectional study on pediatric patients with neuropsychiatric conditions during lockdown, file e0d6c931-943a-fcf8-e053-d805fe0aa794 15
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, file d53326c8-abe4-4576-8846-37a8f29e9630 14
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome, file e0d6c92e-3cb3-fcf8-e053-d805fe0aa794 14
Ngs in hereditary ataxia: When rare becomes frequent, file e0d6c931-7377-fcf8-e053-d805fe0aa794 14
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging, file e0d6c931-96c7-fcf8-e053-d805fe0aa794 14
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma, file 730b9e91-3432-4b00-8970-90c72d800be8 13
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease, file 73245c40-d829-43b5-b1db-423a07ca6ff2 13
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome, file c624d16c-12e8-4ecc-a745-fee1530c18c1 13
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: A case report, file e0d6c92f-91c7-fcf8-e053-d805fe0aa794 13
Age and sex prevalence estimate of Joubert syndrome in Italy, file e0d6c92f-9e0d-fcf8-e053-d805fe0aa794 13
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up, file e0d6c931-9436-fcf8-e053-d805fe0aa794 13
The role of preclinical models in creatine transporter deficiency: Neurobiological mechanisms, biomarkers and therapeutic development, file e0d6c931-943c-fcf8-e053-d805fe0aa794 13
Inter and intra-rater reliability and minimal detectable difference of movement disorder-childhood rating scale, file e0d6c92c-b454-fcf8-e053-d805fe0aa794 12
Natural history of KBG syndrome in a large European cohort, file 2788e3ef-7b7e-4052-95ba-b50f8f3847e9 11
A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With Tetrabenazine, file e0d6c931-7195-fcf8-e053-d805fe0aa794 11
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants, file e0d6c931-9997-fcf8-e053-d805fe0aa794 11
De novo 1q21.3q22 duplication revaluation in a “cold” complex neuropsychiatric case with syndromic intellectual disability, file e0d6c931-94f6-fcf8-e053-d805fe0aa794 10
Genetic modifiers of upper limb function in Duchenne muscular dystrophy, file f75f716c-f525-4d25-9a98-c2b56c2471c2 10
Clinical, molecular and glycophenotype insights in SLC39A8-CDG, file e0d6c931-9437-fcf8-e053-d805fe0aa794 9
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network, file 10b0e364-9f04-4fe6-8cb4-98820265c5d5 8
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review, file 83eaf539-3bfb-4336-b819-a97fb997dd17 8
Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum Disorder, file 950ab1e1-facd-42b0-bfe9-6403c0e78e6f 8
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers, file e0d6c92c-beee-fcf8-e053-d805fe0aa794 8
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52, file e0d6c92f-b00d-fcf8-e053-d805fe0aa794 8
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances, file 4bbd915d-588c-4228-aee1-c4d66aef6a3f 7
Lung ultrasound in young children with neurological impairment: A proposed integrative clinical tool for deaeration-detection related to feeding, file 824d5036-e289-49fb-b889-866006270028 7
Learning disabilities in neuromuscular disorders: a springboard for adult life, file e0d6c92c-b626-fcf8-e053-d805fe0aa794 7
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review, file e0d6c92d-ad74-fcf8-e053-d805fe0aa794 7
Parental Practices and Environmental Differences among Infants Living in Upper-Middle and High-Income Countries: A Cross-Sectional Study, file 09ba740b-36a1-4904-b67e-474498ef31d5 6
Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember, file 2240d6ff-ae88-4171-b7df-c6ea06e73565 6
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study, file 739b3731-5132-4aa3-88a5-d25bdb9ce35c 6
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53, file e0d6c92d-5d7f-fcf8-e053-d805fe0aa794 6
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), file e0d6c931-97e0-fcf8-e053-d805fe0aa794 6
Burden professional support and social network in families of children and young aduts with muscular dystrophies, file 5cafb566-b425-4821-ba12-5cb69718f814 5
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series, file c9c56b00-8328-4045-bfbf-33f5b99d3cc2 5
null, file e0d6c92d-5d81-fcf8-e053-d805fe0aa794 5
Novel translational phenotypes and biomarkers for creatine transporter deficiency, file e0d6c92f-d841-fcf8-e053-d805fe0aa794 5
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus, file e0d6c931-7193-fcf8-e053-d805fe0aa794 5
Post-Traumatic Stress Reactions in Caregivers of Children and Adolescents/Young Adults with Severe Diseases: A Systematic Review of Risk and Protective Factors, file b7715259-a500-41dc-a878-6c7c9e8d2b37 4
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase, file e0d6c92f-7ff4-fcf8-e053-d805fe0aa794 4
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5., file e0d6c930-755c-fcf8-e053-d805fe0aa794 4
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission, file e0d6c931-72f2-fcf8-e053-d805fe0aa794 4
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review, file 51201e8e-22e5-46a9-85e6-6c3fcf8348a3 3
Timed rise from floor as a Predictor od disease progression in Duchenne Muscular dystrophy: an Observational study, file e0d6c92c-7ca4-fcf8-e053-d805fe0aa794 3
null, file e0d6c92d-3ccc-fcf8-e053-d805fe0aa794 3
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome, file e0d6c92f-b009-fcf8-e053-d805fe0aa794 3
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts, file e0d6c930-b89a-fcf8-e053-d805fe0aa794 3
null, file d39848fc-049a-4d9d-894e-865b39f68ab4 2
Phosphorylation-dependent degradation of MEF2C contributes to regulate G2/m transition, file d60e903e-f060-48aa-b537-d88335d37d27 2
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy, file e0d6c92e-71e3-fcf8-e053-d805fe0aa794 2
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum, file e0d6c931-50e0-fcf8-e053-d805fe0aa794 2
Does 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations?, file 0e4008cd-bcd5-4e4f-abe9-4172a48f76b6 1
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy, file 0f237e37-b95a-4b34-bc05-632f31be9eec 1
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?, file 112c93dc-cd64-40ea-8579-757ff69b3522 1
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study, file 15be0502-4f8b-4481-9794-246713147050 1
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients, file 64f5defb-c9ce-4ce2-832b-fde2a0d76dba 1
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum, file 8d13c016-45ce-4b39-a90c-5aed6cc80b66 1
null, file d39d332f-4286-4105-bd4d-247f1defbdb9 1
Prenatal ultrasound and magnetic resonance features in a fetus with Walker-Warburg syndrome. Letters to the editor, file e0d6c92d-5858-fcf8-e053-d805fe0aa794 1
Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?, file e0d6c92d-67cb-fcf8-e053-d805fe0aa794 1
A novel IRF2BPL truncating variant is associated with endolysosomal storage, file e0d6c92e-84b3-fcf8-e053-d805fe0aa794 1
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy, file e0d6c930-a00d-fcf8-e053-d805fe0aa794 1
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome, file e0d6c930-c17c-fcf8-e053-d805fe0aa794 1
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias, file e0d6c931-492f-fcf8-e053-d805fe0aa794 1
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment, file e0d6c931-67a7-fcf8-e053-d805fe0aa794 1
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study, file e0d6c931-94f8-fcf8-e053-d805fe0aa794 1
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration, file e0d6c931-97e2-fcf8-e053-d805fe0aa794 1
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts, file e0d6c931-a80a-fcf8-e053-d805fe0aa794 1
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency, file e8eda7e0-c8c8-4072-9114-6cd484396309 1
Totale 1.461
Categoria #
all - tutte 5.139
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.139


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201919 0 0 0 0 0 0 0 0 5 3 6 5
2019/2020184 8 2 1 30 23 18 25 18 24 11 13 11
2020/2021153 11 10 9 17 10 11 19 12 16 8 19 11
2021/2022244 16 5 2 10 22 10 4 19 13 8 76 59
2022/2023393 7 31 59 53 34 26 47 42 22 27 37 8
2023/2024464 13 16 83 27 94 80 54 79 18 0 0 0
Totale 1.461