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E Lamantea

Showing results (1-10 of 27) with videos related to

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 10, 2000
Neuronal ceroid lipofuscinosis: detection of atypical formsN Nardocci, M Morbin, M Bugiani, et al.
Neuromuscular Disorders : NMD|July 19, 2000
Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second caseG Uziel, F Carrara, T Granata, et al.
Neuropediatrics|June 21, 2002
Cerebral white matter involvement in children with mitochondrial encephalopathiesI Moroni, M Bugiani, A Bizzi, et al.
Molecular Genetics and Metabolism Reports|December 23, 2021
A novel <i>MRPS34</i> gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndromeL Lenzini, M Carecchio, E Iori, et al.
Pediatric Neurology|March 30, 2000
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiencyR Pons, P Cavadini, S Baratta, et al.
Current Molecular Medicine|October 18, 2014
Mitochondrial Diseases in ChildhoodA Ardissone, E Lamantea, F Invernizzi, et al.
Annals of Neurology|February 24, 2001
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patientsP Corona, C Antozzi, F Carrara, et al.
Human Molecular Genetics|February 22, 2001
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndromeV Petruzzella, R Vergari, I Puzziferri, et al.
Human Molecular Genetics|February 1, 1997
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndromeM Munaro, V Tiranti, D Sandonà, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 1, 1997
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six familiesG Uziel, I Moroni, E Lamantea, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 10, 2000
Neuronal ceroid lipofuscinosis: detection of atypical formsN Nardocci, M Morbin, M Bugiani, et al.
Neuromuscular Disorders : NMD|July 19, 2000
Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second caseG Uziel, F Carrara, T Granata, et al.
Neuropediatrics|June 21, 2002
Cerebral white matter involvement in children with mitochondrial encephalopathiesI Moroni, M Bugiani, A Bizzi, et al.
Molecular Genetics and Metabolism Reports|December 23, 2021
A novel <i>MRPS34</i> gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndromeL Lenzini, M Carecchio, E Iori, et al.
Pediatric Neurology|March 30, 2000
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiencyR Pons, P Cavadini, S Baratta, et al.
Current Molecular Medicine|October 18, 2014
Mitochondrial Diseases in ChildhoodA Ardissone, E Lamantea, F Invernizzi, et al.
Annals of Neurology|February 24, 2001
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patientsP Corona, C Antozzi, F Carrara, et al.
Human Molecular Genetics|February 22, 2001
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndromeV Petruzzella, R Vergari, I Puzziferri, et al.
Human Molecular Genetics|February 1, 1997
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndromeM Munaro, V Tiranti, D Sandonà, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 1, 1997
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six familiesG Uziel, I Moroni, E Lamantea, et al.
Pageof 3