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F M Santorelli

Showing results (1-10 of 122) with videos related to

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Functional Neurology|August 5, 2000
Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactionsG Nappi, A Costa, C Tassorelli, et al.
Ultrastructural Pathology|April 12, 2001
Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study reportR Boldrini, R Biselli, F M Santorelli, et al.
Journal of Child Neurology|March 1, 2000
HyperCKemia as the only sign of McArdle's disease in a childC Bruno, E Bertini, F M Santorelli, et al.
Current Molecular Medicine|October 18, 2014
Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old DiseaseA Simonati, F Pezzini, F Moro, et al.
Neurology|July 1, 1997
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationF M Santorelli, K Tanji, S Shanske, et al.
American Heart Journal|January 3, 2001
The emerging concept of mitochondrial cardiomyopathiesF M Santorelli, A Tessa, G D'amati, et al.
FEBS Letters|December 20, 2000
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coliR Carrozzo, J Murray, F M Santorelli, et al.
Pediatric Neurology|September 1, 1996
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected deathF M Santorelli, J S Schlessel, A E Slonim, et al.
Human Mutation|June 22, 2000
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis childrenA Tessa, A Simonati, A Tavoni, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
Pageof 13

Showing results (1-10 of 122) with videos related to

Sort By:
Pageof 13
Functional Neurology|August 5, 2000
Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactionsG Nappi, A Costa, C Tassorelli, et al.
Ultrastructural Pathology|April 12, 2001
Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study reportR Boldrini, R Biselli, F M Santorelli, et al.
Journal of Child Neurology|March 1, 2000
HyperCKemia as the only sign of McArdle's disease in a childC Bruno, E Bertini, F M Santorelli, et al.
Current Molecular Medicine|October 18, 2014
Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old DiseaseA Simonati, F Pezzini, F Moro, et al.
Neurology|July 1, 1997
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationF M Santorelli, K Tanji, S Shanske, et al.
American Heart Journal|January 3, 2001
The emerging concept of mitochondrial cardiomyopathiesF M Santorelli, A Tessa, G D'amati, et al.
FEBS Letters|December 20, 2000
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coliR Carrozzo, J Murray, F M Santorelli, et al.
Pediatric Neurology|September 1, 1996
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected deathF M Santorelli, J S Schlessel, A E Slonim, et al.
Human Mutation|June 22, 2000
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis childrenA Tessa, A Simonati, A Tavoni, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
Pageof 13