Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
7U54NS065712-04
Application #
8478287
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2012-01-02
Budget End
2012-08-31
Support Year
4
Fiscal Year
2011
Total Cost
$79,688
Indirect Cost
Name
University of Iowa
Department
Type
DUNS #
062761671
City
Iowa City
State
IA
Country
United States
Zip Code
52242
Horga, Alejandro; Laurà, Matilde; Jaunmuktane, Zane et al. (2017) Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 88:575-585
Tomaselli, Pedro J; Rossor, Alexander M; Horga, Alejandro et al. (2017) A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. J Peripher Nerv Syst 22:460-463
Bis, Dana M; Schüle, Rebecca; Reichbauer, Jennifer et al. (2017) Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med 5:280-286
Tomaselli, Pedro J; Rossor, Alexander M; Horga, Alejandro et al. (2017) Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology 88:1445-1453
Shy, Michael; Rebelo, Adriana P; Feely, Shawna Me et al. (2017) Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry :
Panosyan, Francis B; Kirk, Callyn A; Marking, Devon et al. (2017) Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve :
Ramdharry, Gita M; Pollard, Alexander J; Grant, Robert et al. (2017) A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. Disabil Rehabil 39:1753-1758
Rossor, Alexander M; Morrow, Jasper M; Polke, James M et al. (2017) Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Neuromuscul Disord 27:50-56
Liao, Chunyan; Ashley, Neil; Diot, Alan et al. (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88:131-142
Manganelli, Fiore; Parisi, Silvia; Nolano, Maria et al. (2017) Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology 88:2132-2140

Showing the most recent 10 out of 168 publications