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

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Bibliographic Details
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
Description
ISSN:1473-4230
DOI:10.1007/s12311-025-01938-4