Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

Cell organization, growth, and neural and cardiac development require  II-spectrin

(2011) M. C. Stankewich et al.   JOURNAL OF CELL SCIENCE

 -III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine Morphogenesis

(2011) Y. Gao et al.   JOURNAL OF NEUROSCIENCE

When Is the Hippocampus Involved in Recognition Memory?

(2011) G. R. I. Barker et al.   JOURNAL OF NEUROSCIENCE

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

(2010) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

 -III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

(2010) Y. L. Clarkson et al.   HUMAN MOLECULAR GENETICS

Loss of  -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

(2010) E. M. Perkins et al.   JOURNAL OF NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

SCA5 OR LINCOLN ATAXIA?

(2010) J. J. Higgins   NEUROLOGY

ABRAHAM LINCOLN MAY HAVE HAD SCA TYPE 5

(2010) L. P. W. Ranum et al.   NEUROLOGY

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

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

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

Targeted deletion of  III spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes

(2010) M. C. Stankewich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The spectrin–ankyrin–4.1–adducin membrane skeleton: adapting eukaryotic cells to the demands of animal life

(2010) Anthony J. Baines   PROTOPLASMA

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Distinct contributions of the hippocampus and medial prefrontal cortex to the “what–where–when” components of episodic-like memory in mice

(2009) Loren M. DeVito et al.   BEHAVIOURAL BRAIN RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Molecular Epitopes of the Ankyrin−Spectrin Interaction†

(2008) Jonathan J. Ipsaro et al.   BIOCHEMISTRY

mGluR5 Regulates Glutamate-Dependent Development of the Mouse Somatosensory Cortex

(2008) L. S. Wijetunge et al.   JOURNAL OF NEUROSCIENCE

Hereditary spherocytosis

(2008) Silverio Perrotta et al.   LANCET