Dr. Michael Kruer, MD

• Pediatric Neurology

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• Phoenix Childrens Hospital

  Internship Hospital

• Oregon Health & Science University

  Fellowship Hospital, 2011

• Phoenix Childrens Hospital/maricopa Medical Center

  Residency Hospital, 2007

• University Of Arizona College Of Medicine – Phoenix

  Medical School, 2005

• AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders, 2023-09-26

• Variants in mitochondrial ATP synthase cause variable neurologic phenotypes, 2022-01-20

• The phenotypic spectrum ofPCDH12associated disorders - five new cases and review of the literature, 2021-10-30

• De Novo VPS4AMutations Cause Multisystem Disease with Abnormal Neurodevelopment, 2020-11-12

• Biallelic loss-of-function variants in the splicing regulatorNSRP1cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy, 2021-08-12

• Deep Brain Stimulation for Pediatric Dystonia: A review of the literature and suggested programming algorithm, 2022-09-02

• Loss ofFrrs1ldisrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities, 2019-02-22

• Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease, 2015-06-17

• Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant KEROS S. ET AL., 2021-12-21

• Bi-allelic variants inRNF170are associated with hereditary spastic paraplegia, 2019-10-21

• Is Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease, 2022-04-14

• Genetic and phenotypic characterization ofNKX6-2-related spastic ataxia and hypomyelination, 2019-10-17

• ALG13X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes, 2021-03-26

• CNS Langerhans Cell Histiocytosis: Common Hematopoietic Origin for LCH-Associated Neurodegeneration and Mass Lesions, 2018-04-06

• Damagingde novomissense variants inEEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy, 2020-04-06

• SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice, 2022-07-15

• Dystonia inATP2B3-associated X-linked Spinocerebellar Ataxia, 2016-09-22

• Mutations disrupting neuritogenesis genes confer risk for cerebral palsy, 2020-09-28

• Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation, 2023-08-03

• Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration, 2019-07-12

• DefectiveFA2HLeads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA), 2018-04-18

• Biallelic variants in the ectonucleotidaseENTPD1cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia, 2022-05-28

• Analysis ofATP13A2in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts, 2012-06-25

• Insights From Genetic Studies of Cerebral Palsy, 2021-01-21