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Mary G Sweeney

Showing results (1-10 of 50) with videos related to

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Journal of Neurology|September 21, 2002
Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosisMing-Jen Lee, Yuan-Chung Huang, Mary G Sweeney, et al.
Journal of the Neurological Sciences|April 24, 2012
Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxiaGeorgios Koutsis, Sally Pemble, Mary G Sweeney, et al.
Neuromuscular Disorders : NMD|August 28, 2012
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenitaSimona Portaro, Olimpia Musumeci, Vincenzo Rizzo, et al.
Brain : a Journal of Neurology|September 24, 2002
Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical studyNaheed L Khan, David J Brooks, Nicola Pavese, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 15, 2005
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)Naheed L Khan, Paola Giunti, Mary G Sweeney, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 23, 2005
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imagingClement T Loy, Mary G Sweeney, Mary B Davis, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|March 12, 2008
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family membersMichel Michaelides, Sharon A Jenkins, Doris-Eva Bamiou, et al.
Neurobiology of Aging|September 18, 2013
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptionsPietro Fratta, Toby Collins, Sally Pemble, et al.
BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.
Frontiers in Cellular Neuroscience|August 16, 2018
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat InterruptionSuran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
Journal of Neurology|September 21, 2002
Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosisMing-Jen Lee, Yuan-Chung Huang, Mary G Sweeney, et al.
Journal of the Neurological Sciences|April 24, 2012
Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxiaGeorgios Koutsis, Sally Pemble, Mary G Sweeney, et al.
Neuromuscular Disorders : NMD|August 28, 2012
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenitaSimona Portaro, Olimpia Musumeci, Vincenzo Rizzo, et al.
Brain : a Journal of Neurology|September 24, 2002
Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical studyNaheed L Khan, David J Brooks, Nicola Pavese, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 15, 2005
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)Naheed L Khan, Paola Giunti, Mary G Sweeney, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 23, 2005
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imagingClement T Loy, Mary G Sweeney, Mary B Davis, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|March 12, 2008
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family membersMichel Michaelides, Sharon A Jenkins, Doris-Eva Bamiou, et al.
Neurobiology of Aging|September 18, 2013
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptionsPietro Fratta, Toby Collins, Sally Pemble, et al.
BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.
Frontiers in Cellular Neuroscience|August 16, 2018
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat InterruptionSuran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, et al.
Pageof 5