Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies
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Title
Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies
Authors
Keywords
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Journal
BRAIN
Volume 138, Issue 8, Pages 2161-2172
Publisher
Oxford University Press (OUP)
Online
2015-06-14
DOI
10.1093/brain/awv158
References
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Related references
Note: Only part of the references are listed.- Recent advances in Charcot–Marie–Tooth disease
- (2014) Jonathan Baets et al. CURRENT OPINION IN NEUROLOGY
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- (2014) Maria Schabhüttl et al. JOURNAL OF NEUROLOGY
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- (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
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- Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
- (2012) Erik G. Puffenberger et al. PLoS One
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- (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
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- (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
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- (2010) Philippe Latour et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- A method and server for predicting damaging missense mutations
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- (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
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