A novel locus for episodic ataxia:UBR4 the likely candidate

Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

(2012) Angelo Labate et al.   EPILEPSIA

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

(2012) A. R. Gardiner et al.   NEUROLOGY

Altered Purkinje cell responses and calmodulin expression in the spontaneously ataxic mouse, Pogo

(2011) Kwan Young Lee et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Management of vestibular migraine

(2011) Alexandre R. Bisdorff   Therapeutic Advances in Neurological Disorders

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Multifunctionality of extracellular and cell surface heparan sulfate proteoglycans

(2009) Catherine Kirn-Safran et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Benzodiazepines in epilepsy: pharmacology and pharmacokinetics

(2008) J. Riss et al.   ACTA NEUROLOGICA SCANDINAVICA

Protein 600 Is a Microtubule/Endoplasmic Reticulum-Associated Protein in CNS Neurons

(2008) S. Y. Shim et al.   JOURNAL OF NEUROSCIENCE

Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state

(2008) Lea Munthe-Fog et al.   MOLECULAR IMMUNOLOGY