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R Carrozzo

Showing results (61-70 of 76) with videos related to

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Annals of Neurology|February 16, 1999
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephalyA Fogli, R Guerrini, F Moro, et al.
Epilepsia|September 17, 1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical patternM P Canevini, V Sgro, O Zuffardi, et al.
The EMBO Journal|May 15, 1997
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressorG Meroni, A Reymond, M Alcalay, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.
Journal of Medical Genetics|January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, et al.
Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.
Neurology|March 29, 2001
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish familyC Casali, V Bonifati, F M Santorelli, et al.
Nature|October 10, 1991
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding moleculesB Franco, S Guioli, A Pragliola, et al.
Clinical Genetics|July 28, 2016
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7M Di Nottia, M Masciullo, D Verrigni, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Annals of Neurology|February 16, 1999
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephalyA Fogli, R Guerrini, F Moro, et al.
Epilepsia|September 17, 1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical patternM P Canevini, V Sgro, O Zuffardi, et al.
The EMBO Journal|May 15, 1997
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressorG Meroni, A Reymond, M Alcalay, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.
Journal of Medical Genetics|January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, et al.
Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.
Neurology|March 29, 2001
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish familyC Casali, V Bonifati, F M Santorelli, et al.
Nature|October 10, 1991
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding moleculesB Franco, S Guioli, A Pragliola, et al.
Clinical Genetics|July 28, 2016
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7M Di Nottia, M Masciullo, D Verrigni, et al.
Pageof 8