S
Samir Kumar-Singh
Researcher at University of Antwerp
Publications - 113
Citations - 9446
Samir Kumar-Singh is an academic researcher from University of Antwerp. The author has contributed to research in topics: Frontotemporal lobar degeneration & Internal medicine. The author has an hindex of 46, co-authored 99 publications receiving 8451 citations. Previous affiliations of Samir Kumar-Singh include Flanders Institute for Biotechnology.
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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Marc Cruts,Ilse Gijselinck,Julie van der Zee,Sebastiaan Engelborghs,Hans Wils,Daniel Pirici,Rosa Rademakers,Rik Vandenberghe,Bart Dermaut,Jean-Jacques Martin,Cornelia M. van Duijn,Karin Peeters,Raphael Sciot,Patrick Santens,Tim De Pooter,Maria Mattheijssens,Marleen Van den Broeck,Ivy Cuijt,Krist'l Vennekens,Peter Paul De Deyn,Samir Kumar-Singh,Christine Van Broeckhoven +21 more
TL;DR: It is demonstrated that FTDU-17 is caused by mutations in the gene coding for progranulin (PGRN), a growth factor involved in multiple physiological and pathological processes including tumorigenesis, and evidence that P GRN haploinsufficiency leads to neurodegeneration because of reduced PGRN-mediated neuronal survival is provided.
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Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
Ian R. A. Mackenzie,Manuela Neumann,Eileen H. Bigio,Nigel J. Cairns,Irina Alafuzoff,Jillian J. Kril,Gabor G. Kovacs,Bernardino Ghetti,Glenda M. Halliday,Ida E. Holm,Paul G. Ince,Wouter Kamphorst,Tamas Revesz,Annemieke J.M. Rozemuller,Samir Kumar-Singh,Haruhiko Akiyama,Atik Baborie,Salvatore Spina,Dennis W. Dickson,John Q. Trojanowski,David M. A. Mann +20 more
TL;DR: A system of nosology was introduced that grouped the FTLD subtypes into broad categories, based on the molecular defect that is most characteristic, according to current evidence, and provided a concise and consistent terminology that has now been widely adopted in the literature.
Journal ArticleDOI
Identification of a novel plasmid-mediated colistin-resistance gene, mcr-2, in Escherichia coli, Belgium, June 2016.
Basil Britto Xavier,Christine Lammens,Rohit Ruhal,Samir Kumar-Singh,Patrick Butaye,Patrick Butaye,Herman Goossens,Surbhi Malhotra-Kumar +7 more
TL;DR: Prevalence of mcr-2 in porcine colistin-resistant E. coli (11/53) in Belgium was higher than that of mCr-1 (7/53), and data call for an immediate introduction of mCR-2 screening in ongoing molecular epidemiological surveillance of colistIn-resistant Gram-negative pathogens.
Journal ArticleDOI
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
Hans Wils,Gernot Kleinberger,Jonathan Janssens,Sandra Pereson,Geert Joris,Ivy Cuijt,Veerle Smits,Chantal Ceuterick-de Groote,Christine Van Broeckhoven,Samir Kumar-Singh +9 more
TL;DR: A dose-dependent degeneration of cortical and spinal motor neurons and development of spastic quadriplegia reminiscent of ALS are shown and findings suggest that ≈25-kDa TDP-43 CTFs are noxious to neurons by a gain of aberrant nuclear function.
Journal ArticleDOI
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Vivianna M. Van Deerlin,Patrick M. A. Sleiman,Maria Martinez-Lage,Maria Martinez-Lage,Alice Chen-Plotkin,Li-San Wang,Neill R. Graff-Radford,Dennis W. Dickson,Rosa Rademakers,Bradley F. Boeve,Murray Grossman,Steven E. Arnold,David M. A. Mann,Stuart Pickering-Brown,Harro Seelaar,Peter Heutink,John C. van Swieten,Jill R. Murrell,Bernardino Ghetti,Salvatore Spina,Salvatore Spina,Jordan Grafman,John R. Hodges,Maria Grazia Spillantini,Sid Gilman,Andrew P. Lieberman,Jeffrey Kaye,Randall L. Woltjer,Eileen H. Bigio,M.-Marsel Mesulam,Safa Al-Sarraj,Claire Troakes,Roger N. Rosenberg,Charles L. White,Isidro Ferrer,Albert Lladó,Manuela Neumann,Hans A. Kretzschmar,Christine M. Hulette,Kathleen A. Welsh-Bohmer,Bruce L. Miller,Ainhoa Alzualde,Adolfo López de Munain,Ann C. McKee,Ann C. McKee,Marla Gearing,Allan I. Levey,James J. Lah,John Hardy,Jonathan D. Rohrer,Tammaryn Lashley,Ian R. A. Mackenzie,Howard Feldman,Ronald L. Hamilton,Steven T. DeKosky,Julie van der Zee,Julie van der Zee,Samir Kumar-Singh,Samir Kumar-Singh,Christine Van Broeckhoven,Christine Van Broeckhoven,Richard Mayeux,Jean Paul G. Vonsattel,Juan C. Troncoso,Jillian J. Kril,John B.J. Kwok,Glenda M. Halliday,Thomas D. Bird,Paul G. Ince,Pamela J. Shaw,Nigel J. Cairns,John C. Morris,Catriona McLean,Charles DeCarli,William G. Ellis,Stefanie H. Freeman,Matthew P. Frosch,John H. Growdon,Daniel P. Perl,Mary Sano,Mary Sano,David A. Bennett,Julie A. Schneider,Thomas G. Beach,Eric M. Reiman,Bryan K. Woodruff,Jeffrey L. Cummings,Harry V. Vinters,Carol A. Miller,Helena C. Chui,Irina Alafuzoff,Irina Alafuzoff,Päivi Hartikainen,Danielle Seilhean,Douglas Galasko,Eliezer Masliah,Carl W. Cotman,M. Teresa Tũón,M. Cristina Caballero Martínez,David G. Munoz,Steven L. Carroll,Daniel C. Marson,Peter Riederer,Nenad Bogdanovic,Gerard D. Schellenberg,Hakon Hakonarson,John Q. Trojanowski,Virginia M.-Y. Lee +107 more
TL;DR: It is found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM 106B, which implicate variants in TMEM106B as a strong risk factor for FTLD, suggesting an underlying pathogenic mechanism.