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Brain : a Journal of Neurology
|
April 1, 1995
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
P Riordan-Eva, M D Sanders, G G Govan, et al.
The British Journal of Ophthalmology
|
September 1, 1992
Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy
F X Borruat, W T Green, E M Graham, et al.
Neurology
|
December 31, 1997
Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration
O Bandmann, M G Sweeney, S E Daniel, et al.
Diabetologia
|
April 1, 1994
Mitochondrial gene defects in patients with NIDDM
J C Alcolado, A Majid, M Brockington, et al.
Lancet (London, England)
|
December 5, 1992
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, R J Ross, M G Sweeney, et al.
American Journal of Human Genetics
|
May 1, 1995
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
M G Hanna, I Nelson, M G Sweeney, et al.
The British Journal of Ophthalmology
|
April 29, 2008
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
P P Rath, S Jenkins, M Michaelides, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 20, 2002
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
M-J Lee, I Nelson, H Houlden, 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 expansion
M 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 SCN4A
F Brancati, E M Valente, N P Davies, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 48) with videos related to
Sort By:
Page
of 5
Brain : a Journal of Neurology
|
April 1, 1995
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
P Riordan-Eva, M D Sanders, G G Govan, et al.
The British Journal of Ophthalmology
|
September 1, 1992
Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy
F X Borruat, W T Green, E M Graham, et al.
Neurology
|
December 31, 1997
Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration
O Bandmann, M G Sweeney, S E Daniel, et al.
Diabetologia
|
April 1, 1994
Mitochondrial gene defects in patients with NIDDM
J C Alcolado, A Majid, M Brockington, et al.
Lancet (London, England)
|
December 5, 1992
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, R J Ross, M G Sweeney, et al.
American Journal of Human Genetics
|
May 1, 1995
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
M G Hanna, I Nelson, M G Sweeney, et al.
The British Journal of Ophthalmology
|
April 29, 2008
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
P P Rath, S Jenkins, M Michaelides, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 20, 2002
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
M-J Lee, I Nelson, H Houlden, 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 expansion
M 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 SCN4A
F Brancati, E M Valente, N P Davies, et al.
Page
of 5