Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Nazli Basak"'
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
Abstract There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants o
Externí odkaz:
https://doaj.org/article/2c1accb04c5e475dbe0325f3e155c28c
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Ashley R. Jones, Joke J. F. A. van Vugt, Matthieu Moisse, Aleksey Shatunov, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Ross Byrne, Victoria López, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica Povedano Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure
Externí odkaz:
https://doaj.org/article/61449fea63ae4dd59fb2a82311667ab2
Autor:
Konstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, Angeliki Balasopoulou, Kyriaki Charalampidou, Vasiliki Galani, Krystallia-Vassiliki Zafeiri, Efthymios Dardiotis, Styliani Ralli, Georgia Deretzi, Anne John, Kyriaki Kydonopoulou, Elpida Papadopoulou, Alba di Pardo, Fulya Akcimen, Annalisa Loizedda, Valerija Dobričić, Ivana Novaković, Vladimir S. Kostić, Clint Mizzi, Brock A. Peters, Nazli Basak, Sandro Orrù, Evangelos Kiskinis, David N. Cooper, Spyridon Gerou, Radoje Drmanac, Marina Bartsakoulia, Evangelia-Eirini Tsermpini, Georgios M. Hadjigeorgiou, Bassam R. Ali, Theodora Katsila, George P. Patrinos
Publikováno v:
Human Genomics, Vol 11, Iss 1, Pp 1-10 (2017)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation se
Externí odkaz:
https://doaj.org/article/56ac508e4f8647e88e5a5eebcc04cdbd
Autor:
Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additi
Externí odkaz:
https://doaj.org/article/37b028ed777e4060add426ccea440b63
Autor:
Marion Phylipsen, Antonio Amato, Maria Pia Cappabianca, Jan Traeger-Synodinos, Emmanuel Kanavakis, Nazli Basak, Renzo Galanello, Teresa Tuveri, Giovanni Ivaldi, Cornelis L. Harteveld, Piero C. Giordano
Publikováno v:
Haematologica, Vol 94, Iss 9 (2009)
When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presen
Externí odkaz:
https://doaj.org/article/0f581e0f502d4558af91f654eca4b2f0
Publikováno v:
Free Radical Biology and Medicine. 201:57-58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a0340606b2173be9526f835f3bb12b7
https://doi.org/10.1016/j.freeradbiomed.2023.03.232
https://doi.org/10.1016/j.freeradbiomed.2023.03.232
Autor:
Bedia Samanci, Esra Battaloglu, Seden Tezel, Erdi Şahin, Başar Bilgiç, Ayse Candayan, A. Nazli Basak, Hacer Durmus, Yesim Parman, Hasmet Hanagasi, Arman Çakar
Publikováno v:
Acta Neurologica Belgica. 122:939-945
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently, a biallelic intronic AAGGG repeat expans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d1e2100ae43e04ffddb74f5c79656c
https://doi.org/10.1007/s13760-021-01721-2
https://doi.org/10.1007/s13760-021-01721-2
Autor:
A. Nazli Basak, Ceren Tunca, Pinar Gelener, Ersin Tan, Mahmut Cerkez Ergoren, Kerem Teralı, Sevda Diker
Publikováno v:
Acta Neurologica Belgica. 122:955-960
Here, we aim to provide a comprehensive clinical and biomolecular description of familial amyotrophic lateral sclerosis (fALS) in a 25-year-old female patient with respect to the SOD1A4T genotype. The clinical diagnosis of the disease was based on fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea0e2daf9a34bc31f81d67e6024c2998
https://doi.org/10.1007/s13760-020-01588-9
https://doi.org/10.1007/s13760-020-01588-9
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease. There are no pathognomonic tests for ALS prognosis; clinical diagnosis of the disease takes time and is usually difficult. Prognostic biomarkers are urgently needed for rapi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3200074197bf5c66fd1cbb394189f73c
https://doi.org/10.21203/rs.3.rs-1427688/v1
https://doi.org/10.21203/rs.3.rs-1427688/v1
Autor:
A. Nazli Basak, Ahmed S. Emekli, Hasmet Hanagasi, Başar Bilgiç, Hakan Gurvit, Bedia Samanci, Gülşah Şimşir
Publikováno v:
Neurological Sciences. 42:1535-1539
Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8ae9c3ee09dcc4288d2f87bbd195e34
https://doi.org/10.1007/s10072-020-04869-6
https://doi.org/10.1007/s10072-020-04869-6