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Defects of thiamine transport and metabolism

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.577-585

Brown, Garry

2014

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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

American journal of human genetics, 2012-10, Vol.91 (4), p.737-743

2012

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

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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

Nature genetics, 1998-12, Vol.20 (4), p.337-343

1998

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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

American journal of human genetics, 2007-01, Vol.80 (1), p.195-199

2007

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

Annals of neurology, 2005-08, Vol.58 (2), p.234-241

2005

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JIMD Reports - Case and Research Reports, 2012/4

2013, 2012

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Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

Archives of disease in childhood, 2013-12, Vol.98 (12), p.1004-1007

2013

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Pyruvate dehydrogenase E3 binding protein deficiency

Human genetics, 2002-02, Vol.110 (2), p.187-191

2002

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

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.459-467

2012

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

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2079-2084

2010

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Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form

Human molecular genetics, 1993-01, Vol.2 (1), p.23-30

1993

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Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

Human molecular genetics, 1994-06, Vol.3 (6), p.947-951

1994

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A SURF 1 gene mutation presenting as isolated leukodystrophy

Annals of neurology, 2001, Vol.49 (6), p.797-800

2001

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Transfection Screening for Primary Defects in the Pyruvate Dehydrogenase E1α Subunit Gene

Human molecular genetics, 1997-08, Vol.6 (8), p.1361-1367

1997

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Duplications of mitochondrial DNA in Kearns-Sayre syndrome

Muscle & nerve, 1995, Vol.18 (S14), p.S154-S158

1995

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

Pediatric neurology, 1994-10, Vol.11 (3), p.224-229

1994

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Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

Annals of neurology, 1994-07, Vol.36 (1), p.83-89

1994

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Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1α subunit mutations in females

Pediatric neurology, 1995-11, Vol.13 (4), p.327-332

1995

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Exercise capacity and skeletal muscle structure and function before and after balloon mitral valvuloplasty

The American journal of cardiology, 1995-10, Vol.76 (10), p.684-688

1995

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The eVALuate study: two parallel randomised trials, one comparing laparoscopic with abdominal hysterectomy, the other comparing laparoscopic with vaginal hysterectomy

BMJ, 2004-01, Vol.328 (7432), p.129-133

International edition, 2004

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A Comparison of Outcomes with Angiotensin-Converting–Enzyme Inhibitors and Diuretics for Hypertension in the Elderly

The New England journal of medicine, 2003-02, Vol.348 (7), p.583-592

2003

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Clinical Illness and Outcomes in Patients with Ebola in Sierra Leone

The New England journal of medicine, 2014-11, Vol.371 (22), p.2092-2100

2014

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Clinical outcomes after cardiac transplantation in muscular dystrophy patients

The Journal of heart and lung transplantation, 2010-04, Vol.29 (4), p.432-438

2010

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Transcriptional Pathway Signatures Predict MEK Addiction and Response to Selumetinib (AZD6244)

Cancer research (Chicago, Ill.), 2010-03, Vol.70 (6), p.2264-2273

2010

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Defects of thiamine transport and metabolism

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

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

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

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

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

JIMD Reports - Case and Research Reports, 2012/4

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

Pyruvate dehydrogenase E3 binding protein deficiency

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

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

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form

Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

A SURF 1 gene mutation presenting as isolated leukodystrophy

Transfection Screening for Primary Defects in the Pyruvate Dehydrogenase E1α Subunit Gene

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

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

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1α subunit mutations in females

Exercise capacity and skeletal muscle structure and function before and after balloon mitral valvuloplasty

The eVALuate study: two parallel randomised trials, one comparing laparoscopic with abdominal hysterectomy, the other comparing laparoscopic with vaginal hysterectomy

A Comparison of Outcomes with Angiotensin-Converting–Enzyme Inhibitors and Diuretics for Hypertension in the Elderly

Clinical Illness and Outcomes in Patients with Ebola in Sierra Leone

Clinical outcomes after cardiac transplantation in muscular dystrophy patients

Transcriptional Pathway Signatures Predict MEK Addiction and Response to Selumetinib (AZD6244)

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