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E Lamantea

Showing results (11-20 of 27) with videos related to

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Neuromuscular Disorders : NMD|April 30, 1999
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonusV Tiranti, F Carrara, P Confalonieri, et al.
Electrophoresis|September 23, 2000
Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresisN S Henderson, L G Nijtmans, J G Lindsay, et al.
Human Molecular Genetics|November 1, 1995
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformantsV Tiranti, M Munaro, D Sandonà, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 15, 1992
Molecular characterization of inherited carnitine palmitoyltransferase II deficiencyF Taroni, E Verderio, S Fiorucci, et al.
Human Molecular Genetics|January 1, 1995
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsE Verderio, P Cavadini, L Montermini, et al.
Human Molecular Genetics|November 7, 2000
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndromeV Tiranti, P Corona, M Greco, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh diseaseM Di Rocco, U Caruso, I Moroni, et al.
Annals of Neurology|January 10, 2002
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentationsP Corona, E Lamantea, M Greco, et al.
Neurology|May 19, 2006
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathyM Bugiani, S Al Shahwan, E Lamantea, et al.
Balkan Journal of Medical Genetics : BJMG|October 17, 2022
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center StudyM Rogac, D Neubauer, L Leonardis, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|April 30, 1999
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonusV Tiranti, F Carrara, P Confalonieri, et al.
Electrophoresis|September 23, 2000
Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresisN S Henderson, L G Nijtmans, J G Lindsay, et al.
Human Molecular Genetics|November 1, 1995
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformantsV Tiranti, M Munaro, D Sandonà, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 15, 1992
Molecular characterization of inherited carnitine palmitoyltransferase II deficiencyF Taroni, E Verderio, S Fiorucci, et al.
Human Molecular Genetics|January 1, 1995
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsE Verderio, P Cavadini, L Montermini, et al.
Human Molecular Genetics|November 7, 2000
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndromeV Tiranti, P Corona, M Greco, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh diseaseM Di Rocco, U Caruso, I Moroni, et al.
Annals of Neurology|January 10, 2002
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentationsP Corona, E Lamantea, M Greco, et al.
Neurology|May 19, 2006
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathyM Bugiani, S Al Shahwan, E Lamantea, et al.
Balkan Journal of Medical Genetics : BJMG|October 17, 2022
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center StudyM Rogac, D Neubauer, L Leonardis, et al.
Pageof 3