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Showing results (161-170 of 184) with videos related to

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Journal of Medical Genetics|July 3, 2008
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyR Mineri, M Rimoldi, A B Burlina, et al.
Annals of Neurology|February 5, 1998
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron diseaseG P Comi, A Bordoni, S Salani, 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.
Journal of Medical Genetics|September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Uusimaa, H Jungbluth, C Fratter, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.
Acta Neuropathologica|August 1, 1996
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathyA Malandrini, P Carrera, S Palmeri, et al.
Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.
European Journal of Human Genetics : EJHG|March 27, 1999
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) geneK Verhoeven, R J Ensink, V Tiranti, et al.
European Journal of Neurology|June 26, 2001
EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two partsT Gasser, M Dichgans, J Finsterer, et al.
The Journal of Pediatrics|August 4, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathyC Bruno, D M Kirby, Y Koga, et al.
Pageof 19

Showing results (161-170 of 184) with videos related to

Sort By:
Pageof 19
Journal of Medical Genetics|July 3, 2008
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyR Mineri, M Rimoldi, A B Burlina, et al.
Annals of Neurology|February 5, 1998
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron diseaseG P Comi, A Bordoni, S Salani, 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.
Journal of Medical Genetics|September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Uusimaa, H Jungbluth, C Fratter, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.
Acta Neuropathologica|August 1, 1996
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathyA Malandrini, P Carrera, S Palmeri, et al.
Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.
European Journal of Human Genetics : EJHG|March 27, 1999
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) geneK Verhoeven, R J Ensink, V Tiranti, et al.
European Journal of Neurology|June 26, 2001
EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two partsT Gasser, M Dichgans, J Finsterer, et al.
The Journal of Pediatrics|August 4, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathyC Bruno, D M Kirby, Y Koga, et al.
Pageof 19