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Patrick F Chinnery

Showing results (411-420 of 473) with videos related to

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Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Neurology|September 12, 2014
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotypeKathryn J Peall, Manju A Kurian, Mark Wardle, et al.
Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.
Annals of the Rheumatic Diseases|September 18, 2012
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controlsGavin Hudson, Kalliope Panoutsopoulou, Ian Wilson, et al.
The Lancet. Neurology|June 17, 2019
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension studyThomas Klopstock, Fernando Tricta, Lynne Neumayr, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
Brain : a Journal of Neurology|February 1, 2013
SGCE mutations cause psychiatric disorders: clinical and genetic characterizationKathryn J Peall, Daniel J Smith, Manju A Kurian, et al.
American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 8, 2012
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's diseaseLaura L Kilarski, Justin P Pearson, Victoria Newsway, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
Pageof 48

Showing results (411-420 of 473) with videos related to

Sort By:
Pageof 48
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Neurology|September 12, 2014
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotypeKathryn J Peall, Manju A Kurian, Mark Wardle, et al.
Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.
Annals of the Rheumatic Diseases|September 18, 2012
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controlsGavin Hudson, Kalliope Panoutsopoulou, Ian Wilson, et al.
The Lancet. Neurology|June 17, 2019
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension studyThomas Klopstock, Fernando Tricta, Lynne Neumayr, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
Brain : a Journal of Neurology|February 1, 2013
SGCE mutations cause psychiatric disorders: clinical and genetic characterizationKathryn J Peall, Daniel J Smith, Manju A Kurian, et al.
American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 8, 2012
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's diseaseLaura L Kilarski, Justin P Pearson, Victoria Newsway, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
Pageof 48