Eric Hoffman
Affiliations: | 1986-1990 | Childrens National Medical Center, Washington DC |
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| Oates EC, Jones KJ, Donkervoort S, et al. (2018) Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology |
| Hogarth MW, Houweling PJ, Thomas KC, et al. (2017) Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy. Nature Communications. 8: 14143 |
| Punetha J, Kesari A, Uapinyoying P, et al. (2016) Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. Journal of Neuromuscular Diseases. 3: 209-225 |
| O'Grady GL, Lek M, Lamande SR, et al. (2016) Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology |
| O'Grady GL, Best HA, Oates EC, et al. (2015) Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. European Journal of Human Genetics : Ejhg. 23: 883-6 |
| Carss KJ, Stevens E, Foley AR, et al. (2013) Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 93: 29-41 |
| Clarke NF, Amburgey K, Teener J, et al. (2013) A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders : Nmd. 23: 432-6 |