25 results on '"Nicita, Francesco"'
Search Results
2. “Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
3. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
4. An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype
5. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
6. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia
7. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
8. Reply to “Post-surgical mutism and catatonia”
9. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
10. Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study
11. Beverage consumption and paediatric NAFLD
12. Stroke and migraine is there a possible comorbidity?
13. Neurological features of 14q24-q32 interstitial deletion: report of a new case
14. Severe early onset ethylmalonic encephalopathy with West syndrome
15. Evaluation of the basal ganglia in neurofibromatosis type 1
16. Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations
17. Natural history of neurofibromatosis type 2 with onset before the age of 1 year
18. Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma
19. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features
20. Fiber tractography assessment in double cortex syndrome
21. Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome
22. Developmental anomalies of the medial septal area: possible implication for limbic epileptogenesis
23. Usefulness of diffusion tensor imaging and fiber tractography in neurological and neurosurgical pediatric diseases
24. Migraine treatment in developmental age: guidelines update
25. Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke
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