Zobrazeno 1 - 10
of 98
pro vyhledávání: '"T. Uemichi"'
Publikováno v:
Acta Neurologica Scandinavica. 106:213-217
Azuma T, Uemichi T, Funauchi M, Nagai Y, Matsubara T. Ambulatory blood pressure monitoring in patients with spinocerebellar degeneration. Acta Neurol Scand 2002: 106: 213–217. © Blackwell Munksgaard 2002. Objectives– The aim of this study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6601ec6cf38b68aa4dfed21c414cf55
https://doi.org/10.1034/j.1600-0404.2002.01354.x
https://doi.org/10.1034/j.1600-0404.2002.01354.x
Autor:
Juris J. Liepnieks, Merrill D. Benson, Emmanuel Desjoyaux, Marc Delpech, Robert Loire, Georges Moulin, Kamran Hamidi Asl, T. Uemichi, Ladan Hamidi Asl, Gilles Grateau
Publikováno v:
The American Journal of Pathology. 154:221-227
Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5630b32dbee565eff154f95e3177f350
https://doi.org/10.1016/s0002-9440(10)65268-6
https://doi.org/10.1016/s0002-9440(10)65268-6
Publikováno v:
Neurology. 48:1667-1670
A 63-year-old white man of Ecuadorian origin had a subarachnoid hemorrhage at age 57 followed by numbness and paresthesia in his lower extremities. He subsequently developed sexual impotence, alternating constipation and diarrhea, urinary frequency,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb14be14aa01c837bfea5895c185720
https://doi.org/10.1212/wnl.48.6.1667
https://doi.org/10.1212/wnl.48.6.1667
Publikováno v:
QJM. 89:745-750
Hereditary amyloidosis of an unusual form has been reported in two separate kindreds; one was Polish-Canadian and the other was Irish-American (Am J Med 1975; 59:121 and Trans Assoc Am Physicians 1981; 94:211). In both kindreds, affected members deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eadb080cdc75da9f316594d23a63001c
https://doi.org/10.1093/qjmed/89.10.745
https://doi.org/10.1093/qjmed/89.10.745
Publikováno v:
Clinical Chemistry. 41:1288-1291
Retinol-binding protein (RBP), the principal carrier for vitamin A, is known to form a complex with transthyretin (TTR) for transport in plasma. Individuals from a kindred with the amino acid substitution of serine for isoleucine at position 84 (Ser8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b666aca825d934575e94577141c51c3a
https://doi.org/10.1093/clinchem/41.9.1288
https://doi.org/10.1093/clinchem/41.9.1288
Publikováno v:
Amyloid. 2:114-118
Familial amyloidotic polyneuropathy occurs most often as a result of mutations within the transthyretin (TTR) gene. Several of these mutations have been identified in multiple kindreds from different geographic and ethnic origins. In the present pape
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68320586087c352272a70ca7e1b08fe2
https://doi.org/10.3109/13506129509031896
https://doi.org/10.3109/13506129509031896
Publikováno v:
Amyloid. 1:149-153
We examined the transthyretin gene of a German individual by direct DNA sequencing and found a guanine to cytosine transversion at the first base ofcodon 74 which resulted in a replacement ofhistidinefor aspartic acid. This mutation was confirmed by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f63785d8390e13bb142b5b60362567ae
https://doi.org/10.3109/13506129409148445
https://doi.org/10.3109/13506129409148445
Publikováno v:
Nature Genetics. 3:252-255
Three members of a family who died with renal amyloidosis were found to share a single nucleotide substitution in the fibrinogen alpha-chain gene. The predicted arginine to leucine mutation (Arg554Leu) was proven by amino acid sequence analysis of am
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185b91f2ad265cc97ab81b5dd4bb9b89
https://doi.org/10.1038/ng0393-252
https://doi.org/10.1038/ng0393-252
Publikováno v:
Journal of Medical Genetics. 29:888-891
We report a new kindred with systemic amyloidosis presenting as peripheral neuropathy in the sixth and seventh decades of life. Polymorphism in exon 2 of the transthyretin (TTR) gene was suggested by single strand conformation polymorphism analysis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0f0f02f7304d5a7e0a3bf5d444d6fb
https://doi.org/10.1136/jmg.29.12.888
https://doi.org/10.1136/jmg.29.12.888
Autor:
Barbara Kluve-Beckerman, D Hanes, Juris J. Liepnieks, Jill R. Murrell, Merrill D. Benson, T. Uemichi
Publikováno v:
Ciba Foundation Symposium 199 - The Nature and Origin of Amyloid Fibrils
Metabolic processing of amyloid precursor proteins is an important factor in the genesis of practically all forms of amyloidosis. Of the three major forms of systemic amyloidosis, reactive amyloid (amyloid A protein; AA) formation shows the most cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b5690d5c7cc17457c05bc9bb2e9c29c
https://doi.org/10.1002/9780470514924.ch7
https://doi.org/10.1002/9780470514924.ch7
