Zobrazeno 1 - 10
of 256
pro vyhledávání: '"M, Polke"'
Autor:
Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
Publikováno v:
Biomolecules, Vol 13, Iss 11, p 1567 (2023)
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In
Externí odkaz:
https://doaj.org/article/4ceed51d35294359b85fc944f493cbbf
Autor:
Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7507 (2021)
Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that res
Externí odkaz:
https://doaj.org/article/19917918fd22477d8a31b6f07fe8f781
Autor:
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 22-31 (2017)
Abstract Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repea
Externí odkaz:
https://doaj.org/article/1f8b61ee6cea4757929c90eeb5c2d015
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-5 (2017)
Abstract Background Benign central airway tumors are very rare diseases. Their unspecific symptoms are responsible for late diagnosis. Endoscopic interventions with different techniques and tools are widely used for their treatment. However, in certa
Externí odkaz:
https://doaj.org/article/68c4ac04741f463fa50d98595a600960
Autor:
K Buschulte, C Ganter, M Wijsenbeek, N Kahn, K Kriegsmann, P Höger, F Wilkens, M Polke, M Kreuter
Publikováno v:
63. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e. V..
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6621e3c4028bfac3e90569e3cf4a018e
https://doi.org/10.1055/s-0043-1760917
https://doi.org/10.1055/s-0043-1760917
Autor:
M Polke, N Polke, S Piel, E Brunnemer, J Wälscher, K Buschulte, A Warth, C Heußel, M Eichinger, L Frankenstein, M Eichhorn, S Miliauskas, F Herth, M Kreuter
Publikováno v:
63. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e. V..
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::deb3d80d9dd4b3b321d236cd3c27caa1
https://doi.org/10.1055/s-0043-1760973
https://doi.org/10.1055/s-0043-1760973
Akademický článek
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Autor:
Antoinette O'Connor, Emily Abel, Andrea Lessa Benedet, Teresa Poole, Nicholas Ashton, Philip Simon John Weston, Amanda J Heslegrave, Natalie Ryan, Suzie Barker, James M Polke, Kaj Blennow, Henrik Zetterberg, Nick C Fox
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c79c5abc333d4e442bc0e13b713306e
https://doi.org/10.1136/jnnp-2022-329663
https://doi.org/10.1136/jnnp-2022-329663
Autor:
Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci
Publikováno v:
Cells, Vol 9, Iss 4, p 1028 (2020)
The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the RAB7A gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-abse
Externí odkaz:
https://doaj.org/article/e40e8ec09c7a4d0ba4d9b2060ea96573
Autor:
Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct
Externí odkaz:
https://doaj.org/article/15eee59640234cc3a342ef919bb83ae9