796 results on '"BATTINI, ROBERTA"'
Search Results
2. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
3. Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias
4. Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study
5. Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience
6. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study
7. Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
8. SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome
9. European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
10. Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
11. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
12. The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children
13. Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness
14. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
15. Early Diagnosis of AP5Z1 /SPG48 Spastic Paraplegia: Case Report and Review of the Literature.
16. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
17. Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature
18. Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
19. Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study
20. NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
21. Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping
22. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
23. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
24. Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
25. Neuroimaging patterns in paediatric onset hereditary spastic paraplegias
26. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
27. CASK related disorder: Epilepsy and developmental outcome
28. Children and Young Adults with Epilepsy Exhibit an Interictal Autonomic Dysfunction: A Prospective Exploratory Study.
29. Magnetic resonance fingerprinting‐based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies.
30. Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
31. Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children
32. Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae
33. Clinical, molecular and glycophenotype insights in SLC39A8-CDG
34. Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
35. A novel IRF2BPL truncating variant is associated with endolysosomal storage
36. Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study.
37. European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry
38. Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
39. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
40. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
41. Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
42. DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review
43. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
44. Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
45. Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
46. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
47. Age and sex prevalence estimate of Joubert syndrome in Italy
48. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
49. Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral Palsy
50. Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome
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