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E Bertini

Showing results (151-160 of 205) with videos related to

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American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, 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.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Nature Genetics|December 1, 1996
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13T D Taylor, M Litt, P Kramer, et al.
Neurology|August 27, 2003
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cystsC Patrono, G Di Giacinto, E Eymard-Pierre, et al.
Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.
Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.
Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Neurology|January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay typeG S Grieco, A Malandrini, G Comanducci, et al.
Pageof 21

Showing results (151-160 of 205) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, 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.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Nature Genetics|December 1, 1996
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13T D Taylor, M Litt, P Kramer, et al.
Neurology|August 27, 2003
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cystsC Patrono, G Di Giacinto, E Eymard-Pierre, et al.
Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.
Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.
Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Neurology|January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay typeG S Grieco, A Malandrini, G Comanducci, et al.
Pageof 21