Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Author:

Barresi Sabina,Dentici Maria Lisa,Manzoni Francesca,Bellacchio Emanuele,Agolini Emanuele,Pizzi Simone,Ciolfi Andrea,Tarnopolsky Mark,Brady Lauren,Garone Giacomo,Novelli Antonio,Mei Davide,Guerrini Renzo,Capuano Alessandro,Pantaleoni ChiaraORCID,Tartaglia Marco

Funder

Fondazione Bambino Gesù

Italian Ministry of Health

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. What have genetic studies of rare sequence variants taught us about the aetiology of schizophrenia?;Journal of Translational Genetics and Genomics;2024-01-11

2. The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice;JCI Insight;2023-10-23

3. T‐type calcium channels as therapeutic targets in essential tremor and Parkinson's disease;Annals of Clinical and Translational Neurology;2023-02-04

4. The emergence of genotypic divergence and future precision medicine applications;Precision Medicine in Neurodegenerative Disorders, Part I;2023

5. CACNA1D-Related Channelopathies: From Hypertension to Autism;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023

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