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Publications by Angela Pyle

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

Brain
MedicineNeurology
2012English

Mitochondrial DNA Changes in Pedunculopontine Cholinergic Neurons in Parkinson's

Annals of Neurology
Neurology
2017English

Fall in Circulating Mononuclear Cell Mitochondrial DNA Content in Human Sepsis

Intensive Care Medicine
Critical CareIntensive Care Medicine
2010English

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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