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Publications by Gráinne S. Gorman

Identification of a Novel Heterozygous Guanosine Monophosphate Reductase ( GMPR ) Variant in a Patient With a Late‐onset Disorder of Mitochondrial DNA Maintenance

Clinical Genetics

Genetics

2019

English

Consensus-Based Statements for the Management of Mitochondrial Stroke-Like Episodes

Wellcome Open Research

English

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A Novel ISCA2 Variant Responsible for an Early-Onset Neurodegenerative Mitochondrial Disorder: A Case Report of Multiple Mitochondrial Dysfunctions Syndrome 4

English

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

Human Genome Variation

English

A Novel Heterozygous ANO3 Mutation With Basal Ganglia Dysfunction in a Patient With Adult-Onset Isolated Segmental Dystonia

Journal of Clinical Neurology (Korea

Neurology

2018

English

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports

English

Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

Frontiers in Neurology

Neurology

2020

English

A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia

BMC Medical Genetics

Genetics

2018

English

Architectural Role of Mitochondrial Transcription Factor a in Maintenance of Human Mitochondrial DNA

Molecular and Cellular Biology

Cell Biology

Molecular Biology

2004

English

Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report

Experimental and Therapeutic Medicine

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Gráinne S. Gorman

Identification of a Novel Heterozygous Guanosine Monophosphate Reductase ( GMPR ) Variant in a Patient With a Late‐onset Disorder of Mitochondrial DNA Maintenance

Consensus-Based Statements for the Management of Mitochondrial Stroke-Like Episodes

Related publications

A Novel ISCA2 Variant Responsible for an Early-Onset Neurodegenerative Mitochondrial Disorder: A Case Report of Multiple Mitochondrial Dysfunctions Syndrome 4

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

A Novel Heterozygous ANO3 Mutation With Basal Ganglia Dysfunction in a Patient With Adult-Onset Isolated Segmental Dystonia

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia

Architectural Role of Mitochondrial Transcription Factor a in Maintenance of Human Mitochondrial DNA

Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report