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Marka van Blitterswijk
Marka van Blitterswijk
Associate Professor of Neuroscience, Mayo Clinic, USA
Geverifieerd e-mailadres voor mayo.edu
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
PEA Ash, KF Bieniek, TF Gendron, T Caulfield, WL Lin, ...
Neuron 77 (4), 639-646, 2013
11812013
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
TF Gendron, KF Bieniek, YJ Zhang, K Jansen-West, PEA Ash, T Caulfield, ...
Acta neuropathologica 126, 829-844, 2013
6122013
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5702018
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
M Van Blitterswijk, MA Van Es, EAM Hennekam, D Dooijes, ...
Human molecular genetics 21 (17), 3776-3784, 2012
4022012
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
M Prudencio, VV Belzil, R Batra, CA Ross, TF Gendron, LJ Pregent, ...
Nature neuroscience 18 (8), 1175-1182, 2015
3742015
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
C Pottier, KF Bieniek, NC Finch, M van de Vorst, M Baker, R Perkersen, ...
Acta neuropathologica 130, 77-92, 2015
3282015
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
M van Blitterswijk, M DeJesus-Hernandez, E Niemantsverdriet, ...
The Lancet Neurology 12 (10), 978-988, 2013
3242013
Detection of long repeat expansions from PCR-free whole-genome sequence data
E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ...
Genome research 27 (11), 1895-1903, 2017
3132017
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037-1042, 2016
2802016
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
TF Gendron, J Chew, JN Stankowski, LR Hayes, YJ Zhang, M Prudencio, ...
Science translational medicine 9 (383), eaai7866, 2017
2232017
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ...
Nature communications 7 (1), 11253, 2016
2162016
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
M Van Blitterswijk, M DeJesus-Hernandez, R Rademakers
Current opinion in neurology 25 (6), 689-700, 2012
2112012
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
MA Van Es, HJ Schelhaas, PWJ Van Vught, N Ticozzi, PM Andersen, ...
Annals of neurology 70 (6), 964-973, 2011
2112011
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
P Van Damme, JH Veldink, M van Blitterswijk, A Corveleyn, ...
Neurology 76 (24), 2066-2072, 2011
1872011
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
M Van Blitterswijk, B Mullen, AM Nicholson, KF Bieniek, MG Heckman, ...
Acta neuropathologica 127, 397-406, 2014
1572014
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
M Koppers, MM van Blitterswijk, L Vlam, PA Rowicka, PWJ van Vught, ...
Neurobiology of aging 33 (4), 837. e7-837. e13, 2012
1462012
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
C Akimoto, AE Volk, M van Blitterswijk, M Van den Broeck, CS Leblond, ...
Journal of medical genetics 51 (6), 419-424, 2014
1402014
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
NJ Kramer, Y Carlomagno, YJ Zhang, S Almeida, CN Cook, TF Gendron, ...
Science 353 (6300), 708-712, 2016
1322016
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
W Van Rheenen, M Van Blitterswijk, MHB Huisman, L Vlam, ...
Neurology 79 (9), 878-882, 2012
1322012
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
M van Blitterswijk, TF Gendron, MC Baker, M DeJesus-Hernandez, ...
Acta neuropathologica 130, 863-876, 2015
1292015
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