Search Results - "Vari MS"

Is cognitive profiling in NF1 still optional? A systematic review of current assessment practices.

Authors: Santangelo A Sardi A Bergonzini L et al.

Source: Frontiers in neurology [Front Neurol] 2026 Apr 30; Vol. 17, pp. 1794510. Date of Electronic Publication: 2026 Apr 30 (Print Publication: 2026).

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Authors: Mariano D Petrone V Madia F et al.

Source: Children (Basel, Switzerland) [Children (Basel)] 2026 Apr 27; Vol. 13 (5). Date of Electronic Publication: 2026 Apr 27.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE

First demyelinating attack in children: A twelve year single center cohort.

Authors: Santagostino Barbone A Giacomini T Casabona S et al.

Source: Multiple sclerosis and related disorders [Mult Scler Relat Disord] 2026 Apr; Vol. 108, pp. 107026. Date of Electronic Publication: 2026 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B. V Country of Publication: Netherlands NLM ID: 101580247 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-0356 (Electronic) Linking ISSN: 22110348 NLM ISO Abbreviation: Mult Scler Relat Disord Subsets: MEDLINE

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.

Authors: Riva A D'Onofrio G Amadori E et al.

Source: Epilepsia [Epilepsia] 2026 Feb; Vol. 67 (2), pp. 542-556. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article; Review

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

A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.

Authors: Roberti R Riva A D'Onofrio G et al.

Source: Expert review of neurotherapeutics [Expert Rev Neurother] 2024 Feb; Vol. 24 (2), pp. 133-138. Date of Electronic Publication: 2024 Feb 06.

Publication Type: Editorial

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101129944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8360 (Electronic) Linking ISSN: 14737175 NLM ISO Abbreviation: Expert Rev Neurother Subsets: MEDLINE

A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

Authors: Riva A Roberti R D'Onofrio G et al.

Source: Epilepsia open [Epilepsia Open] 2023 Sep; Vol. 8 (3), pp. 1142-1150. Date of Electronic Publication: 2023 May 15.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Neuroimaging Features of Biotinidase Deficiency.

Authors: Biswas A McNamara C Gowda VK et al.

Source: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Mar; Vol. 44 (3), pp. 328-333. Date of Electronic Publication: 2023 Feb 09.

Publication Type: Journal Article

Journal Info: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Authors: Borgia P Baldassari S Pedemonte N et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 286. Date of Electronic Publication: 2022 Jul 19.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

Authors: Orsini A Santangelo A Bravin F et al.

Source: Genes [Genes (Basel)] 2022 Jan 30; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 30.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Authors: Chen S Abou-Khalil BW Afawi Z et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.

Authors: Riva A Golda A Balagura G et al.

Source: Frontiers in neurology [Front Neurol] 2021 Dec 07; Vol. 12, pp. 753753. Date of Electronic Publication: 2021 Dec 07 (Print Publication: 2021).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Authors: Perinelli MG Naboni C Balagura G et al.

Source: Neurology. Clinical practice [Neurol Clin Pract] 2024 Jun; Vol. 14 (3), pp. e200287. Date of Electronic Publication: 2024 Apr 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE

mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data.

Authors: Celli R Striano P Citraro R et al.

Corporate Authors: Celli R Striano P Citraro R et al.

Source: Current neuropharmacology [Curr Neuropharmacol] 2023; Vol. 21 (1), pp. 105-118.

Publication Type: Journal Article

Journal Info: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 101157239 Publication Model: Print Cited Medium: Internet ISSN: 1875-6190 (Electronic) Linking ISSN: 1570159X NLM ISO Abbreviation: Curr Neuropharmacol Subsets: MEDLINE

Current and promising therapeutic options for Dravet syndrome.

Authors: Riva A D'Onofrio G Amadori E et al.

Source: Expert opinion on pharmacotherapy [Expert Opin Pharmacother] 2022 Oct; Vol. 23 (15), pp. 1727-1736. Date of Electronic Publication: 2022 Sep 21.

Publication Type: Review; Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 100897346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7666 (Electronic) Linking ISSN: 14656566 NLM ISO Abbreviation: Expert Opin Pharmacother Subsets: MEDLINE

Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.

Authors: Signa S Brolatti N Trincianti C et al.

Source: Neurology. Clinical practice [Neurol Clin Pract] 2022 Oct; Vol. 12 (5), pp. e124-e128.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

Authors: Aiello S Mancardi MM Romano A et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Sep; Vol. 40, pp. 69-72. Date of Electronic Publication: 2022 Aug 18.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series.

Authors: Ronzano N Scala M Abiusi E et al.

Source: Seizure [Seizure] 2022 Aug; Vol. 100, pp. 82-86. Date of Electronic Publication: 2022 Jun 24.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Authors: Falsaperla R Vari MS Toldo I et al.

Corporate Authors: Falsaperla R Vari MS Toldo I et al.

Source: Metabolic brain disease [Metab Brain Dis] 2018 Feb; Vol. 33 (1), pp. 261-269. Date of Electronic Publication: 2017 Nov 25.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Authors: Cappuccio G Pinelli M Alagia M et al.

Source: PloS one [PLoS One] 2017 Sep 29; Vol. 12 (9), pp. e0184022. Date of Electronic Publication: 2017 Sep 29 (Print Publication: 2017).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus.

Authors: Riva A Amadori E Vari MS et al.

Corporate Authors: Riva A Amadori E Vari MS et al.

Source: Italian journal of pediatrics [Ital J Pediatr] 2022 Jul 19; Vol. 48 (1), pp. 118. Date of Electronic Publication: 2022 Jul 19.

Publication Type: Journal Article; Consensus Statement

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE