Michael C. Kruer
University of Arizona(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cerebral Palsy and Movement Disorders, Neurological diseases and metabolism, Neurological disorders and treatments
Most-Cited Works
- → Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies(2014)609 cited
- → Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA(2012)358 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society(2017)286 cited
- → Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation(2013)246 cited
- → Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)(2010)231 cited
- → Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies(2015)222 cited
- → Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation(2011)215 cited
- → The genetic basis of cerebral palsy(2017)203 cited
- → New NBIA subtype(2012)179 cited