716 results on '"Turnbull, D M"'
Search Results
102. Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons
103. POG06 Development and validation of a quality of life scale for mitochondrial disease (Mito-QoL)
104. PORT03 MRC mitochondrial cohort study: development of a UK database
105. POG05 Habitual physical activity in mitochondrial disease--do we need to intervene?
106. ChemInform Abstract: Intensities of CH- and CD-Stretching Overtones in 1,3-Butadiene and 1, 3-Butadiene-d6
107. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
108. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations
109. Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?
110. Clinical Reasoning: Blurred vision and dancing feet
111. Mitochondrial changes within axons in multiple sclerosis
112. URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION
113. OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS
114. Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy
115. Resistance training in patients with single, large-scale deletions of mitochondrial DNA
116. GASTROINTESTINAL TRACT INVOLVEMENT ASSOCIATED WITH THE 3243A>G MITOCHONDRIAL DNA MUTATION
117. MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE
118. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
119. Hyperemesis gravidarumand first trimester sagittal sinus thrombosis
120. Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation
121. Homoplasmy, heteroplasmy, and mitochondrial dystonia
122. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
123. Relative Rates of Evolution in the Coding and Control Regions of African mtDNAs
124. Diabetes and Deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
125. MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE
126. Mitochondrial DNA Mutations and Aging
127. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
128. Progressive depletion of mtDNA in mitochondrial myopathy
129. Mitochondrial disease in adults: A scale to monitor progression and treatment
130. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
131. POLG1 , C10ORF2 , and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
132. Pure myopathy associated with a novel mitochondrial tRNA gene mutation
133. Role of Mitochondrial DNA Mutations in Disease and Aging
134. Assessment of visual function in chronic progressive external ophthalmoplegia
135. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase mutations
136. The use of PNAs and their derivatives in mitochondrial gene therapy
137. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene
138. Mitochondrial DNA mutations in the haematopoietic system
139. The use of PNAs and their derivatives in mitochondrial gene therapy
140. Investigation of mitochondrial function in hereditary spastic paraparesis
141. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells
142. Mitochondrial myopathy with skeletal muscle cytochrome oxidase deficiency
143. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy
144. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect
145. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
146. The epidemiology of pathogenic mitochondrial DNA mutations
147. Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families.
148. In-vitro genetic modification of mitochondrial function
149. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
150. Mitochondrial DNA disease masquerading as age-related macular degeneration
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