Search Results - "Serpieri V"

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.

KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.

Authors: Politano D Gana S Orcesi S et al.

Source: Neurology. Genetics [Neurol Genet] 2026 May 12; Vol. 12 (3), pp. e200395. Date of Electronic Publication: 2026 May 12 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.

Authors: Aresi C Tonelli F Mazzotta C et al.

Source: European journal of clinical investigation [Eur J Clin Invest] 2026 May; Vol. 56 (5), pp. e70220.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0245331 Publication Model: Print Cited Medium: Internet ISSN: 1365-2362 (Electronic) Linking ISSN: 00142972 NLM ISO Abbreviation: Eur J Clin Invest Subsets: MEDLINE

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Authors: Serpieri V Vezain-Mouchard M Orsi A et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 600-615. Date of Electronic Publication: 2026 Feb 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

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Authors: Boutaud L Li C Moncler C et al.

Source: Clinical genetics [Clin Genet] 2026 Feb; Vol. 109 (2), pp. 305-315. Date of Electronic Publication: 2025 Aug 21.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification.

Authors: Wiegering A Anselme I Brunetti L et al.

Source: Nature communications [Nat Commun] 2025 Apr 05; Vol. 16 (1), pp. 3258. Date of Electronic Publication: 2025 Apr 05.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: 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

The relevance of primary cilia in neurological disorders.

Authors: Serpieri V D'Abrusco F Valente EM

Source: The Lancet. Neurology [Lancet Neurol] 2025 Sep; Vol. 24 (9), pp. 763-775. Date of Electronic Publication: 2025 Jul 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Visual function in children with Joubert syndrome.

Authors: Morelli F Toni F Saligari E et al.

Corporate Authors: Morelli F Toni F Saligari E et al.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Mar; Vol. 66 (3), pp. 379-388. Date of Electronic Publication: 2023 Aug 18.

Publication Type: Review; Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Authors: Schröder S Yigit G Li Y et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2023 May 02.

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

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

Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.

Authors: Gana S Serpieri V Giorgio E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1395-1400. Date of Electronic Publication: 2023 Feb 09.

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

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

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Authors: D'Abrusco F Serpieri V Taccagni CM et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 72-79. Date of Electronic Publication: 2024 Oct 11.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Authors: D'Abrusco F Arrigoni F Serpieri V et al.

Source: Cerebellum (London, England) [Cerebellum] 2022 Dec; Vol. 21 (6), pp. 1144-1150. Date of Electronic Publication: 2021 Nov 30.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Genotype-phenotype correlates in Joubert syndrome: A review.

Authors: Gana S Serpieri V Valente EM

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Mar; Vol. 190 (1), pp. 72-88. Date of Electronic Publication: 2022 Mar 03.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus.

Authors: Orsi A Serpieri V Mazzotta C et al.

Source: Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103332. Date of Electronic Publication: 2024 Feb 08.

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

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

Authors: Ruberto G Parisi V Bertone C et al.

Source: Advances in therapy [Adv Ther] 2021 Jan; Vol. 38 (1), pp. 278-289. Date of Electronic Publication: 2020 Oct 24.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Authors: Ruberto G Parisi V Bertone C et al.

Source: Advances in therapy [Adv Ther] 2020 Sep; Vol. 37 (9), pp. 3827-3838. Date of Electronic Publication: 2020 Jul 15.

Publication Type: Comparative Study; Journal Article; Observational Study

Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

Authors: Serpieri V Mortarini G Loucks H et al.

Source: Journal of medical genetics [J Med Genet] 2023 Sep; Vol. 60 (9), pp. 885-893. Date of Electronic Publication: 2023 Feb 14.

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

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

A novel IRF2BPL truncating variant is associated with endolysosomal storage.

Authors: Ginevrino M Battini R Nuovo S et al.

Source: Molecular biology reports [Mol Biol Rep] 2020 Jan; Vol. 47 (1), pp. 711-714. Date of Electronic Publication: 2019 Oct 03.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate.

Authors: Vitale L Serpieri V Lauriola M et al.

Source: Journal of cellular physiology [J Cell Physiol] 2019 Sep; Vol. 234 (9), pp. 15010-15024. Date of Electronic Publication: 2019 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0050222 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4652 (Electronic) Linking ISSN: 00219541 NLM ISO Abbreviation: J Cell Physiol Subsets: MEDLINE; PubMed not MEDLINE