Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Paul Moreira"'
Autor:
Isabel Tavares, Luísa Lobato, Carlos Matos, Josefina Santos, Paul Moreira, Maria João Saraiva, António Castro Henriques
Publikováno v:
Case Reports in Nephrology, Vol 2015 (2015)
Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on
Externí odkaz:
https://doaj.org/article/8570765fcbec47599a18ade3d4f14240
Autor:
Miguel Munar-Qués, Teresa Coelho, Paul Moreira, Carlos Viader-Farré, Jaime Masjuan, Maria João Saraiva
Publikováno v:
Amyloid. 14:147-152
We present two families, from Spain and Portugal, with familial amyloid polyneuropathy (FAP) associated with the mutation TTRSer50Arg. This mutation was first described in two Japanese patients from independent families and later in a French-Italian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4279e95ef6f2b7b0862bffcd5518193
https://doi.org/10.1080/13506120701259580
https://doi.org/10.1080/13506120701259580
Autor:
Paul Moreira, Carlos Viader-Farré, Miguel Munar-Qués, J. M. López Domínguez, Maria João Saraiva
Publikováno v:
CIÊNCIAVITAE
Scopus-Elsevier
Scopus-Elsevier
Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab33d77b29cff48d74318bdf36972c7
https://pubmed.ncbi.nlm.nih.gov/11409034
https://pubmed.ncbi.nlm.nih.gov/11409034
Autor:
MaryAnn Gawinowicz, Maria do Rosário Almeda, Paul Moreira, Silke Rauh, Pedro P. Costa, Maria João Saraiva, Klaus Altland
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
CIÊNCIAVITAE
A basic transthyretin (TTR) variant, apparently non-pathogenic, has been reported in a German family. Protein analysis of this TTR variant revealed the substitution of arginine for proline at position 102 of the TTR polypeptide chain. This result was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0975649689a9d584867528f6a657ffb3
https://doi.org/10.1016/0925-4439(91)90039-c
https://doi.org/10.1016/0925-4439(91)90039-c
Publikováno v:
Endocrinology. 128(2)
The effect of fasting on insulin-like growth factor-binding protein-1 (IGFBP-1) expression was examined in the rat. Food deprivation for a period of 24 h resulted in a 9.5 +/- 2.0-fold increase in hepatic IGFBP-1 mRNA abundance (P less than 0.001). A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c6c0b800621d7185825c9979006b3e
https://pubmed.ncbi.nlm.nih.gov/1703482
https://pubmed.ncbi.nlm.nih.gov/1703482
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
CIÊNCIAVITAE
We present a Spanish patient with familial amyloidotic polyneuropathy associated with the TTR Thr49Ile mutation previously described in a Japanese patient. This is the first report in a Caucasian patient and the second in the literature. Age of onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f86428686694bff2aada030bbbaa81e2
http://www.scopus.com/inward/record.url?eid=2-s2.0-0242499978&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0242499978&partnerID=MN8TOARS
