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Publications by J P Masucci

In Vitro Analysis of Mutations Causing Myoclonus Epilepsy With Ragged-Red Fibers in the Mitochondrial tRNA(Lys)gene: Two Genotypes Produce Similar Phenotypes.

Molecular and Cellular Biology
Cell BiologyMolecular Biology
1995English

Related publications

Phenotypic Diversity of Myoclonus Epilepsy Associated With Ragged-Red Fibers With an 8344A>G mtDNA Mutation

Internal Medicine
Internal MedicineMedicine
2019English

Falling After Starting Running in a Case of Myoclonus Epilepsy Associated With Ragged-Red Fibers With a 8344A>G mtDNA Mutation

Internal Medicine
Internal MedicineMedicine
2018English

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients With Myoclonic Epilepsy With Ragged-Red Fibers Due to Mitochondrial A8344G Mutation

American Journal of Neuroradiology
MedicineNuclear MedicineNeurologyImagingRadiology
2008English

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

Frontiers in Neurology
Neurology
2018English

Defective Kinetics of Cytochrome C Oxidase and Alteration of Mitochondrial Membrane Potential in Fibroblasts and Cytoplasmic Hybrid Cells With the Mutation for Myoclonus Epilepsy With Ragged-Red Fibres (‘MERRF’) at Position 8344 Nt

Biochemical Journal
BiochemistryCell BiologyMolecular Biology
1999English

Infantile Epilepsy With Multifocal Myoclonus Caused by TBC1D24 Mutations

Seizure : the journal of the British Epilepsy Association
MedicineNeurology
2019English

Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American Journal of Human Genetics
Genetics
2011English

Unstable Mutations in the FMR1 Gene and the Phenotypes

Advances in Experimental Medicine and Biology
BiochemistryMedicineGeneticsMolecular Biology
2012English

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