Late onset spinal motor neuronopathy is caused by mutation inCHCHD10

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

(2014) Kristien Peeters et al.   BRAIN

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

(2014) Kathrin Müller et al.   BRAIN

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Charcot-Marie-Tooth Disease Type 2A

(2014) Francesco Bombelli et al.   JAMA Neurology

Late-onset spinal motor neuronopathy – A common form of dominant SMA

(2013) Sini Penttilä et al.   NEUROMUSCULAR DISORDERS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2

(2012) Sini Penttilä et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CHCM1/CHCHD6, Novel Mitochondrial Protein Linked to Regulation of Mitofilin and Mitochondrial Cristae Morphology

(2012) Jie An et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Late-onset lower motor neuronopathy: A new autosomal dominant disorder

(2011) M. Jokela et al.   NEUROLOGY

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association

(2010) Ruben S.R.M. Martherus et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

ChChd3, an Inner Mitochondrial Membrane Protein, Is Essential for Maintaining Crista Integrity and Mitochondrial Function

(2010) Manjula Darshi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

(2010) P. Solla et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

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

The coiled coil-helix-coiled coil-helix proteins may be redox proteins

(2009) Lucia Banci et al.   FEBS LETTERS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS