29 results on '"Zeviani, M."'
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2. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
3. CHILDREN WITH MITOCHONDRIAL DISEASE: NEW DISEASES PROVIDE NEW THERAPEUTIC POSSIBILITIES: FW 4-2
4. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
5. Reversible infantile respiratory chain deficiency is a unique genetically heterogeneous mitochondrial disease
6. Localized cerebral energy failure in mitochondrial polymerase gammaassociated encephalopathy: SC334
7. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
8. Multi-system neurological disease is common in patients with OPA1 mutations
9. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
10. EFNS guidelines on the molecular diagnosis of mitochondrial disorders
11. Sulfur toxicity in a human mitochondrial disorder: IL 4.5-3
12. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntingtonʼs disease, Parkinsonʼs disease and dystonias
13. Clinical and molecular features of mitochondrial DNA depletion syndromes
14. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk
15. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
16. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
17. ETHE1 mutations are specific to ethylmalonic encephalopathy
18. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
19. Dominance in mitochondrial disorders
20. Devicʼs neuromyelitis optica and mitochondrial DNA mutation: a case report
21. Nuclear genes in mitochondrial disorders: MT6-2
22. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome
23. GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
24. Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
25. The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy
26. EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases Second of two parts
27. EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts
28. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain
29. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
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