4.5 Article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Article Clinical Neurology

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

Adam L. Boxer et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Clinical Neurology

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

Hannu Laaksovirta et al.

LANCET NEUROLOGY (2010)

Article Genetics & Heredity

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions

Vivianna M. Van Deerlin et al.

NATURE GENETICS (2010)

Article Multidisciplinary Sciences

A cancer-associated DNA polymerase δ variant modeled in yeast causes a catastrophic increase in genomic instability

Danielle L. Daee et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Manuela Neumann et al.

SCIENCE (2006)

Article Multidisciplinary Sciences

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

Rahul N. Kanadia et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Biochemistry & Molecular Biology

Nuclease-deficient FEN-1 blocks rad51/BRCA1-mediated repair and causes trinucleotide repeat instability

C Spiro et al.

MOLECULAR AND CELLULAR BIOLOGY (2003)

Article Biochemistry & Molecular Biology

Y chromosome evidence for Anglo-Saxon mass migration

ME Weale et al.

MOLECULAR BIOLOGY AND EVOLUTION (2002)

Review Clinical Neurology

The role of hypothermia in the management of severe brain injury. A meta-analysis

OA Harris et al.

ARCHIVES OF NEUROLOGY (2002)

Article Biochemical Research Methods

DMLE+: Bayesian linkage disequilibrium gene mapping

JP Reeve et al.

BIOINFORMATICS (2002)

Article Genetics & Heredity

Using linked markers to infer the age of a mutation

B Rannala et al.

HUMAN MUTATION (2001)

Article Clinical Neurology

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

BR Brooks et al.

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)

Article Biochemistry & Molecular Biology

Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion

LA Henricksen et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)