Zobrazeno 1 - 10
of 133
pro vyhledávání: '"A Nazli Basak"'
Autor:
Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet
Externí odkaz:
https://doaj.org/article/58585cdc8b73494895f8856cace8556b
Autor:
Zeynep Sena Agim, Melda Esendal, Laurent Briollais, Ozgun Uyan, Mehran Meschian, Luis Antonio Mendoza Martinez, Yongmei Ding, A Nazli Basak, Hilmi Ozcelik
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e53042 (2013)
Schizophrenia is one of the most common and complex neuropsychiatric disorders, which is contributed both by genetic and environmental exposures. Recently, it is shown that NRG1-mediated ErbB4 signalling regulates many important cellular and molecula
Externí odkaz:
https://doaj.org/article/7da15cf6c7744ef19b5496ae999d59a9
Publikováno v:
Free Radical Biology and Medicine. 201:57-58
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)
npj Genomic Medicine
Al Khleifat, A, Iacoangeli, A, van Vugt, J J F A, Bowles, H, Moisse, M, Zwamborn, R A J, van der Spek, R A A, Shatunov, A, Cooper-Knock, J, Topp, S, Byrne, R, Gellera, C, López, V, Jones, A R, Opie-Martin, S, Vural, A, Campos, Y, van Rheenen, W, Kenna, B, Van Eijk, K R, Kenna, K, Weber, M, Smith, B, Fogh, I, Silani, V, Morrison, K E, Dobson, R, van Es, M A, McLaughlin, R L, Vourc'h, P, Chio, A, Corcia, P, de Carvalho, M, Gotkine, M, Panades, M P, Mora, J S, Shaw, P J, Landers, J E, Glass, J D, Shaw, C E, Basak, N, Hardiman, O, Robberecht, W, Van Damme, P, van den Berg, L H, Veldink, J H & Al-Chalabi, A 2022, ' Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis ', NPJ Genomic Medicine, vol. 7, no. 1, 8 . https://doi.org/10.1038/s41525-021-00267-9
Dipòsit Digital de la UB
Universidad de Barcelona
NPJ Genomic Medicine
npj Genomic Medicine
Al Khleifat, A, Iacoangeli, A, van Vugt, J J F A, Bowles, H, Moisse, M, Zwamborn, R A J, van der Spek, R A A, Shatunov, A, Cooper-Knock, J, Topp, S, Byrne, R, Gellera, C, López, V, Jones, A R, Opie-Martin, S, Vural, A, Campos, Y, van Rheenen, W, Kenna, B, Van Eijk, K R, Kenna, K, Weber, M, Smith, B, Fogh, I, Silani, V, Morrison, K E, Dobson, R, van Es, M A, McLaughlin, R L, Vourc'h, P, Chio, A, Corcia, P, de Carvalho, M, Gotkine, M, Panades, M P, Mora, J S, Shaw, P J, Landers, J E, Glass, J D, Shaw, C E, Basak, N, Hardiman, O, Robberecht, W, Van Damme, P, van den Berg, L H, Veldink, J H & Al-Chalabi, A 2022, ' Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis ', NPJ Genomic Medicine, vol. 7, no. 1, 8 . https://doi.org/10.1038/s41525-021-00267-9
Dipòsit Digital de la UB
Universidad de Barcelona
NPJ Genomic Medicine
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate
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
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
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
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:
Duygu Aydemir, Anjum Naeem Malik, Ibrahim Kulac, Ayse Nazli Basak, Ismail Lazoglu, Nuriye Nuray Ulusu
Publikováno v:
Frontiers in Bioengineering and Biotechnology
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, and ALS incidence is increasing worldwide. Patients with ALS have respiratory failure at the disease's end stages, leading to death; thus, the lung is one of the most affect
Autor:
I Halil Kavaklı, Arianna Goracci, Yuval Itan, Ayse Ozhan, Chiara Fallerini, Jean-Laurent Casanova, Cihan Aydin, M Ece Kars, O Emre Onat, Yiming Wu, Cem Atbaşoğlu, A. Nazli Basak, Kaya Bilguvar, Alessandra Renieri, Tayfun Ozcelik, M Allegra Trusso, Meram Can Saka, Seref Gul
Publikováno v:
Journal of Clinical Investigation
J Clin Invest
J Clin Invest
Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse phenotyping approach, we report heterozygous coding variations in the core circadia