Michael C. Kruer

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe et al. · Autophagy · 2016 · 5.9K citations · Full text

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

Mar Petit‐Pedrol, Thaís Armangué, Xiaoyu Peng et al. · The Lancet Neurology · 2014 · 606 citations · Full text

Neurobiology Of Disease, Medicine, Case Series +8

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 246 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Brain Iron Accumulation +19