- ►hetnet.nl [PDF] S DiMauro, E Bonilla, M Zeviani, S Servidei, … - Journal of Inherited Metabolic Disease, 1987 - Springer The mitochondrial myopathies or encephalomyopathies with known bio- chemical
defects can be divided into 5 groups: (1) defects of mitochondrial transport,
such as CPT deficiency or carnitine deficiencies; (2) defects of substrate ... Cited by 582 - Related articles - BL Direct - All 17 versions
VP Skulachev - BBA-Bioenergetics, 1998 - Elsevier Some time ago, I wrote a review entitled “Uncoupling of respiration and
phosphorylation” for the book “Frontier of Cellular Bioenergetics” [1]. In
that paper I hypothesized that (i) the action of both artificial and ... Cited by 477 - Related articles - All 5 versions
S DiMauro - Current Opinion in Neurology, 1991 - journals.lww.com The metabolic myopathies Salvatore DiMauro Department of Neurology,
Columbia-Presbyterian Medical Center, New York, New York, USA Remarkable
progress has occurred in the metabolic myopathies, especially in the area ... Cited by 105 - Related articles - All 6 versions
RCA Sengers, AM Stadhouders, JMF Trijbels - European journal of pediatrics, 1984 - Springer Curriculum vitae. AM Stadhouders was born in 1927 in Boxtel, The Netherlands. He
graduated in 1956 from the Faculty for Natural Sciences of the State Un&ersity
of Utrecht. In 1958 he was nominated Head of the Department for Electron ... Cited by 95 - Related articles - All 4 versions
S DiMauro, M Hirano, EA Schon - Neurological Sciences, 2000 - Springer First, a qualification is in order: although mitochondrial metabolism is
extremely complex, the term “mitochondrial encephalomyopathy” has come to
indicate a group of disor- ders resulting from defects in one vital ... Cited by 60 - Related articles - BL Direct - All 8 versions
S DiMauro, DL Schotland, E Bonilla, CP Lee, … - Archives of Neurology, 1973 - archneur.highwire.org Histochemical, ultrastructural, and bio- chemical studies were performed on two
muscle biopsy specimens from a 40-year- old man with progressive
ophthalmoplegia, facial and proximal limb weakness. In the first biopsy ... Cited by 49 - Related articles - All 3 versions
DW Green, GJ Grover - BBA-Bioenergetics, 2000 - Elsevier Recent studies on the IF 1 inhibitor protein of the mitochondrial F 1 F 0
-ATPase from molecular biochemistry to possible pathophysiological roles are
reviewed. The apparent mechanism of IF 1 inhibition of F 1 F 0 -ATPase ... Cited by 48 - Related articles - All 2 versions
ZH Hart, CH Chang, EVD Perrin, JS … - Archives of Neurology, 1977 - archneur.highwire.org Deficiencies of lysosomal enzymes are well-established causes of some forms of
progressive mental deterioration.1 Recently, the concept of mitochondrial
encephalopathies has been introduced as "a group of neuro¬ muscular ... Cited by 40 - Related articles - All 3 versions
S DiMauro - BBA-Bioenergetics, 2004 - Elsevier In the field of nuclear DNA (nDNA) mutations, there has been good progress in
our understanding of disorders due to faulty intergenomic communication. Of the
genes responsible for multiple deletions and depletion of mtDNA, mutations ... Cited by 38 - Related articles - All 12 versions
I Tein - Seminars in pediatric neurology, 1996 - Elsevier Disorders of glycogen, lipid or mitochondrial metabolism may cause two main
clinical syndromes, namely (1) progressive weakness (eg, acid maltase,
debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; ... Cited by 37 - Related articles - BL Direct - All 6 versions
