Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fernanda Veiga De Goes"'
Autor:
Tayla Taynan Romão, Abraão Iuri Medeiros Angelim, Henrique Jannuzzelli Pires do Prado, Fernanda Veiga de Goes, Maria Elisa Paiva Pires, Rosiane da Silva Fontana, Lais de Carvalho Pires, Alexandre Ribeiro Fernandes, Isabella D'Andrea-Meira
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 80, Iss 11, Pp 1090-1096 (2022)
Background Lacosamide (LCM) is a third-generation anti-seizure drug approved in Europe and the United States, either as a monotherapy or adjunctive therapy, to treat partial-onset seizures in adults, adolescents, and children. In Brazil, LCM is licen
Externí odkaz:
https://doaj.org/article/626c334377fa4fcabb42e4e643025fc7
Autor:
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0185713 (2017)
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, foll
Externí odkaz:
https://doaj.org/article/1664d8144a7346c39bd9e139dfa76002
Autor:
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig
Publikováno v:
Brain, 145(5), 1668-1683. Oxford University Press
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::151b25ac565ddc4ef4cb44137115e932
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxK
Autor:
João I.C.F. Neri, Isabel Cristina Bandeira, Maria Isabel Achatz, Patricia Ashton-Prolla, Raquel Silva, Filippo Vairo, Cristina Brinckmann Oliveira Netto, Fernanda Veiga De Goes, Mireille Caroline Silva De Miranda Gomes, Clévia Rosset, Rudinei Luis Correia, Henrique de Campos Reis Galvão, Larissa Souza Mario Bueno
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0185713 (2017)
PLoS ONE
PLoS ONE
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, foll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d169df87717241b614a692d5fd268b41
https://doi.org/10.1371/journal.pone.0185713
https://doi.org/10.1371/journal.pone.0185713
Autor:
Zina Maria Almeida de Azevedo, Karla Gonçalves Camacho, Daniella Mancino da Luz Caixeta, Fernanda Lima-Setta, Tania Regina Dias Saad Salles, Fernanda Veiga de Góes, Marcio Fernandes Nehab, Carlos Eduardo da Silva Figueiredo, Maria de Fátima Monteiro Pereira Leite, Zilton Farias Meira de Vasconcelos, Juliana Gil Melgaço, Ana Paula Dinis Ano Bom, Daniella Campelo Batalha Cox Moore
Publikováno v:
Revista da Sociedade Brasileira de Medicina Tropical, Vol 54 (2021)
Abstract This report describes a case of multisystem inflammatory syndrome in a child that evolved with a pattern of toxic shock syndrome with coronary artery ectasia and neurological involvement, documented by magnetic resonance imaging, with change
Externí odkaz:
https://doaj.org/article/5ad6da32cbbd4f7fb8d92daed8f06268
Publikováno v:
Revista Brasileira de Saúde Materno Infantil, Vol 15, Iss 1, Pp 47-55 (2015)
Objectives: to assess cognitive, motor, and language development in preterm infants, and perinatal, neonatal and socioeconomic factors associated with abnormal development. Methods: a cross-sectional study was carried out with 104 preterm infants (ge
Externí odkaz:
https://doaj.org/article/5c83441a6b9e496ea10cf0658ae68033
Autor:
Rosiane da Silva Fontana, Márcio Moacyr de Vasconcelos, Jairo Werner Jr., Fernanda Veiga de Góes, Edson Ferreira Liberal
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 65, Iss 1, Pp 134-137 (2007)
OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em crianças de quatro escolas públicas brasileiras. MÉTODO: Estudo de prevalência. A população consistiu em todos os alunos de 1ª à 4ª séries d
Externí odkaz:
https://doaj.org/article/351173e7e7644ca2a4bef6b15830a2b3