ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion release_ytu5tw4uifh6jmoifftdzbdaha

by Sali M.K. Farhan, Tania F. Gendron, Leonard Petrucelli, Robert A. Hegele, Michael J. Strong

References

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Showing 1 - 7 of 7 references (in 131ms)
[1]

via fatcat-pubmed
Genetic and epigenetic study of ALS-discordant identical twins with double mutations inSOD1andARHGEF28
Ming Zhang, Zhengrui Xi, Mahdi Ghani, Peixin Jia, Mrinal Pal, Karolina Werynska, Danielle Moreno, Christine Sato (+ more)
2016   Journal of Neurology, Neurosurgery and Psychiatry
doi:10.1136/jnnp-2016-313592  pmid:27154192 
[2]

via fatcat-pubmed
Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism
Brian A. Keller, Kathryn Volkening, Cristian A. Droppelmann, Lee Cyn Ang, Rosa Rademakers, Michael J. Strong
2012   Acta Neuropathologica
doi:10.1007/s00401-012-1035-z  pmid:22941224 
[3]

via fatcat-pubmed
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez, Ian R. Mackenzie, Bradley F. Boeve, Adam L. Boxer, Matt Baker, Nicola J. Rutherford, Alexandra M. Nicholson, NiCole A. Finch (+ more)
2011   Neuron
doi:10.1016/j.neuron.2011.09.011  pmcid:PMC3202986  pmid:21944778 
web.archive.org [PDF]
[4]

via fatcat-pubmed
El escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
Benjamin Rix Brooks
1994   Journal of the Neurological Sciences
doi:10.1016/0022-510x(94)90191-0  pmid:7807156 
[5]

via fatcat-pubmed
Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis
Cristian A. Droppelmann, Jian Wang, Danae Campos-Melo, Brian Keller, Kathryn Volkening, Robert A. Hegele, Michael J. Strong
2013   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
doi:10.3109/21678421.2012.758288  pmid:23286752 
[6]

via fatcat-pubmed
ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort
Yan Ma, Lu Tang, Lu Chen, Bin Zhang, Pan Deng, Jingran Wang, Yi Yang, Rong Liu (+ more)
2014   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
doi:10.3109/21678421.2014.896926  pmid:24712971 
[b6]

via grobid
Keller BA, Volkening K, Droppelmann CA, Ang LC, Rademakers R, Strong MJ. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a com- mon pathogenic mechanism. Acta Neuropathol 2012;124: 733-747.