Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

(2021) Christel Depienne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Milestones in genetics of cerebellar ataxias

(2021) Magdalena Krygier et al.   NEUROGENETICS

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study

(2020) Michael Strupp et al.   CEREBELLUM

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Large scale in silico characterization of repeat expansion variation in human genomes

(2020) Sarah Fazal et al.   Scientific Data

Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders

(2017) Jessica Di Re et al.   Frontiers in Cellular Neuroscience

The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type

(2015) David J. Lin et al.   CEREBELLUM

Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

(2015) Mario A. Saporta et al.   EXPERIMENTAL NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

(2015) Michael Gonzalez et al.   HUMAN MUTATION

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance

(2015) M. K. Bosch et al.   JOURNAL OF NEUROSCIENCE

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

(2015) Karine Choquet et al.   NEUROGENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons

(2014) Haidun Yan et al.   eLife

FGF14 localization and organization of the axon initial segment

(2013) Maolei Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons

(2008) Vikram G. Shakkottai et al.   NEUROBIOLOGY OF DISEASE