Ruth M. Brown

发表

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

E. Shoubridge, M. Chevrette, J. Yao, 1998, Nature Genetics.

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

R. Capaldi, M. Marusich, Garry K. Brown, 2002, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

W. Dobyns, J. Rankin, Garry K. Brown, 2010, American journal of medical genetics. Part A.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency

Garry K. Brown, Ruth M. Brown, E. Serdaroğlu, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

P. Matthews, S. Old, H. Dahl, 1994, Annals of neurology.

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

J. Tolmie, C. Ridout, Garry K. Brown, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

I. Parees, F. Gago, H. Houlden, 2019, Human Genetics.

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

J. Walter, C. Ridout, Garry K. Brown, 2008, Human Genetics.

Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity

G. Brown, Garry K. Brown, Ruth M. Brown, 1998 .

Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondria.

R. Capaldi, Garry K. Brown, Ruth M. Brown, 2002, Mitochondrion.

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

D. Saunders, S. Rahman, E. Glamuzina, 2012, Journal of Inherited Metabolic Disease.

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

J. Leonard, N. Thomas, Garry K. Brown, 2004, Human Genetics.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Malene B. Rasmussen, T. Shaikh, C. Dieckmann, 2014, Brain : a journal of neurology.

Observations on the Menkes' and brindled mouse phenotypes in cell hybrids

D. Danks, J. Camakaris, Ruth M. Brown, 1984, Somatic cell and molecular genetics.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

Molecular cloning and tissue‐specific expression of mouse kidney 6‐phosphofructo‐2‐kinase/fructose‐2,6‐bisphosphatase

G. Brown, I. Craig, Garry K. Brown, 1996, FEBS letters.

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

E. Shoubridge, H. Antonicka, G. Brown, 2012, American journal of human genetics.

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

E. Shoubridge, H. Antonicka, Kevin C. H. Ha, 2013, Human mutation.

Mutations in the X‐linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

S. Seneca, L. de Meirleir, E. Naito, 2000, Human mutation.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Robert W. Taylor, J. Casey, A. Vanderver, 2016, Journal of Medical Genetics.

A SURF1 gene mutation presenting as isolated leukodystrophy

W. K. Chong, Callum Wilson, Garry K. Brown, 2001, Annals of neurology.

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

P. Clayton, M. King, Garry K. Brown, 2005, Annals of neurology.

Pyruvate dehydrogenase E3 binding protein deficiency

Garry K. Brown, Ruth M. Brown, R. Head, 2002, Human Genetics.

The SFT-1 and OXA-1 respiratory chain complex assembly factors influence lifespan by distinct mechanisms in C. elegans

A. Woollard, C. Delaney, P. Appleford, 2013, Longevity & healthspan.

Pyruvate dehydrogenase deficiency.

G. Brown, Garry K. Brown, Ruth M. Brown, 1994, Journal of medical genetics.

Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells

R. Cotton, R. Cotton, R. James, 1985, Somatic cell and molecular genetics.

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.

G. Brown, H. Dahl, Garry K. Brown, 1989, Genomics.

Phenotypic continuum of NFU1 ‐related disorders

J. Ganesh, H. Galehdari, S. Efthymiou, 2022, Annals of clinical and translational neurology.

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

G. Brown, L. de Meirleir, D. Kerr, 1992 .

Clinical diversity of pyruvate dehydrogenase deficiency.

D. Gadian, D. Gadian, A. Connelly, 1994, Pediatric neurology.

Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA

P. Matthews, G. Brown, K. Morten, 1995, Human Genetics.

Comparison oftherelative levels ofthe3243 (A-+G)mtDNA mutation inheteroplasmic adult andfetal tissues

Garry K. Brown, Ruth M. Brown, D. Hilton‐Jones, 1994 .

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

P. Matthews, D. Arnold, G. Brown, 1994, Pediatric neurology.