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Human Genetics
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July 2, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Muscle & Nerve
|
August 3, 2000
Molecular analysis of Spanish patients with AMP deaminase deficiency
J C Rubio, M A Martín, P Del Hoyo, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2002
Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation
Y Campos, A García, J Eiris, et al.
Acta Neuropathologica
|
March 10, 2006
NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study
A Rojo, Y Campos, J M Sánchez, et al.
The Journal of Rheumatology
|
October 21, 1999
Muscle dysfunction in elderly individuals with hip fracture
M R Gonzalez-Crespo, J Arenas, J J Gomez-Reino, et al.
Revista De Neurologia
|
October 19, 2004
[Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association]
O Blanco-Barca, E Pintos-Martínez, A Alonso-Martín, et al.
Journal of the Neurological Sciences
|
February 12, 1997
Cerebrospinal fluid carnitine levels in patients with Parkinson's disease
F J Jiménez-Jiménez, J C Rubio, J A Molina, et al.
Revista De Neurologia
|
January 19, 2000
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]
M Castro-Gago, V González-Conde, M J Fernández-Seara, et al.
Neuromuscular Disorders : NMD
|
June 19, 2001
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
Y Campos, J Gámez, A García, et al.
Muscle & Nerve
|
March 1, 2002
Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy
Y Campos, A García, A López, et al.
Page
of 13
Search research articles
Search
Showing results (91-100 of 121) with videos related to
Sort By:
Page
of 13
Human Genetics
|
July 2, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Muscle & Nerve
|
August 3, 2000
Molecular analysis of Spanish patients with AMP deaminase deficiency
J C Rubio, M A Martín, P Del Hoyo, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2002
Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation
Y Campos, A García, J Eiris, et al.
Acta Neuropathologica
|
March 10, 2006
NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study
A Rojo, Y Campos, J M Sánchez, et al.
The Journal of Rheumatology
|
October 21, 1999
Muscle dysfunction in elderly individuals with hip fracture
M R Gonzalez-Crespo, J Arenas, J J Gomez-Reino, et al.
Revista De Neurologia
|
October 19, 2004
[Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association]
O Blanco-Barca, E Pintos-Martínez, A Alonso-Martín, et al.
Journal of the Neurological Sciences
|
February 12, 1997
Cerebrospinal fluid carnitine levels in patients with Parkinson's disease
F J Jiménez-Jiménez, J C Rubio, J A Molina, et al.
Revista De Neurologia
|
January 19, 2000
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]
M Castro-Gago, V González-Conde, M J Fernández-Seara, et al.
Neuromuscular Disorders : NMD
|
June 19, 2001
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
Y Campos, J Gámez, A García, et al.
Muscle & Nerve
|
March 1, 2002
Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy
Y Campos, A García, A López, et al.
Page
of 13