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V Leuzzi

Showing results (41-50 of 64) with videos related to

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Molecular Genetics and Metabolism|December 15, 2010
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 geneR Battini, A M Chilosi, M Casarano, et al.
Neuropediatrics|December 7, 2007
Tyrosine hydroxylase deficiency presenting with a biphasic clinical courseT Giovanniello, V Leuzzi, C Carducci, et al.
Neurology|April 18, 2007
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiencyV Leuzzi, M L Di Sabato, F Deodato, et al.
Annals of Neurology|March 11, 1999
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathyV Carelli, A Ghelli, L Bucchi, et al.
Neurology|June 1, 1997
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotypeV Carelli, A Ghelli, M Ratta, et al.
Parkinsonism & Related Disorders|January 30, 2021
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodesS Galosi, S Martinelli, L Pannone, et al.
The Journal of Pediatrics|February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapyC Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
La Radiologia Medica|March 12, 2009
Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusionT Scarabino, T Popolizio, M Tosetti, et al.
American Journal of Human Genetics|May 1, 1997
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484A Torroni, M Petrozzi, L D'Urbano, et al.
European Journal of Neurology|March 18, 2011
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-SaguenayE M Vingolo, R Di Fabio, S Salvatore, et al.
Pageof 7

Showing results (41-50 of 64) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|December 15, 2010
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 geneR Battini, A M Chilosi, M Casarano, et al.
Neuropediatrics|December 7, 2007
Tyrosine hydroxylase deficiency presenting with a biphasic clinical courseT Giovanniello, V Leuzzi, C Carducci, et al.
Neurology|April 18, 2007
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiencyV Leuzzi, M L Di Sabato, F Deodato, et al.
Annals of Neurology|March 11, 1999
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathyV Carelli, A Ghelli, L Bucchi, et al.
Neurology|June 1, 1997
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotypeV Carelli, A Ghelli, M Ratta, et al.
Parkinsonism & Related Disorders|January 30, 2021
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodesS Galosi, S Martinelli, L Pannone, et al.
The Journal of Pediatrics|February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapyC Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
La Radiologia Medica|March 12, 2009
Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusionT Scarabino, T Popolizio, M Tosetti, et al.
American Journal of Human Genetics|May 1, 1997
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484A Torroni, M Petrozzi, L D'Urbano, et al.
European Journal of Neurology|March 18, 2011
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-SaguenayE M Vingolo, R Di Fabio, S Salvatore, et al.
Pageof 7