Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Carlos Eduardo Speck Martins"'
Autor:
Jaime Moritz Brum, Isabela Maria Pinto de Oliveira Rizzo, Walquiria Domingues de Mello, Carlos Eduardo Speck-Martins
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 66, Iss 3a, Pp 545-548 (2008)
Externí odkaz:
https://doaj.org/article/94d2f95477714d62b0f1a2f77bba8546
Autor:
Francineide Sadala de Souza, Osvaldo J. M. Nascimento, Daniel R. Carvalho, Savana Camilla Santos, Maria Cristina Del Negro Barroso Freitas, Eduardo Uchoa Cavalcanti, Carlos Eduardo Speck Martins, Denise da Silva Freitas, Isabela M. P. O. Rizzo, Altamir Monteiro Junior
Publikováno v:
Journal of the peripheral nervous system : JPNSREFERENCES. 26(3)
Background and aim This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bac41bce0ee81926db77050927ebf1f
https://pubmed.ncbi.nlm.nih.gov/34190362
https://pubmed.ncbi.nlm.nih.gov/34190362
Autor:
Mana M. Mehrjouy, Giorgio Paskulin, Antonio Novelli, Mads Bak, Alessandra Renieri, Carlos Eduardo Speck-Martins, Francesco Benedicenti, Claus Hansen, Tiffany Busa, Ana Carolina S. Fonseca, Nadja Ehmke, Niels Tommerup, Angela Maria Vianna-Morgante, Maria Antonietta Mencarelli, Chantal Missirian, Kikue Terada Abe
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. However, the size of the FOXG1 regulatory landscape is uncertain, because the associated topologically associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4a7bcc1c85cf9851e4a1aff69575f2
https://doi.org/10.1038/s41431-017-0011-4
https://doi.org/10.1038/s41431-017-0011-4
Autor:
Christiana Brenner, Carlos Eduardo Speck-Martins, Jaime Moritz Brum, Leandro Tavares Lucato, Claudia da Costa Leite
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 72, Iss 8, Pp 646-647 (2014)
Externí odkaz:
https://doaj.org/article/1e7ab6a751654300bccf89f1deb45f2b
Autor:
Maria Isabel Lima, Altamir Monteiro, Ricardo K. Kalil, Carlos Eduardo Speck Martins, Eni Braga da Silveira, Isabela M. P. O. Rizzo, Francineide S. S. Foltran
Publikováno v:
Ultrastructural Pathology. 31:45-50
Macrophagic myofasciitis (MMF) is an inflammatory myopathy related to aluminum-containing vaccines. Described in 1998, most cases were reported in adults, with only 22 cases being reported in children. Three children aged between 13 months and 3(1/2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e792ea9b1cf2ef4ed068d3997cf0841b
https://doi.org/10.1080/01913120601169550
https://doi.org/10.1080/01913120601169550
Autor:
Luisa Bonafé, Sheela Nampoothiri, Ercan Mihci, Ana Belinda Campos-Xavier, Yasemin Alanay, Nuria Garcia-Segarra, Geert Mortier, Marleen Simon, Eugênia Ribeiro Valadares, Denise P. Cavalcanti, Daniel R. Carvalho, Lauréane Mittaz-Crettol, Carlos Eduardo Speck-Martins, Andrea Superti-Furga, Yolande van Bever
Publikováno v:
American journal of medical genetics: part C: seminars in medical genetics
American journal of medical genetics. Part C Seminars in medical genetics
American journal of medical genetics. Part C Seminars in medical genetics
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox-containing gene, NKX3-2 (formerly known as BAPX1). Because of the rarity of the condition, its diagnostic featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca4c10159ac30b65abb431534ecdb55
https://hdl.handle.net/10067/1007490151162165141
https://hdl.handle.net/10067/1007490151162165141
Autor:
Jaime M. Brum, Mônica M. M. Navarro, Anna L. Soares, Isabela M. P. O. Rizzo, Caio A. Mendonça, Walquiria Domingues de Mello, Maria Tereza I. Pinto, Carlos Eduardo Speck Martins
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia v.32 n.2 2010
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia, Volume: 32, Issue: 2, Pages: 131-135, Published: 30 APR 2010
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia, Volume: 32, Issue: 2, Pages: 131-135, Published: 30 APR 2010
Defeitos na incorporação de N-glicanos nas proteínas humanas ocasionam um grupo de doenças multissistêmicas denominadas coletivamente distúrbios congênitos de glicosilação (DCG). Os DCG manifestam-se na infância com sintomas neurológicos q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5702a005966bcdd62653eeec4b7bb90c
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000200012
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000200012
