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Neurology
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July 1, 1983
Lysosomal glycogen storage disease without acid maltase deficiency
J E Riggs, S S Schochet, L Gutmann, et al.
Annals of Neurology
|
June 1, 1991
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
M L Zupanc, C T Moraes, S Shanske, et al.
Journal of Lipid Research
|
September 14, 1999
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
M Schlame, S Shanske, S Doty, et al.
Biochemical and Biophysical Research Communications
|
September 23, 1997
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
F M Santorelli, K Tanji, R Kulikova, et al.
American Journal of Human Genetics
|
January 1, 1994
Three new mutations in patients with myophosphorylase deficiency (McArdle disease)
S Tsujino, S Shanske, I Nonaka, et al.
Archives of Neurology
|
January 1, 1994
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction
Z Rifai, M Klitzke, R Tawil, et al.
Biochemical and Biophysical Research Communications
|
September 10, 1998
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy
C Bruno, G Manfredi, A L Andreu, et al.
Nature Genetics
|
August 1, 1992
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions
C T Moraes, E Ricci, V Petruzzella, et al.
Annals of Neurology
|
November 18, 2000
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
D Thyagarajan, S Bressman, C Bruno, et al.
Annals of Neurology
|
August 1, 1996
Mitochondrial DNA and RNA processing in MELAS
P Kaufmann, Y Koga, S Shanske, et al.
Page
of 15
Search research articles
Search
Showing results (51-60 of 141) with videos related to
Sort By:
Page
of 15
Neurology
|
July 1, 1983
Lysosomal glycogen storage disease without acid maltase deficiency
J E Riggs, S S Schochet, L Gutmann, et al.
Annals of Neurology
|
June 1, 1991
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
M L Zupanc, C T Moraes, S Shanske, et al.
Journal of Lipid Research
|
September 14, 1999
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
M Schlame, S Shanske, S Doty, et al.
Biochemical and Biophysical Research Communications
|
September 23, 1997
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
F M Santorelli, K Tanji, R Kulikova, et al.
American Journal of Human Genetics
|
January 1, 1994
Three new mutations in patients with myophosphorylase deficiency (McArdle disease)
S Tsujino, S Shanske, I Nonaka, et al.
Archives of Neurology
|
January 1, 1994
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction
Z Rifai, M Klitzke, R Tawil, et al.
Biochemical and Biophysical Research Communications
|
September 10, 1998
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy
C Bruno, G Manfredi, A L Andreu, et al.
Nature Genetics
|
August 1, 1992
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions
C T Moraes, E Ricci, V Petruzzella, et al.
Annals of Neurology
|
November 18, 2000
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
D Thyagarajan, S Bressman, C Bruno, et al.
Annals of Neurology
|
August 1, 1996
Mitochondrial DNA and RNA processing in MELAS
P Kaufmann, Y Koga, S Shanske, et al.
Page
of 15