Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Sindu, Krishna"'
Autor:
Ali Naini, Michio Hirano, Caterina Garone, Sindu Krishna, Catarina M. Quinzii, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f01bae30505c446ec8590cd234e7261
http://hdl.handle.net/11585/716597
http://hdl.handle.net/11585/716597
Publikováno v:
Muscle & Nerve. 41:707-710
A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02a48c62312c4e7ca221ef21f02ff7ff
https://doi.org/10.1002/mus.21612
https://doi.org/10.1002/mus.21612
Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations
Autor:
Salvatore DiMauro, Ronen Spiegel, Estela Area Gomez, Sindu Krishna, Hasan O. Akman, Yoseph Horovitz
Publikováno v:
Neuromuscular Disorders. 19:207-211
We describe an 18-year-old man with muscle cramps and recurrent exertional myoglobinuria, without hemolytic anemia or brain dysfunction. Phosphoglycerate kinase (PGK) deficiency was documented in muscle and erythrocytes and molecular analysis of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5a0dcfad9c655b1dd102fa1f0cc7ae
https://doi.org/10.1016/j.nmd.2008.12.004
https://doi.org/10.1016/j.nmd.2008.12.004
Autor:
Catarina M. Quinzii, Ali Naini, Markus Schuelke, Michio Hirano, Leonardo Salviati, Sindu Krishna, Plácido Navas, Luis C. López, Salvatore DiMauro, Jakob Von-Moltke
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
12 páginas, 8 figuras, 2 tablas.
Coenzyme Q10 (CoQ10) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. Last year, we reported the first mutations in CoQ10 biosynthetic genes, COQ2, which encode
Coenzyme Q10 (CoQ10) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. Last year, we reported the first mutations in CoQ10 biosynthetic genes, COQ2, which encode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bb872161af88e334333a08cb43d776f
https://doi.org/10.1096/fj.07-100149
https://doi.org/10.1096/fj.07-100149
Autor:
Sindu Krishna, Jorida Coku, Salvatore DiMauro, Sara Shanske, Jacklyn Pancrudo, Orhan H. Akman, Rebecca Mardach, Eduardo Bonilla, Jiesheng Lu
Publikováno v:
Neuromuscular Disorders. 17:651-654
A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cfdcba764037d0fad3f24560da272df
https://doi.org/10.1016/j.nmd.2007.04.005
https://doi.org/10.1016/j.nmd.2007.04.005
Autor:
Pearl S. Rosenbaum, Saumil N. Merchant, Karen M. Weidenheim, Yelena Lindenbaum, Isabelle Rapin, Sindu Krishna, Dennis W. Dickson
Publikováno v:
Journal of Child Neurology. 21:991-1006
Cockayne syndrome and xeroderma pigmentosum—Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea1c090b1e288e7f038b866cb67d72a
https://doi.org/10.1177/08830738060210110101
https://doi.org/10.1177/08830738060210110101
Autor:
Carolyn M. Sue, Salvatore DiMauro, Kurenai Tanji, Romaine Schubert, Sara Shanske, Eduardo Bonilla, Joceline Ojaimi, Sindu Krishna, Cigdem I. Akman
Publikováno v:
Journal of Child Neurology. 19:258-261
A 3½-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e86ff4cec587bdb6202e8f573bb3a980
https://doi.org/10.1177/088307380401900403
https://doi.org/10.1177/088307380401900403
Autor:
Sara Shanske, Yutaka Nishigaki, Jose Carlo, Judith P. Willner, Carolyn M. Sue, Kurenai Tanji, Eric A. Schon, Salvatore DiMauro, Yingying Tang, Sindu Krishna, Eduardo Bonilla, Michio Hirano
Publikováno v:
The American Journal of Human Genetics. 71(3):679-683
Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8140a190270288087dfeb934241a013
Autor:
Salvatore DiMauro, Antonio L. Andreu, Kurenai Tanji, Georgios M. Hadjigeorgiou, Alexander Shtilbans, Claudio Bruno, Sindu Krishna, T. C. Dunne, Eduardo Bonilla, Carolyn M. Sue, S. Shanske
Publikováno v:
Annals of Neurology. 45:127-130
We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria associated with complex III deficiency in muscle. The point mutation results in the replacement of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f0afd0c56bfb43ba8a8e6f012a846d8
https://doi.org/10.1002/1531-8249(199901)45:1<127::aid-art20>3.0.co
https://doi.org/10.1002/1531-8249(199901)45:1<127::aid-art20>3.0.co
Autor:
Michio Hirano, Alexander Shtilbans, Sindu Krishna, Claudio Bruno, D. S. Systrom, Robert H. Brown, S. Shanske, Lawrence J. Hayward, Antonio L. Andreu, Salvatore DiMauro
Publikováno v:
Neurology. 51:1444-1447
A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6aca8e039bebf56c6978554868ad66
https://doi.org/10.1212/wnl.51.5.1444
https://doi.org/10.1212/wnl.51.5.1444