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Brain : a Journal of Neurology
|
June 1, 1996
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
P H van Domburg, A A Gabreëls-Festen, F J Gabreëls, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
O Grafakou, F A Hol, K Otfried Schwab, et al.
Neuromuscular Disorders : NMD
|
July 19, 2000
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients
A Verrips, B G van Engelen, H ter Laak, et al.
European Journal of Biochemistry
|
February 1, 1995
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies
H Bentlage, R de Coo, H ter Laak, et al.
Biology of the Neonate
|
January 1, 1992
Postnatal development of pyruvate oxidation in quadriceps muscle of the rat
W Sperl, R C Sengers, J M Trijbels, et al.
Neurology
|
February 5, 1999
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
M E Rubio-Gozalbo, J A Smeitink, W Ruitenbeek, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
August 26, 1998
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472
R J Ensink, K Verhoeven, H A Marres, et al.
Neuropediatrics
|
November 7, 2007
Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study
M M M Verhagen, N van Alfen, S Pillen, et al.
Neurology
|
July 26, 2006
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
J A P Hiel, B G M van Engelen, C M R Weemaes, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Brain : a Journal of Neurology
|
June 1, 1996
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
P H van Domburg, A A Gabreëls-Festen, F J Gabreëls, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
O Grafakou, F A Hol, K Otfried Schwab, et al.
Neuromuscular Disorders : NMD
|
July 19, 2000
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients
A Verrips, B G van Engelen, H ter Laak, et al.
European Journal of Biochemistry
|
February 1, 1995
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies
H Bentlage, R de Coo, H ter Laak, et al.
Biology of the Neonate
|
January 1, 1992
Postnatal development of pyruvate oxidation in quadriceps muscle of the rat
W Sperl, R C Sengers, J M Trijbels, et al.
Neurology
|
February 5, 1999
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
M E Rubio-Gozalbo, J A Smeitink, W Ruitenbeek, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
August 26, 1998
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472
R J Ensink, K Verhoeven, H A Marres, et al.
Neuropediatrics
|
November 7, 2007
Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study
M M M Verhagen, N van Alfen, S Pillen, et al.
Neurology
|
July 26, 2006
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
J A P Hiel, B G M van Engelen, C M R Weemaes, et al.
Page
of 2