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Showing results (31-40 of 76) with videos related to

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Human Genetics|May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiencyCharlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
Journal of Medical Genetics|September 14, 2012
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyCharlotte L Alston, James E Davison, Francesca Meloni, et al.
Brain : a Journal of Neurology|December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Frontiers in Genetics|August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics|April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
The Journal of Pediatrics|December 11, 2013
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureAbdulrahman Al-Hussaini, Eissa Faqeih, Ayman W El-Hattab, et al.
Journal of Neuropathology and Experimental Neurology|June 18, 2015
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 MutationsNichola Z Lax, Charlotte L Alston, Katherine Schon, et al.
Pageof 8

Showing results (31-40 of 76) with videos related to

Sort By:
Pageof 8
Human Genetics|May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiencyCharlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
Journal of Medical Genetics|September 14, 2012
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyCharlotte L Alston, James E Davison, Francesca Meloni, et al.
Brain : a Journal of Neurology|December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Frontiers in Genetics|August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics|April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
The Journal of Pediatrics|December 11, 2013
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureAbdulrahman Al-Hussaini, Eissa Faqeih, Ayman W El-Hattab, et al.
Journal of Neuropathology and Experimental Neurology|June 18, 2015
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 MutationsNichola Z Lax, Charlotte L Alston, Katherine Schon, et al.
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