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Angela Pyle

Showing results (31-40 of 119) with videos related to

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Neurology|April 3, 2015
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFBMichael J Keogh, Angela Pyle, Daniyal Daud, et al.
Annals of Neurology|September 8, 2015
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's diseaseAngela Pyle, Rebecca Brennan, Marzena Kurzawa-Akanbi, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
EMBO Reports|August 17, 2023
Feasibility and impact of haplogroup matching for mitochondrial replacement treatmentYuko Takeda, Louise Hyslop, Meenakshi Choudhary, et al.
Neurology. Genetics|September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activitiesEwen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
Archives of Neurology|July 4, 2012
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencingAngela Pyle, Helen Griffin, Patrick Yu-Wai-Man, et al.
JIMD Reports|August 31, 2016
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological FeaturesRenata Oliveira, Ewen W Sommerville, Kyle Thompson, et al.
Journal of Neurogenetics|November 5, 2013
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationAngela Pyle, Helen Griffin, Jennifer Duff, et al.
Lancet (London, England)|December 20, 2005
Mitochondrial DNA and survival after sepsis: a prospective studySimon V Baudouin, David Saunders, Watcharee Tiangyou, et al.
Pageof 12

Showing results (31-40 of 119) with videos related to

Sort By:
Pageof 12
Neurology|April 3, 2015
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFBMichael J Keogh, Angela Pyle, Daniyal Daud, et al.
Annals of Neurology|September 8, 2015
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's diseaseAngela Pyle, Rebecca Brennan, Marzena Kurzawa-Akanbi, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
EMBO Reports|August 17, 2023
Feasibility and impact of haplogroup matching for mitochondrial replacement treatmentYuko Takeda, Louise Hyslop, Meenakshi Choudhary, et al.
Neurology. Genetics|September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activitiesEwen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
Archives of Neurology|July 4, 2012
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencingAngela Pyle, Helen Griffin, Patrick Yu-Wai-Man, et al.
JIMD Reports|August 31, 2016
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological FeaturesRenata Oliveira, Ewen W Sommerville, Kyle Thompson, et al.
Journal of Neurogenetics|November 5, 2013
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationAngela Pyle, Helen Griffin, Jennifer Duff, et al.
Lancet (London, England)|December 20, 2005
Mitochondrial DNA and survival after sepsis: a prospective studySimon V Baudouin, David Saunders, Watcharee Tiangyou, et al.
Pageof 12