Zobrazeno 1 - 10
of 270
pro vyhledávání: '"Susana Pinto"'
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Publikováno v:
Acta Médica Portuguesa, Vol 37, Iss 6 (2024)
N/a.
Externí odkaz:
https://doaj.org/article/49fb4de06c7142a3856f0936b5661e09
Publikováno v:
Education Sciences, Vol 14, Iss 7, p 750 (2024)
Service learning, an educational methodology that intertwines community service with academic instruction, is garnering growing recognition within higher education due to its potential to enrich both research and outreach efforts. By integrating serv
Externí odkaz:
https://doaj.org/article/df6cd2e77b4940268e39a8c09b3d6445
Publikováno v:
RevSALUS, Vol 5, Iss Supii (2024)
Introdução: A hemodiálise em doentes renais crónicos representa a sobrevivência e nesse sentido, existe a preocupação das equipas multidisciplinares com a qualidade de vida destas pessoas e com os indicadores de qualidade. Este centro de hemod
Externí odkaz:
https://doaj.org/article/9bdeca7295e14bbbb685a73eab216d9b
Publikováno v:
RevSALUS, Vol 5, Iss Supii (2024)
Introdução: O conhecimento dos profissionais de saúde deve acompanhar a evidência, especificamente sobre lesões por pressão (LPP) (Moraes et al., 2016), incorporando a terminologia e os conceitos das guidelines de organizações internacionais
Externí odkaz:
https://doaj.org/article/ac45c9feb0da4233a28d1a50b278a2d1
Publikováno v:
New Trends in Qualitative Research, Vol 16 (2023)
Framework This paper explores how a qualitative systematic literature review (SLR) can contribute to our understanding of the trends in upper-limb wearable devices. These devices are pieces of electronic equipment that can be worn as accessories, suc
Externí odkaz:
https://doaj.org/article/7f758ce2dd2f460995a5d67ffcd00adf
Publikováno v:
Education Sciences, Vol 14, Iss 2, p 147 (2024)
Research sustainability and research impact are closely related concepts, both referring to the importance of extending research projects’ outcomes, changes or benefits beyond their period of implementation. However, the prominence assigned to thes
Externí odkaz:
https://doaj.org/article/c9ff3b726bdc45b79ef9adabc1c3408e
Autor:
Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Vincenzo Silani, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-ass
Externí odkaz:
https://doaj.org/article/c69bb290778f47b3905ab577dd0339df
Autor:
Catarina Falcão de Campos, Marta Gromicho, Hilmi Uysal, Julian Grosskreutz, Magdalena Kuzma-Kozakiewicz, Miguel Oliveira Santos, Susana Pinto, Susanne Petri, Michael Swash, Mamede de Carvalho
Publikováno v:
Frontiers in Neurology, Vol 13 (2023)
BackgroundAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2–5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different
Externí odkaz:
https://doaj.org/article/be9d5e7bb0c84084904eba0f3b1d402d
Autor:
Marta Gromicho, Manuel Figueiral, Hilmi Uysal, Julian Grosskreutz, Magdalena Kuzma‐Kozakiewicz, Susana Pinto, Susanne Petri, Sara Madeira, Michael Swash, Mamede deCarvalho
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1181-1192 (2020)
Abstract Objective To investigate disease spread in amyotrophic lateral sclerosis (ALS), and determine the influence of lower (LMN) and upper motor neuron (UMN) involvement. Methods We assessed disease spread in ALS in 1376 consecutively studied pati
Externí odkaz:
https://doaj.org/article/1b7f784640bd445aa0fe91d5f1fa184e