TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Anti Transglutaminase Antibodies Cause Ataxia in Mice

(2010) Sabrina Boscolo et al.   PLoS One

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

De novo assembly of human genomes with massively parallel short read sequencing

(2009) R. Li et al.   GENOME RESEARCH

Transglutaminases and neurodegeneration

(2009) Thomas M. Jeitner et al.   JOURNAL OF NEUROCHEMISTRY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase

(2008) Marios Hadjivassiliou et al.   ANNALS OF NEUROLOGY

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH