Matthews PM - Search Results

1

Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.

Fujii T, Van Coster RN, Old SE, Medori R, Winter S, Gubits RM, Matthews PM, Brown RM, Brown GK, Dahl HH, et al. Fujii T, et al. Among authors: matthews pm. Ann Neurol. 1994 Jul;36(1):83-9. doi: 10.1002/ana.410360116. Ann Neurol. 1994. PMID: 8024267

2

Isolated capillary proliferation in Leigh's syndrome.

Matthews PM, Nagy Z, Brown GK, Land J, Squier MV. Matthews PM, et al. Clin Neuropathol. 1994 May-Jun;13(3):139-41. Clin Neuropathol. 1994. PMID: 7522140

3

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

Matthews PM, Benjamin D, Van Bakel I, Squier MV, Nicholson LV, Sewry C, Barnes PR, Hopkin J, Brown R, Hilton-Jones D, et al. Matthews PM, et al. Neuromuscul Disord. 1995 May;5(3):209-20. doi: 10.1016/0960-8966(94)00057-g. Neuromuscul Disord. 1995. PMID: 7633186

4

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

Matthews PM, Brown RM, Morten K, Marchington D, Poulton J, Brown G. Matthews PM, et al. Hum Genet. 1995 Sep;96(3):261-8. doi: 10.1007/BF00210404. Hum Genet. 1995. PMID: 7649539

5

Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.

Matthews PM, Brown RM, Otero L, Marchington D, Leonard JV, Brown GK. Matthews PM, et al. Neurology. 1993 Oct;43(10):2025-30. doi: 10.1212/wnl.43.10.2025. Neurology. 1993. PMID: 7692352

6

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

Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL. Shevell MI, et al. Among authors: matthews pm. Pediatr Neurol. 1994 Oct;11(3):224-9. doi: 10.1016/0887-8994(94)90107-4. Pediatr Neurol. 1994. PMID: 7880337

7

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK. Matthews PM, et al. Brain. 1994 Jun;117 ( Pt 3):435-43. doi: 10.1093/brain/117.3.435. Brain. 1994. PMID: 8032855

8

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

Matthews PM, Hopkin J, Brown RM, Stephenson JB, Hilton-Jones D, Brown GK. Matthews PM, et al. J Med Genet. 1994 Jan;31(1):41-4. doi: 10.1136/jmg.31.1.41. J Med Genet. 1994. PMID: 8151636 Free PMC article.

9

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK. Matthews PM, et al. Ann Neurol. 1993 Jun;33(6):652-5. doi: 10.1002/ana.410330616. Ann Neurol. 1993. PMID: 8498846

10

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.

Otero LJ, Brown GK, Silver K, Arnold DL, Matthews PM. Otero LJ, et al. Among authors: matthews pm. Pediatr Neurol. 1995 Nov;13(4):327-32. doi: 10.1016/0887-8994(95)00222-7. Pediatr Neurol. 1995. PMID: 8771169

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