James V. Leonard

发表

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2009, Human mutation.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

Molecular mechanisms in mitochondrial DNA depletion syndrome.

J. Cooper, A. Schapira, P. Clayton, 1997, Human molecular genetics.

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

J. Cooper, A. Schapira, A. Bodnar, 1993, American journal of human genetics.

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

J. Cooper, A. Schapira, J. Taanman, 1999, The American journal of pathology.

Liver failure associated with mitochondrial DNA depletion.

S. Love, J. Cooper, A. Schapira, 1998, Journal of hepatology.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

F. Muntoni, B. Andresen, S. Rahman, 2003, Journal of Inherited Metabolic Disease.

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

R. Trembath, L. Wilson, M. Luttikhuis, 1994, Genomics.

Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency

T. Bottiglieri, J. Leonard, U. Wendel, 1988, Neurology.

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Yuan-Tsong Chen, J. Leonard, Y. Bao, 1996, The Journal of clinical investigation.

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

I. Nelson, J. Cooper, A. Schapira, 1999, American journal of human genetics.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1998, American journal of human genetics.

The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.

D. Turnbull, J. Leonard, A. Aynsley-Green, 1992, Clinica chimica acta; international journal of clinical chemistry.

Clinical diversity of pyruvate dehydrogenase deficiency.

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