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Publications by Helen Griffin

Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

Cell
BiochemistryGeneticsMolecular Biology
2014English

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

Brain
MedicineNeurology
2012English

Abnormal Retinal Thickening Is a Common Feature Among Patients With ARSACS-related Phenotypes: Table 1

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2014English

Respiratory Chain Deficiency in Nonmitochondrial Disease

Neurology: Genetics
NeurologyGenetics
2015English

Phenotypic Convergence of Menkes and Wilson Disease

Neurology: Genetics
NeurologyGenetics
2016English

Whole Exome Sequencing and the Clinician: We Need Clinical Skills and Functional Validation in Variant Filtering

Journal of Neurology
Neurology
2015English

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

Journal of Neurogenetics
Molecular NeuroscienceGeneticsCellular
2013English

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