Zobrazeno 1 - 10
of 230
pro vyhledávání: '"Salmo Raskin"'
Autor:
Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Abstract Bi‐allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and
Externí odkaz:
https://doaj.org/article/a871963bb6444806854fed86a9acdb13
Autor:
Alexandra Prufer de Queiroz Campos Araújo, Clarisse Pereira Dias Drumond Fortes, Flavia Nardes, Eduardo Jorge, Salmo Raskin
Publikováno v:
Residência Pediátrica, Vol 13, Iss 4 (2023)
OBJECTIVE: Help the pediatrician in the suspicion of neuromuscular diseases when the child has complaints or altered findings in neuropsychomotor development, presenting one review on the topic. METHODOLOGY: Non-systematic literature review using ar
Externí odkaz:
https://doaj.org/article/8c4369fa587443caadf7b77348b23a9e
Autor:
Gustavo Henrique Morcelli da Costa, Eduarda Scoto Dias, Naiara Bozza Pegoraro, Camila Nemetz Kohler, Salmo Raskin, Liya Regina Mikami
Publikováno v:
Einstein (São Paulo), Vol 21 (2023)
ABSTRACT A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes i
Externí odkaz:
https://doaj.org/article/de885217143942aab0003f9d3b0c9ad0
Autor:
Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin, Liya Regina Mikami
Publikováno v:
Revista Paulista de Pediatria, Vol 42 (2023)
ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, i
Externí odkaz:
https://doaj.org/article/bc51b3b8149745cea0f53639468c9976
Autor:
Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami
Publikováno v:
Revista Paulista de Pediatria, Vol 41 (2023)
ABSTRACT Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are cop
Externí odkaz:
https://doaj.org/article/b8184e7536c34444a1c02dd4cf070e58
Autor:
Salmo Raskin
Publikováno v:
Jornal de Pediatria, Vol 97, Iss 4, Pp 378-386 (2021)
Objective: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disea
Externí odkaz:
https://doaj.org/article/0a4d1496514e4ca3bb6e2ff9d998fc0d
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 9, Pp 576-585 (2020)
ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the A
Externí odkaz:
https://doaj.org/article/7807f1d7cbe24842ab1c5aa05949ff30
Autor:
Gustavo Leite Franklin, Carlos Henrique Ferreira Camargo, Daniel Balaban, João Matheus Marcon, Salmo Raskin, Alex Tiburtino Meira, Hélio Afonso Ghizoni Teive
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 4, Pp 718-719 (2022)
Externí odkaz:
https://doaj.org/article/308ca43565b44e69a65f8fc5d52f105c
Autor:
Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso G. Teive
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-8 (2019)
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs – clinical, laboratorial, and neuroradi
Externí odkaz:
https://doaj.org/article/ae3f53f219954ca9bcbffbf2854c648b
Autor:
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 12, p 6868 (2022)
Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated wit
Externí odkaz:
https://doaj.org/article/ebdd170c139e495eb2f2fca6995646bd