ADMINISTRATIVE UNIT The Administrative Unit is responsible for coordinating and supporting all activities of the CREATE Consortium, to enable this RDCRC to achieve its scientific, educational and community engagement goals. The Administrative Unit will build on the existing infrastructure of five clinical centers of excellence for the diagnosis and treatment of patients with ALS and related disorders (Miami, Mayo, Kansas, UCSF and UCSD), the resources available through Clinical Translational Science Awards (CTSAs) at each of these institutions, the expertise and considerable genomic and bioinformatics expertise of our members (Miami, St. Jude, Mayo), our long history of collaboration with a diverse array of relevant patient advocacy groups (PAGs), and our engaged commitment to patient education, outreach and advocacy. We have also established new partnerships with the National ALS Registry (USA), the Ontario Neurodegenerative Research Initiative (Canada) and the STRENGTH Consortium (Europe) to form an international alliance with the collective resources to meaningfully impact ALS and related disorder research.
| Nicolas, Aude (see original citation for additional authors) (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron 97:1268-1283.e6 |
| Wilke, Carlo; Rattay, Tim W; Hengel, Holger et al. (2018) Serum neurofilament light chain is increased in hereditary spastic paraplegias. Ann Clin Transl Neurol 5:876-882 |
| Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina et al. (2018) Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet 102:505-514 |
| Chen, Jacqueline; Kostenko, Volodymyr; Pioro, Erik P et al. (2018) MR Imaging-based Estimation of Upper Motor Neuron Density in Patients with Amyotrophic Lateral Sclerosis: A Feasibility Study. Radiology 287:955-964 |
| Pottier, Cyril; Rampersaud, Evadnie; Baker, Matt et al. (2018) Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotroph Lateral Scler Frontotemporal Degener 19:469-471 |
| Prudencio, Mercedes; Gonzales, Patrick K; Cook, Casey N et al. (2017) Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Hum Mol Genet 26:3421-3431 |
| Jacquier, Arnaud; Delorme, Cécile; Belotti, Edwige et al. (2017) Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathol Commun 5:55 |
| Finch, NiCole A; Wang, Xue; Baker, Matthew C et al. (2017) Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurol Genet 3:e161 |
| DeJesus-Hernandez, Mariely; Finch, NiCole A; Wang, Xue et al. (2017) In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol 134:255-269 |
| Gendron, Tania F; Chew, Jeannie; Stankowski, Jeannette N et al. (2017) Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med 9: |
Showing the most recent 10 out of 23 publications
