Search Results - "Nicita F"

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Early-onset absence epilepsy: SLC2 A1 gene analysis and treatment evolution.

Authors: Agostinelli, S. Traverso, M. Accorsi, P. et al.

Source: European Journal of Neurology. May2013, Vol. 20 Issue 5, p856-859. 4p. 1 Chart.

Subjects: Treatment of epilepsy, Anticonvulsants, Febrile seizures, Family history (Medicine), Quantitative research, Neurologic examination, Brain imaging

Epileptic nystagmus: Description of a pediatric case with EEG correlation and SPECT findings

Authors: Nicita, F. Papetti, L. Spalice, A. et al.

Source: Journal of the Neurological Sciences. Nov2010, Vol. 298 Issue 1/2, p127-131. 5p.

Immunotherapy in Rasmussen's encephalitis: when should it be taken into account?

Authors: Papetti, L. Spalice, A. Nicita, F. et al.

Source: Neurological Sciences. Jul2013, Vol. 34 Issue 7, p1247-1248. 2p.

Subjects: Chronic encephalitis, Immunotherapy, Epilepsy, Immunoglobulins, Glycoproteins, Immunological adjuvants, Pathological physiology, Therapeutics

Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

Authors: Versaevel, N. R. A. Chapleau, A. Topaloğlu, P. et al.

Source: Neuropediatrics. Jun2026, Vol. 57 Issue 3, p186-192. 7p.

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.

Authors: Zanni, G. D'Abrusco, F. Nicita, F. et al.

Source: Cerebellum. Aug2022, Vol. 21 Issue 4, p525-530. 6p.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study.

Authors: De Liso, P. Vigevano, F. Specchio, N. et al.

Source: Epilepsy Research. Nov2016, Vol. 127, p93-100. 8p.

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Authors: Ruggieri, M. Polizzi, A. Spalice, A. et al.

Source: Clinical Genetics. May2015, Vol. 87 Issue 5, p401-410. 10p. 2 Color Photographs, 2 Black and White Photographs, 1 Chart.

Evaluation and management of nonsyndromic craniosynostosis.

Authors: Ursitti, F. Fadda, T. Papetti, L. et al.

Source: Acta Paediatrica. Sep2011, Vol. 100 Issue 9, p1185-1194. 10p.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

Authors: Fluri R Coll-Tané M Brunet T et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 19. Date of Electronic Publication: 2026 Jun 19.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Authors: Vaia Y Arrigoni F Sira LB et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun 15; Vol. 148 (4), pp. 110189. Date of Electronic Publication: 2026 Jun 15.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Authors: Sartorelli J Sgobbi P Battini R et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109873. Date of Electronic Publication: 2026 Mar 04.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

SIGLEC-1 expression on monocytes as a diagnostic biomarker in pediatric type I interferon-mediated diseases.

Authors: Matteo V Zeric H Loricchio E et al.

Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 Jun; Vol. 157 (6), pp. 1433-1441. Date of Electronic Publication: 2026 Feb 18.

Publication Type: Journal Article

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Authors: Marinella G Vaia Y Politano D et al.

Corporate Authors: Marinella G Vaia Y Politano D et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109907. Date of Electronic Publication: 2026 Mar 19.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Authors: Colona VL Gnazzo M Genovese S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 929-936. Date of Electronic Publication: 2025 Nov 26.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Authors: Sevagamoorthy A Woidill S Sudilovsky G et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jul; Vol. 148 (3), pp. 110154. Date of Electronic Publication: 2026 May 15.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Efficacy of retrograde revascularization in diabetic patients with chronic limb-threatening ischemia after a failed antegrade approach.

Authors: Nezzo M Meloni M Carini A et al.

Source: Vascular [Vascular] 2025 Jun; Vol. 33 (3), pp. 717-724. Date of Electronic Publication: 2024 May 30.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 101196722 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-539X (Electronic) Linking ISSN: 17085381 NLM ISO Abbreviation: Vascular Subsets: MEDLINE

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Authors: De Dominicis A Stregapede F Trivisano M et al.

Source: Epilepsia [Epilepsia] 2025 May; Vol. 66 (5), pp. 1751-1754. Date of Electronic Publication: 2025 Mar 28.

Publication Type: Letter

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE; In Process

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.

Authors: Sartorelli J Petrillo S De Luca G et al.

Source: Journal of the neurological sciences [J Neurol Sci] 2026 Mar 15; Vol. 482, pp. 125788. Date of Electronic Publication: 2026 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Authors: Le A Thibault KA Yazdani PA et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Mar; Vol. 176, pp. 31-40. Date of Electronic Publication: 2025 Dec 16.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE