Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Reema Paudel"'
Autor:
Samuel S Pappas, Katherine Darr, Sandra M Holley, Carlos Cepeda, Omar S Mabrouk, Jenny-Marie T Wong, Tessa M LeWitt, Reema Paudel, Henry Houlden, Robert T Kennedy, Michael S Levine, William T Dauer
Publikováno v:
eLife, Vol 4 (2015)
Striatal dysfunction plays an important role in dystonia, but the striatal cell types that contribute to abnormal movements are poorly defined. We demonstrate that conditional deletion of the DYT1 dystonia protein torsinA in embryonic progenitors of
Externí odkaz:
https://doaj.org/article/9d4d4dc0369b4370b4eceffea8ccb288
Autor:
Trasanidis, Nikolaos *, Katsarou, Alexia, Ponnusamy, Kanagaraju, Shen, Yao-An, Kostopoulos, Ioannis V., Bergonia, Bien, Keren, Keren, Reema, Paudel, Xiao, Xiaolin, Szydlo, Richard M., Sabbattini, Pierangela M.R., Roberts, Irene A.G., Auner, Holger W., Naresh, Kikkeri N., Chaidos, Aristeidis, Wang, Tian-Li, Magnani, Luca, Caputo, Valentina S. *, Karadimitris, Anastasios *
Publikováno v:
In Blood 31 March 2022 139(13):1939-1953
Autor:
Haonan Lu, Georg Wengert, Hantao Lou, Reema Paudel, Naina Patel, Saral Desai, Bill Crum, Kristofer Linton-Reid, Mitchell Chen, Dongyang Li, Jacey Ip, Francesco Mauri, David J. Pinato, Andrea Rockall, Susan J. Copley, Sadaf Ghaem-Maghami, Eric O. Aboagye
Publikováno v:
Cancer Research. 83:600-600
Tertiary lymphoid structure (TLS) is an ectopic lymphoid organ found in some tumors. The presence of TLS is recently proposed as a predictive biomarker for immune checkpoint inhibitors (ICI) in mutation-driven tumors. It is also associated with progn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9937e69073fb8c3d7f3b73df0f668548
https://doi.org/10.1158/1538-7445.am2023-600
https://doi.org/10.1158/1538-7445.am2023-600
Understanding the biological and clinical impact of copy number aberrations (CNA) for the development of precision therapies in cancer remains an unmet challenge. Genetic amplification of chromosome 1q (chr1q-amp) is a major CNA conferring adverse pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::429f497d3c0130833b65d12ec72850b3
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3203259
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3203259
Autor:
Henry Houlden, Joshua Hersheson, Prochi F. Madon, Yo-Tsen Liu, Reema Paudel, Conceição Bettencourt, Noshir Wadia, Sarah Wiethoff, Joy Desai
Publikováno v:
Cerebellum (London, England)
Autosomal-recessive cerebellar ataxias (ARCA) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6b9b21f777b65b17fcd473241426f2
https://doi.org/10.1007/s12311-016-0769-x
https://doi.org/10.1007/s12311-016-0769-x
Autor:
Fowzan S. Alkuraya, Catherine Mooney, Arif O. Khan, Salah A. Elmalik, Henry Houlden, Hamid Azzedine, Michael C. Kruer, Mohammad M. Kabiraj, Mustafa A. Salih, Jawahir Al-Zahrani, Reema Paudel
Publikováno v:
Gene, vol. 537, no. 2, pp. 352-356
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d168094b147303310ae514dc108fa8b0
https://doi.org/10.1016/j.gene.2013.11.039
https://doi.org/10.1016/j.gene.2013.11.039
Autor:
Kanagaraju Ponnusamy, Aristeidis Chaidos, Holger W. Auner, Keren Keren, Nikolaos Trasanidis, Xiaolin Xiao, Ioannis Kostopoulos, Anastasios Karadimitris, Alexia Katsarou, Reema Paudel, Bien Bergonia, Luca Magnani, Irene Roberts, Valentina S. Caputo, Kikkeri N. Naresh
Publikováno v:
Blood. 134:3760-3760
BACKGROUND: The biological basis for the adverse prognosis of chr1q gain/amplification (1q+) present in ~30% of patients with multiple myeloma (MM) remains ill-defined. The transcription factor (TF) Pre-B-cell leukaemia homeobox 1 (PBX1), encoded on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16406d89f9a8d7c16dd477992086557
https://doi.org/10.1182/blood-2019-124109
https://doi.org/10.1182/blood-2019-124109
Autor:
Katherine A. Fawcett, Kailash P. Bhatia, Henry Houlden, Nicholas W. Wood, Joshua Hersheson, Nicola MacDonald, Mary B. Davis, Alan M. Pittman, John Hardy, Reema Paudel, Horia Stanescu, Eleanna Kara, Niccolo E. Mencacci, Vincent Plagnol, Alan Medlar, Daniah Trabzuni, Mina Ryten, Robert Kleta
Publikováno v:
Annals of Neurology
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. We carried out a genetic linkage ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b343b2b6788df0f180810233455338
https://doi.org/10.1002/ana.23832
https://doi.org/10.1002/ana.23832
Autor:
Henry Houlden, Janice L. Holton, A. Li, Robert Courtney, Robert Johnson, John Hardy, Tamas Revesz, Reema Paudel, Andrew J. Lees
Publikováno v:
Neuropathology and Applied Neurobiology. 39:121-131
Aims: Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration with brain iron accumulation (NBIA), known as pantothenate kinase-associated neurodegeneration (PKAN). Historically, NBIA is consi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1014b320880115113073f202b62e925
https://doi.org/10.1111/j.1365-2990.2012.01269.x
https://doi.org/10.1111/j.1365-2990.2012.01269.x
Publikováno v:
Neuropathology and Applied Neurobiology. 38:520-534
Neuropathology has been the key to understanding the aetiology of many neurological disorders such as Alzheimer's disease, Parkinson's disease, frontotemporal degeneration and cerebellar ataxias. Dystonia shares many clinical features with these cond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c5508b5ef39ae697cff3dec0ad33576
https://doi.org/10.1111/j.1365-2990.2012.01298.x
https://doi.org/10.1111/j.1365-2990.2012.01298.x