Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alessandra Starling"'
Autor:
Bernardo Garicochea, Fernanda Christtanini Koyama, Amanda Canato Ferracini, Carolina de Bustamante Fernandes, Andreza Karine Souto, Marcela Lima Bulcao, Ivana Lucia de Oliveira Nascimento, Ana Carolina Branco Neves Silva, Luciana G. Landeiro, Leandro Carvalho Oliveira, Alessandra Starling, Isabela Pessoa Elias Gonçalves, Rayana Elias Maia, Thaiana Aragão Santana, Layla Testa Galindo, Mariano Zalis, Bruno Lemos Ferrari, Rodrigo Dienstmann
Publikováno v:
Journal of Clinical Oncology. 40:10594-10594
10594 Background: As germline testing in BC is becoming more accessible, a large body of evidence from distinct populations is revealing different prevalence of affected genes or recurrent and founder mutations. We evaluated a series of Brazilian BC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f014b8ed62dcab1b691c186bc60cfd9e
https://doi.org/10.1200/jco.2022.40.16_suppl.10594
https://doi.org/10.1200/jco.2022.40.16_suppl.10594
Autor:
Alessandra Starling, Fernando Kok, Agnes L. Nishimura, Lúcia Inês Macedo-Souza, Angelina Maria Martins Lino, Simone Amorim, Karina Lezirovitz, Silvana Santos, Mayana Zatz
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
We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84cfef839ae6e5d519b0581e1382994
https://doi.org/10.1002/ana.20478
https://doi.org/10.1002/ana.20478
Publikováno v:
Journal of Molecular Neuroscience. 21:233-236
Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca4c71e6dd1245d390caad3a66f860f9
https://doi.org/10.1385/jmn:21:3:233
https://doi.org/10.1385/jmn:21:3:233
Autor:
Alessandra Starling, Fernando Kok, Mayana Zatz, Guilherme Mitne, Marcilia Martyn, A Cerqueira, M. Valadares, Zodja Graciani, Carlos Bandeira de Mello Monteiro, Miguel Mitne-Neto, Thomas Deufel, André Pessoa, Christian Beetz, Paulo Hubert, Clarissa Bueno, Anders O H Nygren
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
SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity. The broad spectrum of SPG4 mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e372ef60cbbf94fe7fff0bc7bbe0e950
Autor:
Mayana Zatz, Alessandra Starling
Publikováno v:
The New England journal of medicine. 352(23)
Calpains are members of a large family of Ca2+-dependent proteolytic enzymes. Some are tissue-specific; others are ubiquitous. Poised to digest numerous intracellular proteins, their potential to c...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e1565db8d9f69c79b15ef7bc488614
https://pubmed.ncbi.nlm.nih.gov/15944426
https://pubmed.ncbi.nlm.nih.gov/15944426
Publikováno v:
European journal of human genetics : EJHG. 12(12)
Limb-girdle muscular dystrophy (LGMD) is a genetic disorder characterized by progressive weakness of pelvic and scapular girdles and great clinical variability. It is a highly heterogeneous disease with 16 identified loci: six of them autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3984f69a2254564392438b75868f0a19
https://pubmed.ncbi.nlm.nih.gov/15367920
https://pubmed.ncbi.nlm.nih.gov/15367920
Publikováno v:
Neuromuscular disorders : NMD. 13(7-8)
Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. The 10 genes responsible for the autosomal recessive forms, which account for more than 90% of the cases, had their product i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4549687a2cd74307b58e48e7a2c26401
https://pubmed.ncbi.nlm.nih.gov/12921790
https://pubmed.ncbi.nlm.nih.gov/12921790
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
Autor:
L.U. Yamamoto, Alessandra Starling, Flavia de Paula, R. Pavanello, Natássia M. Vieira, Vincenzo Nigro, Mariz Vainzof, Bruno Lazzari de Lima, Mayana Zatz
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
Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene. Pathogenic changes in the same gene were detected in congenital muscular dystrophy patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d244b77ae9e41fce7b425cadf0de47
Autor:
J Hazan, Mayana Zatz, Sueli K.N. Marie, P Rocco, Maria Rita Passos-Bueno, Alessandra Starling
Publikováno v:
Journal of medical genetics. 39(12)
Hereditary spastic paraplegia (HSP) includes a heterogeneous group of degenerative disorders of the central motor system characterised by progressive spasticity of the lower limbs. The inheritance may be autosomal dominant (AD), autosomal recessive (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8904b1942dfd10e485057abb1e922c1
https://pubmed.ncbi.nlm.nih.gov/12471215
https://pubmed.ncbi.nlm.nih.gov/12471215