Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Helena Fussiger"'
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 80, Iss 09, Pp 944-952 (2022)
Establishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists
Externí odkaz:
https://doaj.org/article/b5a79f8496c74d05909edf175b77060f
Autor:
Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, Jonas Alex Morales Saute
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which p
Externí odkaz:
https://doaj.org/article/073d2145390142cba71bb2a8e6f713c7
Autor:
Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially trea
Externí odkaz:
https://doaj.org/article/0efb18fac58149eaa7184750e1d73b5b
Autor:
Samanta Ferraresi Brighente, Paul Vicuña, Ana Luiza Rodrigues Louzada, Gabriela Marchisio Giordani, Helena Fussiger, Marco Antonnio Rocha Dos Santos, Diana Maria Cubillos-Arcila, Pablo Brea Winckler, Jonas Alex Morales Saute
Publikováno v:
PLoS ONE, Vol 16, Iss 11, p e0259397 (2021)
IntroductionThe Hereditary Spastic Paraplegias (HSP) are a group of genetic diseases that lead to slow deterioration of locomotion. Clinical scales seem to have low sensitivity in detecting disease progression, making the search for additional biomar
Externí odkaz:
https://doaj.org/article/6ce0e04d383f43f6895e06e73da0bc83
Autor:
William Alves Martins, Rafael do Amaral Cristovam, Helena Fussiger, Viviane Maria Vedana, Marta Hemb
Publikováno v:
Case Reports in Neurological Medicine, Vol 2016 (2016)
Central core temperature is tightly controlled by hypothalamic centers, a feature that makes sudden changes in body temperature very unusual. A dysfunction of these hypothalamic pathways leads to Shapiro’s syndrome, comprising spontaneous hypotherm
Externí odkaz:
https://doaj.org/article/b11bd5870a0b4cfc8b2a3b6997445ed4
Autor:
Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 6, Pp 339-344
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset atax
Externí odkaz:
https://doaj.org/article/7305d54d2865446c9f3c42c83b3866b0
Autor:
Helena, Fussiger, Bruna Letícia da Silva, Pereira, Janice Pacheco Dias, Padilha, Karina Carvalho, Donis, Marina, Siebert, Ana Carolina, Brusius-Facchin, Guilherme, Baldo, J B, Oliveira
Publikováno v:
Clinical Genetics. 103:580-584
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in SPAST and ATL1 and to
Publikováno v:
Arquivos de Neuro-Psiquiatria, Volume: 80, Issue: 9, Pages: 944-952, Published: 23 JAN 2023
Establishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728c41f45c14d37df15eb515424cf5e7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022001000944&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022001000944&lng=en&tlng=en
Autor:
Fabrício Diniz, José Luiz Pedroso, Júlian Letícia de Freitas, Gabriela Marchisio Giordani, Fernando Kok, Karina Carvalho Donis, Helena Fussiger, Roberta Paiva Magalhães Ortega, Carelis González-Salazar, Fernando Freua, Sérgio Rosemberg, Orlando Graziani Povoas Barsottini, Jonas Alex Morales Saute, Marcondes C. França
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Scientific Reports
The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands a
Autor:
Diana Maria Cubillos-Arcila, Jonas Alex Morales Saute, Paul Vicuña, Helena Fussiger, Samanta Ferraresi Brighente, Pablo Brea Winckler, Gabriela Marchisio Giordani, Ana Luiza Rodrigues Louzada, Marco Antonnio Rocha dos Santos
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 11, p e0259397 (2021)
PLoS ONE, Vol 16, Iss 11, p e0259397 (2021)
Introduction The Hereditary Spastic Paraplegias (HSP) are a group of genetic diseases that lead to slow deterioration of locomotion. Clinical scales seem to have low sensitivity in detecting disease progression, making the search for additional bioma