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G Sweeney

Showing results (141-150 of 220) with videos related to

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Annals of the New York Academy of Sciences|December 10, 1999
A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsyA A Barreira, W Marques Júnior, M G Sweeney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 20, 2002
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth diseaseM-J Lee, I Nelson, H Houlden, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 1998
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansionM G Hanna, M B Davis, M G Sweeney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 23, 2003
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4AF Brancati, E M Valente, N P Davies, et al.
Heart (British Cardiac Society)|June 17, 2003
Cardiac abnormalities in patients with Leber's hereditary optic neuropathyP Sorajja, M G Sweeney, R Chalmers, 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.
Brain : a Journal of Neurology|August 1, 1992
Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutationA E Harding, M G Sweeney, D H Miller, et al.
Brain : a Journal of Neurology|April 29, 1998
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlatesP Giunti, G Sabbadini, M G Sweeney, et al.
Pageof 22

Showing results (141-150 of 220) with videos related to

Sort By:
Pageof 22
Annals of the New York Academy of Sciences|December 10, 1999
A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsyA A Barreira, W Marques Júnior, M G Sweeney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 20, 2002
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth diseaseM-J Lee, I Nelson, H Houlden, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 1998
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansionM G Hanna, M B Davis, M G Sweeney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 23, 2003
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4AF Brancati, E M Valente, N P Davies, et al.
Heart (British Cardiac Society)|June 17, 2003
Cardiac abnormalities in patients with Leber's hereditary optic neuropathyP Sorajja, M G Sweeney, R Chalmers, 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.
Brain : a Journal of Neurology|August 1, 1992
Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutationA E Harding, M G Sweeney, D H Miller, et al.
Brain : a Journal of Neurology|April 29, 1998
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlatesP Giunti, G Sabbadini, M G Sweeney, et al.
Pageof 22