Search Results - "Bertini ES"

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Authors: Failla P Muto V Lauri A et al.

Source: Brain : a journal of neurology [Brain] 2026 Jun 26. Date of Electronic Publication: 2026 Jun 26.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Authors: Radio FC Tasca G Coppens S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102558. Date of Electronic Publication: 2026 Mar 25.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.

Authors: Bello L Riguzzi P Albamonte E et al.

Source: Drugs in R&D [Drugs R D] 2025 Jun; Vol. 25 (2), pp. 99-106. Date of Electronic Publication: 2025 May 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 100883647 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-6901 (Electronic) Linking ISSN: 11745886 NLM ISO Abbreviation: Drugs R D 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

A comprehensive framework for the interpretation of TTN missense variants.

Authors: Di Feo MF Rees M Lillback V et al.

Corporate Authors: Di Feo MF Rees M Lillback V et al.

Source: Genome medicine [Genome Med] 2026 Feb 26; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.

Authors: Martin S Kyosovska-Peshtenska G Audi J et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jan 08; Vol. 21 (1), pp. 27. Date of Electronic Publication: 2026 Jan 08.

Publication Type: Systematic Review; Journal Article; Review

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

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.

Authors: Mei C Magliocca V Chen X et al.

Source: Frontiers in cellular neuroscience [Front Cell Neurosci] 2025 Mar 11; Vol. 19, pp. 1523773. Date of Electronic Publication: 2025 Mar 11 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Authors: D'Abrusco F Gana S Alfei E et al.

Source: Journal of medical genetics [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 794-797. Date of Electronic Publication: 2025 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

A clinical and genotype-phenotype analysis of MACF1 variants.

Authors: Dekker J Schot R Aldinger KA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

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

The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.

Authors: Lavorgna L Maida E Reinhard C et al.

Corporate Authors: Lavorgna L Maida E Reinhard C et al.

Source: Telemedicine journal and e-health : the official journal of the American Telemedicine Association [Telemed J E Health] 2024 Sep; Vol. 30 (9), pp. 2419-2430. Date of Electronic Publication: 2024 Jul 01.

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

Journal Info: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 100959949 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3669 (Electronic) Linking ISSN: 15305627 NLM ISO Abbreviation: Telemed J E Health Subsets: MEDLINE

Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.

Authors: Pane M Bertini ES Russo E et al.

Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2024 Sep; Vol. 43 (3), pp. 95-101.

Publication Type: Journal Article

Journal Info: Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: Print Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Authors: Sartorelli J Travaglini L Macchiaiolo M et al.

Source: Genes [Genes (Basel)] 2024 Apr 18; Vol. 15 (4). Date of Electronic Publication: 2024 Apr 18.

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

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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Authors: Greene D Mendez R Lees J et al.

Corporate Authors: Greene D Mendez R Lees J et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Aug 29. Date of Electronic Publication: 2025 Aug 29.

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

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Authors: Carli S Levarlet A Diodato D et al.

Source: Neurology [Neurology] 2025 Apr; Vol. 104 (7), pp. e213462. Date of Electronic Publication: 2025 Mar 20.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

Authors: Macchiaiolo M Panfili FM Vecchio D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2920-2931. Date of Electronic Publication: 2022 Jul 23.

Publication Type: Case Reports; Journal Article; Review

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

Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

Authors: Petrini S Bagnato G Piccione M et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 13; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Authors: De Dominicis A Stregapede F Colona VL et al.

Source: Seizure [Seizure] 2024 Oct; Vol. 121, pp. 141-146. Date of Electronic Publication: 2024 Aug 17.

Publication Type: Journal Article; Case Reports

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

CAPRIN1^P512L causes aberrant protein aggregation and associates with early-onset ataxia.

Authors: Delle Vedove A Natarajan J Zanni G et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2022 Sep 22; Vol. 79 (10), pp. 526. Date of Electronic Publication: 2022 Sep 22.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.

Authors: Romano S Bacigalupo I Marcotulli C et al.

Source: Neuroepidemiology [Neuroepidemiology] 2022; Vol. 56 (3), pp. 212-218. Date of Electronic Publication: 2022 May 30.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 8218700 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0208 (Electronic) Linking ISSN: 02515350 NLM ISO Abbreviation: Neuroepidemiology Subsets: MEDLINE

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

Authors: Berti B Verrigni D Nasca A et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 16; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 16.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE