Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Enrique Syriani"'
Autor:
Cecilia Garcia, Jose Manuel Vidal-Taboada, Enrique Syriani, Maria Salvado, Miguel Morales, Josep Gamez
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and
Externí odkaz:
https://doaj.org/article/d9e8f0d81bab46739e829c745689151b
Autor:
Laura Rooney Lorenzo, Josep Gamez, Candi Salvans, Enrique Syriani, Miguel Morales, Maria Salvado, Sonia Cazorla
Publikováno v:
Journal of neurology. 261(12)
Evidence of genetic heterogeneity in ALS has been found, with at least 31 genes being identified to date as causing ALS, and other genes being suggested as risk factors for susceptibility to the disease and for phenotype modifications. In recent year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::596a717a3a4ccc68c9b7de4b9a227b66
https://pubmed.ncbi.nlm.nih.gov/25249294
https://pubmed.ncbi.nlm.nih.gov/25249294
Autor:
Claudia Caponnetto, Enrique Syriani, Cecilia Garrè, Loretta Ferrera, Domenico Bordo, Valeria Marini, Josep Gamez, Miguel Morales, Paola Origone, Cristina Pirro
We evaluated a possible genotype-phenotype correlation and looked for a founder effect in four Mediterranean families carrying the I112M SOD1 mutation. The structural characteristics of the mutated protein were also analysed. Clinical data of FALS su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b162c9e46bdb374a0819ceb92cf6c97
http://hdl.handle.net/11573/86782
http://hdl.handle.net/11573/86782
Publikováno v:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 12(2)
Our objective was to investigate the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort undergoing a mutational study for SOD1 in 2006. We screened 25 probands from non-SOD1 families for FUS/TLS mutations. We identified two FALS proband
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7063c42e77291e0b24690212990a4671
https://pubmed.ncbi.nlm.nih.gov/21128870
https://pubmed.ncbi.nlm.nih.gov/21128870
Publikováno v:
Journal of the neurological sciences. 285(1-2)
Despite the genetic heterogeneity reported in familial ALS (FALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the most frequent cause of FALS, accounting for around 20% of familial cases (ALS1) and isolated sporadic cases. Some mutations ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::085a4a9e7662e1d78b1db4bceee6d8f4
https://pubmed.ncbi.nlm.nih.gov/19524271
https://pubmed.ncbi.nlm.nih.gov/19524271
Autor:
Enrique Syriani, Marta Bosch, Arcadi Gual, Xavier Gasull, Alicia Moya, Elena Abad, Azucena Gomez-Cabrero, Miguel Morales
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 22(5)
Profilin has been implicated in cell motility and in a variety of cellular processes, such as membrane extension, endocytosis, and formation of focal complexes. In vivo, profilin replenish the pool of ATP-actin monomers by increasing the rate of nucl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97241292bab671051832bbe0bc85895
https://pubmed.ncbi.nlm.nih.gov/18184720
https://pubmed.ncbi.nlm.nih.gov/18184720