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VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

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Title: VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
Authors: de Mendonça RS; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil. resilvamendonca@gmail.com.; Av. Enéas Dr. Carvalho Aguiar, São Paulo, 255-5011, CEP 05403- 000, Brazil. resilvamendonca@gmail.com., Arruda Santana AB; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., Azzoni ABM; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., de Almeida ALV; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., Castro MAA; Neurogenetics Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., Lucato LT; Neuroradiology Division, Department of Radiology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., Kok F; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., de Gusmao CM; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Source: Cerebellum (London, England) [Cerebellum] 2025 Nov 25; Vol. 24 (6), pp. 183. Date of Electronic Publication: 2025 Nov 25.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
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  Data: <searchLink fieldCode="AU" term="%22de+Mendonça+RS%22">de Mendonça RS</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil. resilvamendonca@gmail.com.; Av. Enéas Dr. Carvalho Aguiar, São Paulo, 255-5011, CEP 05403- 000, Brazil. resilvamendonca@gmail.com.<br /><searchLink fieldCode="AU" term="%22Arruda+Santana+AB%22">Arruda Santana AB</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Azzoni+ABM%22">Azzoni ABM</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Almeida+ALV%22">de Almeida ALV</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Neurogenetics Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Lucato+LT%22">Lucato LT</searchLink>; Neuroradiology Division, Department of Radiology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Gusmao+CM%22">de Gusmao CM</searchLink>; Child Neurology Division, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
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  Data: <searchLink fieldCode="JN" term="%22101089443%22">Cerebellum (London, England)</searchLink> [Cerebellum] 2025 Nov 25; Vol. 24 (6), pp. 183. <i>Date of Electronic Publication: </i>2025 Nov 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101089443 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-4230 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214734222%22">14734222 </searchLink><i>NLM ISO Abbreviation: </i>Cerebellum <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s12311-025-01938-4
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              Text: 2025 Nov 25
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