Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies

Recent advances in Charcot–Marie–Tooth disease

(2014) Jonathan Baets et al.   CURRENT OPINION IN NEUROLOGY

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

(2014) Maria Schabhüttl et al.   JOURNAL OF NEUROLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

(2013) Rachel C Wallen et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

(2013) Michael Gonzalez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

(2012) Aimée Vester et al.   HUMAN MUTATION

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

(2012) Z. Zhao et al.   NEUROLOGY

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

(2011) Heather M. McLaughlin et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

(2011) William W. Motley et al.   PLoS Genetics

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

(2010) Morgane Stum et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

GARS axonopathy: not every neuron's cup of tRNA

(2010) William W. Motley et al.   TRENDS IN NEUROSCIENCES

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics