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Journal of Child Neurology
|
March 12, 1999
Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction
M Castro-Gago, A Alonso, E Pintos-Martínez, et al.
Muscle & Nerve
|
July 9, 1999
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency
M A Martín, J C Rubio, F De Bustos, et al.
Journal of Inherited Metabolic Disease
|
December 22, 1999
Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation
M A Martín, Y Campos, M T García-Silva, et al.
Human Mutation
|
June 22, 2000
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency
M A Martín, J C Rubio, P del Hoyo, et al.
Neurology
|
February 5, 1999
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers
J Arenas, Y Campos, B Bornstein, et al.
Neuromuscular Disorders : NMD
|
October 4, 2005
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE
A Blazquez, M A Martín, M C Lara, et al.
Human Genetics
|
July 1, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Human Genetics
|
July 2, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Revista De Neurologia
|
June 17, 2003
[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy]
M Castro-Gago, A Alonso, E Pintos-Martínez, et al.
Neurology
|
October 27, 2004
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE
M A Martín, A Blázquez, R Martí, et al.
Page
of 13
Search research articles
Search
Showing results (81-90 of 121) with videos related to
Sort By:
Page
of 13
Journal of Child Neurology
|
March 12, 1999
Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction
M Castro-Gago, A Alonso, E Pintos-Martínez, et al.
Muscle & Nerve
|
July 9, 1999
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency
M A Martín, J C Rubio, F De Bustos, et al.
Journal of Inherited Metabolic Disease
|
December 22, 1999
Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation
M A Martín, Y Campos, M T García-Silva, et al.
Human Mutation
|
June 22, 2000
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency
M A Martín, J C Rubio, P del Hoyo, et al.
Neurology
|
February 5, 1999
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers
J Arenas, Y Campos, B Bornstein, et al.
Neuromuscular Disorders : NMD
|
October 4, 2005
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE
A Blazquez, M A Martín, M C Lara, et al.
Human Genetics
|
July 1, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Human Genetics
|
July 2, 2005
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
A Drousiotou, T Georgiou, A Drousiotou, et al.
Revista De Neurologia
|
June 17, 2003
[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy]
M Castro-Gago, A Alonso, E Pintos-Martínez, et al.
Neurology
|
October 27, 2004
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE
M A Martín, A Blázquez, R Martí, et al.
Page
of 13