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Emma L Blakely

Showing results (11-20 of 95) with videos related to

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BMJ Neurology Open|December 15, 2022
Changing faces of mitochondrial disease: autosomal recessive <i>POLG</i> disease mimicking myasthenia gravis and progressive supranuclear palsyMenatalla Elwan, Andrew M Schaefer, Kate Craig, et al.
BMC Research Notes|October 21, 2011
Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0Mazin A Zamzami, Gareth R Price, Robert W Taylor, et al.
Neuromuscular Disorders : NMD|December 3, 2014
A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial diseaseDiana Lehmann, Kathrin Schubert, Pushpa R Joshi, et al.
Archives of Neurology|September 15, 2010
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutationsCarla Giordano, Floriana Pichiorri, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|June 17, 2004
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cellsMartina T McDonnell, Andrew M Schaefer, Emma L Blakely, et al.
Human Mutation|September 2, 2011
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutationsJohn W Yarham, Mazhor Al-Dosary, Emma L Blakely, et al.
Mitochondrion|December 14, 2011
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunitsKate Craig, Matthew J Young, Emma L Blakely, et al.
Progress in Retinal and Eye Research|April 5, 2026
Ophthalmic manifestations of mitochondrial disordersMegan F Baxter, Grace A Borchert, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutationEmma L Blakely, Rajith de Silva, Andrew King, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 31, 2007
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRIPetr Vondracek, Marketa Hermanova, Kristina Vodickova, et al.
Pageof 10

Showing results (11-20 of 95) with videos related to

Sort By:
Pageof 10
BMJ Neurology Open|December 15, 2022
Changing faces of mitochondrial disease: autosomal recessive <i>POLG</i> disease mimicking myasthenia gravis and progressive supranuclear palsyMenatalla Elwan, Andrew M Schaefer, Kate Craig, et al.
BMC Research Notes|October 21, 2011
Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0Mazin A Zamzami, Gareth R Price, Robert W Taylor, et al.
Neuromuscular Disorders : NMD|December 3, 2014
A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial diseaseDiana Lehmann, Kathrin Schubert, Pushpa R Joshi, et al.
Archives of Neurology|September 15, 2010
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutationsCarla Giordano, Floriana Pichiorri, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|June 17, 2004
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cellsMartina T McDonnell, Andrew M Schaefer, Emma L Blakely, et al.
Human Mutation|September 2, 2011
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutationsJohn W Yarham, Mazhor Al-Dosary, Emma L Blakely, et al.
Mitochondrion|December 14, 2011
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunitsKate Craig, Matthew J Young, Emma L Blakely, et al.
Progress in Retinal and Eye Research|April 5, 2026
Ophthalmic manifestations of mitochondrial disordersMegan F Baxter, Grace A Borchert, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutationEmma L Blakely, Rajith de Silva, Andrew King, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 31, 2007
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRIPetr Vondracek, Marketa Hermanova, Kristina Vodickova, et al.
Pageof 10