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M Zeviani

Showing results (141-150 of 184) with videos related to

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Journal of Inherited Metabolic Disease|January 7, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromesA Spinazzola, F Invernizzi, F Carrara, et al.
Neurology|April 23, 2003
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)A Agostino, L Valletta, P F Chinnery, et al.
American Journal of Human Genetics|April 1, 1996
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3pJ A Kaukonen, P Amati, A Suomalainen, et al.
Journal of Endocrinological Investigation|March 24, 2006
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermiaA Brusco, C Michielotto, V Gatta, et al.
Human Molecular Genetics|August 1, 1995
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) geneV Tiranti, P Chariot, F Carella, et al.
Annals of Neurology|July 1, 1989
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular geneticsA Lombes, J R Mendell, H Nakase, et al.
Neurology|January 5, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO familyL Napoli, A Bordoni, M Zeviani, et al.
Neuromuscular Disorders : NMD|May 23, 2001
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutationsC Gellera, B Castellotti, M C Riggio, et al.
Neurology|May 29, 2001
Epileptic phenotypes associated with mitochondrial disordersL Canafoglia, S Franceschetti, C Antozzi, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individualsA Rovio, V Tiranti, A L Bednarz, et al.
Pageof 19

Showing results (141-150 of 184) with videos related to

Sort By:
Pageof 19
Journal of Inherited Metabolic Disease|January 7, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromesA Spinazzola, F Invernizzi, F Carrara, et al.
Neurology|April 23, 2003
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)A Agostino, L Valletta, P F Chinnery, et al.
American Journal of Human Genetics|April 1, 1996
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3pJ A Kaukonen, P Amati, A Suomalainen, et al.
Journal of Endocrinological Investigation|March 24, 2006
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermiaA Brusco, C Michielotto, V Gatta, et al.
Human Molecular Genetics|August 1, 1995
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) geneV Tiranti, P Chariot, F Carella, et al.
Annals of Neurology|July 1, 1989
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular geneticsA Lombes, J R Mendell, H Nakase, et al.
Neurology|January 5, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO familyL Napoli, A Bordoni, M Zeviani, et al.
Neuromuscular Disorders : NMD|May 23, 2001
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutationsC Gellera, B Castellotti, M C Riggio, et al.
Neurology|May 29, 2001
Epileptic phenotypes associated with mitochondrial disordersL Canafoglia, S Franceschetti, C Antozzi, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individualsA Rovio, V Tiranti, A L Bednarz, et al.
Pageof 19