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R Carrozzo

Showing results (11-20 of 76) with videos related to

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Genomics|January 8, 1999
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chainV Petruzzella, V Tiranti, P Fernandez, et al.
American Journal of Medical Genetics|April 10, 1995
De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterizationE A Lindsay, L G Shaffer, R Carrozzo, et al.
Human Genetics|August 1, 1995
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patientS Regis, R Carrozzo, M Filocamo, et al.
Journal of the Neurological Sciences|December 14, 1999
Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletionsR Carrozzo, M M Davidson, W F Walker, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 5, 2004
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliR Carrozzo, T Rizza, S Lucioli, et al.
Neurology|June 17, 1999
Bilateral perisylvian polymicrogyria in three generationsR Borgatti, F Triulzi, C Zucca, et al.
Neurology|March 27, 2002
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 geneF Moro, R Carrozzo, P Veggiotti, et al.
Human Genetics|December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndromeA Ballabio, G Sebastio, R Carrozzo, et al.
Acta Neurologica Scandinavica|April 19, 2000
OXPHOS and mtDNA alterations in a family with spastic paraparesisF M Santorelli, F Piemonte, R Carrozzo, et al.
Annals of Neurology|January 13, 2000
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsyR Guerrini, J L Shanahan, R Carrozzo, et al.
Pageof 8

Showing results (11-20 of 76) with videos related to

Sort By:
Pageof 8
Genomics|January 8, 1999
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chainV Petruzzella, V Tiranti, P Fernandez, et al.
American Journal of Medical Genetics|April 10, 1995
De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterizationE A Lindsay, L G Shaffer, R Carrozzo, et al.
Human Genetics|August 1, 1995
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patientS Regis, R Carrozzo, M Filocamo, et al.
Journal of the Neurological Sciences|December 14, 1999
Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletionsR Carrozzo, M M Davidson, W F Walker, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 5, 2004
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliR Carrozzo, T Rizza, S Lucioli, et al.
Neurology|June 17, 1999
Bilateral perisylvian polymicrogyria in three generationsR Borgatti, F Triulzi, C Zucca, et al.
Neurology|March 27, 2002
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 geneF Moro, R Carrozzo, P Veggiotti, et al.
Human Genetics|December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndromeA Ballabio, G Sebastio, R Carrozzo, et al.
Acta Neurologica Scandinavica|April 19, 2000
OXPHOS and mtDNA alterations in a family with spastic paraparesisF M Santorelli, F Piemonte, R Carrozzo, et al.
Annals of Neurology|January 13, 2000
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsyR Guerrini, J L Shanahan, R Carrozzo, et al.
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