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M Jenkinson

Showing results (201-210 of 216) with videos related to

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Journal of Neurology|December 25, 2012
Recommendations to improve imaging and analysis of brain lesion load and atrophy in longitudinal studies of multiple sclerosisH Vrenken, M Jenkinson, M A Horsfield, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 20, 2016
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndromeDavide Tonduti, Simona Orcesi, Emma M Jenkinson, et al.
Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.
Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 22

Showing results (201-210 of 216) with videos related to

Sort By:
Pageof 22
Journal of Neurology|December 25, 2012
Recommendations to improve imaging and analysis of brain lesion load and atrophy in longitudinal studies of multiple sclerosisH Vrenken, M Jenkinson, M A Horsfield, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 20, 2016
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndromeDavide Tonduti, Simona Orcesi, Emma M Jenkinson, et al.
Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.
Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 22