Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations-Reference-Cited by-同舟云学术

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Published:2020-03 Issue: Volume:104 Page:40-45
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

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 Chiara^ORCID,Tartaglia Marco

Funder

Fondazione Bambino Gesù

Italian Ministry of Health

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. Differential diagnosis of cerebellar atrophy in childhood: an update;Poretti;Neuropediatrics,2015

2. Hereditary ataxias: overview;Jayadev;Genet Med,2013

3. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications;Wilfert;Genome Med,2017

4. Contributions of T-type voltage-gated calcium channels to postsynaptic calcium signaling within Purkinje neurons;Isope;Cerebellum,2012

5. Disease causing mutations of calcium channels;Lorenzon;Channels,2008

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