Zobrazeno 1 - 10
of 364
pro vyhledávání: '"als (amyotrophic lateral sclerosis)"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/482d8b8c4fb340e8aa3b76eec13baad3
Autor:
Matthew J. Broadhead, Ani Ayvazian-Hancock, Katherine Doucet, Owen Kantelberg, Lesley Motherwell, Fei Zhu, Seth G. N. Grant, Mathew H. Horrocks, Gareth B. Miles
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Amyotrophic Lateral Sclerosis (ALS) is characterised by a loss of motor neurons in the brain and spinal cord that is preceded by early-stage changes in synapses that may be associated with TAR-DNA-Binding Protein 43 (TDP-43) pathology. Cellular inclu
Externí odkaz:
https://doaj.org/article/e5081c3854aa45ba9122fdc83da492db
Akademický článek
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Autor:
Maria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Magali Frah, Jonas Béal, Gabin Devely, Susana Boluda, Petra Frick, Delphine Bouteiller, Sébastien Dussaud, Pierre Guillabert, Carine Dalle, Magali Dumont, Agnes Camuzat, Dario Saracino, Mathieu Barbier, Gaelle Bruneteau, Phillippe Ravassard, Manuela Neumann, Sophie Nicole, Isabelle Le Ber, Alexis Brice, Morwena Latouche
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic cause of ALS and FTD. This mutation results in toxic gain of function through accumulation of expanded RNA foci and aggregation of abnormally translated dipeptide repeat p
Externí odkaz:
https://doaj.org/article/cf47ec065e0e43cbbe6e3408fa24d68b
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:
Miguel Tábuas-Pereira, Isabel Santana, Elizabeth Gibbons, Kimberly Paquette, Maria Rosário Almeida, Inês Baldeiras, Jose Bras, Rita Guerreiro
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionFrontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD. We aime
Externí odkaz:
https://doaj.org/article/2d6edb0d93be4ea89c5da77b207c031a
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/399ab66e646b4f81ad2f89bd4e633d07
Autor:
Daniel Sommer, Sandeep Rajkumar, Mira Seidel, Amr Aly, Albert Ludolph, Ritchie Ho, Tobias M. Boeckers, Alberto Catanese
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Amyotrophic Lateral Sclerosis (ALS) is an incurable neurodegenerative disease characterized by dysfunction and loss of upper and lower motor neurons (MN). Despite several studies identifying drastic alterations affecting synaptic composition and func
Externí odkaz:
https://doaj.org/article/bd190b2000864ddcbbde57f658f6cbe2
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Inflammation is a shared hallmark between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). For long, studies were conducted on tissues of post-mortem patients and neuroinflammation was thought to be only bystander result of the
Externí odkaz:
https://doaj.org/article/61477fff952f4ac594d64af6eb7b42c4
Autor:
Emma M. Devenney, Kate McErlean, Nga Yan Tse, Jashelle Caga, Thanuja Dharmadasa, William Huynh, Colin J. Mahoney, Margaret Zoing, Srestha Mazumder, Carol Dobson-Stone, John B. Kwok, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Rebekah M. Ahmed, Matthew C. Kiernan
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: This study aimed to establish (1) the pattern and severity of neuropsychiatric symptoms and other non-motor symptoms of sleep and mood, across ALS phenotypes in comparison to bvFTD and (2) the contribution of non-modifiable factors includi
Externí odkaz:
https://doaj.org/article/699516c0614b4b02a87827e30181fbbd