ADMINISTRATIVE CORE The Administrative Unit is designed to ensure efficiency in the development, dissemination and application of new knowledge obtained by the Inherited Neuropathy Consortium (INC) RDCRC. The Administrative Unit is responsible for the overall administration of the INC and will oversee and coordinate interactions between the various components and projects of the INC. The Administrative Unit consists of a central RDCRC Administrative Unit, an Internal Advisory Board (IAB) and an External Advisory Board (EAB). Dr. Shy will continue to be the Director of the INC RDCRC assisted by Dr. Scherer as Administrative Director. They will lead the central RDCRC Administrative Unit. The IAB will consist of the site PIs of the INC, representatives from the five Patient Advocacy Groups (PAGs) of the INC and our Chief Biostatistician, Brian Bundy, and two other participants from the DMCC. There will be monthly calls arranged with the IAB to discuss progress and issues concerning the various projects. An IAB specific email list will be maintained by which members can freely communicate with each other. The EAB is composed of senior, internationally recognized scientists, whose function is to advise the IAB on scientific issues, including critiquing proposals generated by members of the Consortium as projects proceed and advising the IAB and central Administrative Unit RDCRC on issues that come up as the Consortium proceeds. Dr. Shy submits an Annual Report to the EAB. The EAB will also attend annual investigator meetings at the beginning and during the third year of the funding cycle to formally critique the progress and direction of the INC.
| Hu, Bo; McCollum, Megan; Ravi, Vignesh et al. (2018) Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol 83:756-770 |
| Dankwa, Lois; Richardson, Jessica; Motley, William W et al. (2018) A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst 23:36-39 |
| Bai, Yunhong; Wu, Xingyao; Brennan, Kathryn M et al. (2018) Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Ann Clin Transl Neurol 5:445-455 |
| Rebelo, Adriana P; Saade, Dimah; Pereira, Claudia V et al. (2018) SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain 141:662-672 |
| Abbott, Jamie A; Meyer-Schuman, Rebecca; Lupo, Vincenzo et al. (2018) Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat 39:415-432 |
| Abrams, Alexander J; Fontanesi, Flavia; Tan, Natalie B L et al. (2018) Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Hum Mutat 39:1995-2007 |
| Sandelius, Åsa; Zetterberg, Henrik; Blennow, Kaj et al. (2018) Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology 90:e518-e524 |
| 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 |
| Panosyan, Francis B; Kirk, Callyn A; Marking, Devon et al. (2018) Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve 57:388-394 |
| Synofzik, Matthis; Helbig, Katherine L; Harmuth, Florian et al. (2018) De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet 26:1623-1634 |
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