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Publications by Alex Medina Escobar

Dystonia in a Patient With Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene

Movement Disorders Clinical Practice

English

Related publications

Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient

Canadian Journal of Ophthalmology

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

English

Impairment of Mitochondrial tRNAIle Processing by a Novel Mutation Associated With Chronic Progressive External Ophthalmoplegia

Molecular Medicine

Molecular Biology

English

A Patient With a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English

Multiple Deletions in Mitochondrial DNA in a Patient With Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

Internal Medicine

Internal Medicine

English

Chronic Progressive External Ophthalmoplegia

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English