Search

Author/Creator van Blitterswijk, Marka

1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Issue 6 (4th April 2014)

Authors:
Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Ales...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 6(2014)
Page Start:
419
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. (August 2017)

Authors:
Finch, NiCole A.; Wang, Xue; Baker, Matthew C.; Heckman, Michael G.; Gendron, Tania F.; Bieniek, Kevin F.; Wuu, Joanne; DeJesus-Hernandez, Mariely; Brown, Patricia H.; Chew, Jeannie; Jansen-West, Karen R.; Daughrity, Lillian M.; Nicholson, Alexandra M.; Murray, Melissa E.; Josephs, Keith A.; Pari...
Journal:
Neurology
Issue:
Volume 3:Number 4(2017)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Issue 1 (8th January 2020)

Authors:
Ramos, Eliana Marisa; Dokuru, Deepika Reddy; Van Berlo, Victoria; Wojta, Kevin; Wang, Qing; Huang, Alden Y.; Deverasetty, Sandeep; Qin, Yue; van Blitterswijk, Marka; Jackson, Jazmyne; Appleby, Brian; Bordelon, Yvette; Brannelly, Patrick; Brushaber, Danielle E.; Dickerson, Bradford; Dickinson, Sus...
Journal:
Alzheimer's & dementia
Issue:
Volume 16:Issue 1(2020)
Page Start:
118
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Issue 6 (June 2018)

Authors:
Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B; Baker, Matt; Jenkins, Gregory D; Serie, Daniel J; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; López de Munain, Adolfo; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sánchez-Valle, Raquel; Antone...
Journal:
Lancet neurology
Issue:
Volume 17:Issue 6(2018)
Page Start:
548
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Issue 5 (September 2013)

Authors:
van Blitterswijk, Marka; Baker, Matthew C.; Bieniek, Kevin F.; Knopman, David S.; Josephs, Keith A.; Boeve, Bradley; Caselli, Richard; Wszolek, Zbigniew K.; Petersen, Ronald; Graff-Radford, Neill R.; Boylan, Kevin B.; Dickson, Dennis W.; Rademakers, Rosa
Journal:
Amyotrophic lateral sclerosis and frontotemporal degeneration
Issue:
Volume 14:Issue 5/6(2013)
Page Start:
463
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. (16th June 2017)

Authors:
Prudencio, Mercedes; Gonzales, Patrick K.; Cook, Casey N.; Gendron, Tania F.; Daughrity, Lillian M.; Song, Yuping; Ebbert, Mark T.W.; van Blitterswijk, Marka; Zhang, Yong-Jie; Jansen-West, Karen; Baker, Matthew C.; DeTure, Michael; Rademakers, Rosa; Boylan, Kevin B.; Dickson, Dennis W.; Petrucell...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 17(2017:Sep. 01)
Page Start:
3421
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis. (12th February 2022)

Authors:
Nel, Melissa; Mahungu, Amokelani C.; Monnakgotla, Nomakhosazana; Botha, Gerrit R.; Mulder, Nicola J.; Wu, Gang; Rampersaud, Evadnie; van Blitterswijk, Marka; Wuu, Joanne; Cooley, Anne; Myers, Jason; Rademakers, Rosa; Taylor, J. Paul; Benatar, Michael; Heckmann, Jeannine M.
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis. (12th February 2022)

Authors:
Nel, Melissa; Mahungu, Amokelani C.; Monnakgotla, Nomakhosazana; Botha, Gerrit R.; Mulder, Nicola J.; Wu, Gang; Rampersaud, Evadnie; van Blitterswijk, Marka; Wuu, Joanne; Cooley, Anne; Myers, Jason; Rademakers, Rosa; Taylor, J. Paul; Benatar, Michael; Heckmann, Jeannine M.
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis. (February 2022)

Authors:
Nel, Melissa; Mahungu, Amokelani C.; Monnakgotla, Nomakhosazana; Botha, Gerrit R.; Mulder, Nicola J.; Wu, Gang; Rampersaud, Evadnie; van Blitterswijk, Marka; Wuu, Joanne; Cooley, Anne; Myers, Jason; Rademakers, Rosa; Taylor, J. Paul; Benatar, Michael; Heckmann, Jeannine M.
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression. (23rd January 2018)

Authors:
McGoldrick, Philip; Zhang, Ming; van Blitterswijk, Marka; Sato, Christine; Moreno, Danielle; Xiao, Shangxi; Zhang, Ashley B.; McKeever, Paul M.; Weichert, Anna; Schneider, Raphael; Keith, Julia; Petrucelli, Leonard; Rademakers, Rosa; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina
Journal:
Neurology
Issue:
Volume 90:Number 4(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗