Michael C. Kruer, MD

Fahey MC, Maclennan AH, Kretzschmar D, Gecz J, Kruer MC. The genetic basis of cerebral palsy. Dev Med Child Neurol. 2017 May;59(5):462-469.Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, D rr A, Anheim M, Gellera C, Li J, Z chner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255.Kruer MC. Pediatric movement disorders. Pediatr Rev. 2015 Mar;36(3):104-15. Fahey MC1, Maclennan AH2, Kretzschmar D3, Gecz J2,4, Kruer MC5,6,7. The genetic basis of cerebral palsy. Dev Med Child Neurol. 2017 Jan;1. doi: 10.1111/dmcn.13363. PubMed PMID: 28042670.

My lab is focused on the molecular basis of movement disorders (www.kruerlab.org)Our largest project is an international collaborative study of the genetic basis of cerebral palsy (www.facebook/cpgrn)