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pro vyhledávání: '"C M, Lourenço"'
Autor:
J M, Politei, G, Gordillo-González, N, Guelbert, C F M, Souza, C M, Lourenço, M L, Solano, M M, Junqueira, T S P C, Magalhães, A M, Martins
Publikováno v:
Journal of Pain and Symptom Management.
The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.1016/j.jpainsymman.2018.03.023. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Art
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edbe47e9344244a116ec9bbb529b89b7
https://doi.org/10.1016/j.jpainsymman.2018.03.020
https://doi.org/10.1016/j.jpainsymman.2018.03.020
Akademický článek
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Autor:
Tyler Mark Pierson, Stephan Züchner, Oumarou Diallo, Katherine V. Bricceno, Nichole D. Hein, Camilo Toro, Craig Blackstone, Bryan J. Traynor, Kenneth H. Fischbeck, Katherine G. Meilleur, Shoji Tsuji, Dennis M.D. Landis, William A. Gahl, Hiroyuki Ishiura, Charles Marques Lourenço, Janel O. Johnson, Guida Landouré, Giovanni Stevanin, Peng Peng Zhu, Garth A. Nicholson, Carlo Rinaldi, Wilson Marques, Modibo Sangare, Fiorella Speziani, Leslie G. Biesecker, Barrington G. Burnett, John K. Fink, John Accardi, Michael A. Gonzalez, Alexandra Durr, Marion Stoll
Publikováno v:
Human mutation, vol 34, iss 10
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85389feab47227efe45546b8cd1b162
https://europepmc.org/articles/PMC3819934/
https://europepmc.org/articles/PMC3819934/
Autor:
Borsatto T; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Sperb-Ludwig F; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Lima SE; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.; Centro Universitário Ritter dos Reis, Porto Alegre, RS, Brazil., S Carvalho MR; Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., S Fonseca PA; Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., S Camelo J Jr; Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., M Ribeiro E; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., F V de Medeiros P; Universidade Federal de Campina Grande, Campina Grande, PB, Brazil., M Lourenço C; Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., F M de Souza C; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Boy R; Departamento de Pediatria, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Félix TM; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., M Bittar C; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., L C Pinto L; Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil., C Neto E; CTN Diagnósticos, Porto Alegre, RS, Brazil., J Blom H; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany., D Schwartz IV; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.
Publikováno v:
PloS one [PLoS One] 2017 May 12; Vol. 12 (5), pp. e0177503. Date of Electronic Publication: 2017 May 12 (Print Publication: 2017).