MichaelCKruerMD

PubMed

• 270 citations
  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, Allison Gregory, Thomas Wieland
  American Journal of Human Genetics. 2012-12-07
• 183 citations
  Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling
  Lot Snijders Blok, Erik C. Madsen, Jane Juusola, Christian Gilissen, Diana Baralle
  American Journal of Human Genetics. 2015-08-06
• 21 citations
  Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
  Gemma L. Carvill, Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether
  Human Mutation. 2020-07-01

Journal Articles

• A novel porcine model of Ataxia Telangiectasia reproduces neurological features and motor deficits of human disease  
  Beraldi R, Chan CH, Rogers CS, Kovacs AD, Meyerholz DK, Trantzas C, Lambertz AM, Darbro BW, Weber KL, White KA, Rheeden RV, Kruer MC, Dacken BA, Wang XJ, Davis BT, Roh..., Hum Mol Genet, 1/15/2015
• Mutation in GM2A leads to a progressive chorea-dementia syndrome  
  Salih MA, Seidahmed MZ, El Khashab HY, Hamad MHA, Bosley TM, Burn S, Myers A, Landsverk M, Crotwell PL, Bilguvar K, Mane S, Kruer MC, Tremor Other Hyperkinet Mov (NY), 1/9/2015
• Mutations in DDX3X are common drivers of unresolved intellectual disability with gender-specific effects on WNT signaling  
  Snijders Blok L, Madsen E, Juusola J, Gillissen C, Baralle D, Reijnders M, Venselaar H, Helsmoortel C, Hoischen A, Vissers L, Koemans T, Wissink W, Eichler EE, Romano ..., Am J Hum Genet, 1/6/2015
• Loss of AP-5 Results in Accumulation of Aberrant Endolysosomes, Defining a New Type of Lysosomal Storage Disease  
  Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Durr A, Anheim M, Gellera C, Li J, Zuchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robins..., Hum Mol Genet, 1/1/2015
• Aggressive course in encephalitis with opsoclonus, ataxia, chorea, and seizures  
  Kruer MC, Hoftberger R, Lim KY, Coryell J, Woltjer RL, Dalmau J, JAMA Neurol, 1/1/2014
• Antibodies to GABA receptor associate with seizures and status epilepticus and remove receptors from synapses  
  Petit-Pedrol M, Armangue T, Peng X, Bataller L, Celluci T, Davis R, McCracken L, Martinez-Hernandez E, Mason W, Kruer MC, Ritacco D, Grisold W, Casanova B, Balice-Gord..., Lancet Neurol, 1/1/2014
• The neuropathology of neurodegeneration with brain iron accumulation  
  Kruer MC, Int Rev Neurobiol, 1/1/2013
• Prospects for stem cell therapy in neuronal ceroid lipofuscinoses  
  Kruer MC, Pearce DA, Orchard PJ, Steiner RD, Regen Med, 1/1/2013
• New NBIA subtype: genetic, clinical, pathologic and radiographic features of MPAN  
  Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, ..., Neurology, 1/1/2013
• BPAN: a new X-linked dominant form of neurodegeneration with brain iron accumulation  
  Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden H, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M,..., Brain, 1/1/2013
• Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency  
  Kruer MC, Jepperson TN, Weimer J, Mroch A, Davis-Keppen L, Crotwell P, Parboosingh J, Mov Dis, 1/1/2013
• Mutations in gamma adducin lead to inherited cerebral palsy  
  Kruer MC, Jepperson TN, Dutta S, Steiner RD, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C..., Ann Neurol, 1/1/2013
• Neuroimaging features of Neurodegeneration with Brain Iron Accumulation (NBIA)  
  Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia K, Gregory A, Rooney WD, Hogarth P, Hayflick SJ, AJNR, 1/1/2012
• Introduction to neurodegeneration with brain iron accumulation  
  Kruer MC, Seminars in Pediatric Neurology, 1/1/2012
• Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm  
  Kruer MC, Boddaert N, Seminars in Pediatric Neurology, 1/1/2012
• Inflammatory neurological disease in patients treated with tumor necrosis factor alpha inhibitors  
  Solomon AJ, Spain RI, Kruer MC, Bourdette D, Mult Scler. J, 1/1/2011
• Pathophysiological basis of dominant and recessive GLRA1 mutations in human hyperekplexia  
  Chung SK, Vanbellinghen JF, Mullins JGL, Robinson A, Hantke J, Hammond C, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, ..., J Neurosci, 1/14/2010
• Distal 10q deletion syndrome: report of 5 cases with novel features and further genotype-phenotype correlation using array CGH  
  Yatsenko SA, Kruer MC, Bader PI, Corzo D, Li J, Pasztor L, Nowakowska B, Cai WW, Phieffer D, Gunderson K, Cheung SW, Clin Genet, 1/1/2009
• The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood  
  The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood., J Neuro-oncol, 1/1/2009
• Mild truncal ataxia, central hypotonia, and gross motor delay in a toddler with isolated rhombencephalosynapsis  
  Kruer MC, Blasco PA, Anderson JC, Bardo DME, Pinter JD, Pediatr Neurol, 1/1/2009
• SNP-based chromosomal copy number ascertainment following multiple displacement whole genome amplification  
  Corneveaux JJ, Kruer MC, Hu-Lince D, Ramsey KE, Zismann VL, Stephan DA, Craig DW, Huentelman MJ, Biotechniques, 1/1/2007
• Identification of disease-causing loci using an array-based genotyping approach on pooled DNA  
  Craig DW, Huentelman MJ, Hu-Lince D, Kruer MC, Zismann VL, Pearson J, Lee A, Stephan DA, BMC Genomics, 1/1/2005
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Books/Book Chapters

• Encyoclopedia of Neurological Sciences 
  Chapter: Subacute necrotizing encephalopathy. 
  Kruer MC and Koch TKEditors: MJ Aminoff and RD Daroff.Edition 2nd,2012
• GeneReviews (Internet) 
  Chapter: Fatty Acid Hydroxylase-Associated Neurodegeneration. 
  Kruer MC, Gregory A, Hayflick SJEditors: Pagon RA, Bird TD, Dolan CR, Stephens K.University of Washington, Seattle, Seattle, WA2011
• Pediatric Epilepsy Case Studies: From Infancy and Childhood through Adolescence 
  Chapter: Reflex epilepsy. 
  Kruer MC and Roberts CREditors: K Chapman, JM Rho.2008
• Rosenberg's Molecular & Genetic Basis of Neurological and Psychiatric Disease 
  Chapter: Pantothenate kinase associated neurodegeneration. 
  Kruer MCEditors: RN Rosenberg and JM Pascual.Edition 5th,
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Abstracts/Posters

• Mutations in the AMPA Receptor Complex Protein FRRS1L Cause an Inherited Huntington-Like Chorea-Dementia Syndrome.
  Salih MA, Madeo M, Fields L, Jepperson TN, Seidahmed M, El Khashab H, Hamad M, Kruer MC, 67th American Academy of Neurology Annual Meeting, Washington, DC, 1/18/2015
• ADD3 and KANK1: roles in dendrite morphology.
  Brudvig J, Sahir N, Cain J, Weimer JM, Kruer MC, Neuroscience 2015, Society for Neuroscience, Chicago, IL, 1/17/2015
• Mutations in adaptor protein AP-5 subunits lead to peripheral neuropathy, spastic paraplegia and parkinsonism with aberrant endolysosomes.
  Madeo M, Edgar J, Darios F, Yarrow A, Jepperson TN, Li J, Blackstone C, Robinson MS, Hirst J, Kruer MC, 64th Annual Meeting of the American Society of Human Genetics, San Diego, CA, 1/18/2014
• Mutations in AKAP1 are associated with a novel form of cystic encephalopathy.
  Madeo M, Al-Sanaa N, Kruer MC, 140th Annual Meeting of the American Neurological Association, Baltimore, MD, 1/12/2014
• Loss of Parkinson-associated PARK9 leads to failure to trigger autophagy via inadequate activation of Atg8/LC3.
  Madeo M, Yarrow A, Jepperson TN, Fields L, Padilla-Lopez S, Kruer MC, 18th International Congress of Parkinson's Disease and Movement Disorders, Stockholm, Sweden, 1/8/2014
• Characterization of a novel gene leading to an early-onset Huntington-like chorea syndrome.
  Salih MAM, Fields L, Jepperson TN, Burn S, Myers A, Crotwell PL, Kruer MC, 18th International Congress of Parkinson's Disease and Movement Disorders, Stockholm, Sweden, 1/8/2014
• ATP13A2 loss of function leads to selective impairment of autophagy.
  Kruer MC, 3rd Symposium on Ubiquitin, Protein Quality Control, and Molecular Pathogenesis, Deadwood, SD, 1/4/2014
• Role of Autoantibodies in Inherited Storage Disorders.
  Titus B, Fields L, and Kruer MC, Society for Neuroscience faculty for undergraduate neuroscience session, Midbrains Conference, Gustavus Fall Research Symposium, 1/9/2013
• Loss of PARK9 leads to defective autophagy with failure to upregulate Atg8/LC3.
  Kruer MC, Madeo M, Yarrow A, Jepperson TN, Langager D, Padilla-Lopez S, XX World Congress on Parkinson Disease and Related Disorders, Geneva, Switzerland, 1/1/2013
• Mutations in the actin-capping protein ADD3 lead to a novel hereditary form of spastic cerebral palsy.
  Kruer MC, Jepperson TN, Dutta S, Steiner RD, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Sanfield S, Woltjer RL, Mooney C, Kretzschmar D, Blasco PA, Fan G, Pol..., Child Neurology Society 41st Annual Meeting, Huntington Beach, CA, 1/1/2012
• Phenotypic characterization and autozygosity mapping of a novel locus for complicated hereditary spastic paraplegia.
  Kruer MC, Steiner RD, Merkens M, Blasco PA, Phelps R, Fan G, Houlden H, Paisan-Ruiz C, American Academy of Neurology 63rd Annual Meeting, Honolulu, HI, 1/1/2011
• Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
  Kruer MC, Paisan-Ruiz C, Boddaert N, Yoon MY, Gregory A, Polster BJ, Malandrini A, Woltjer RL, Munnich A, Gobin S, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ, American Neurological Association Annual Meeting, San Francisco, CA, 1/1/2010
• Voltage-gated potassium channel antibody negative neuromyotonia and optic neuritis associated with Hodgkin lymphoma: paraneoplastic neuromyotonia plus.
  Solomon A, Kruer MC, Bourdette DN, American Academy of Neurology 62nd Annual Meeting, Toronto, Canada, 1/1/2010
• Autoimmune TNF-alpha antagonist-associated brainstem and cerebellar encephalitis with a novel 46 kD autoantibody.
  Burbank E, Kruer MC, Kim E, Adamus G, Mass M, American Academy of Neurology 62nd Annual Meeting, Toronto, Canada, 1/1/2010
• Autopsy findings in Neurodegeneration with Brain Iron Accumulation due to PANK2 missense mutation.
  Hiken M, Kruer MC, Hayflick SJ, Woltjer RL, Grafe M, American Association of Neuropathologists 86th Annual Meeting, 1/1/2010
• Mutations in FA2H lead to Fatty Acid Hydroxylase-associated Neurodegeneration.
  Kruer MC, Child Neurology Society 39th Annual Meeting, Providence, RI, 1/1/2010
• Childhood static encephalopathy and cerebral palsy followed by abrupt-onset progressive neurodegeneration in adulthood: a novel neurodegeneration with brain iron accum...
  Kruer MC, Gregory A, Hogarth P, Hayflick SJ, American Academy of Cerebral Palsy and Developmental Medicine 63rd Annual Meeting, Scottsdale, AZ, 1/1/2009
• Acute amnesia with isolated bilateral hippocampal MRI signal abnormalities: a case series highlighting two distinct etiologies.
  Landfield A, Edgar E, Lindsay K, Kruer M, Yadav V, Bourdette D, American Academy of Neurology 61st Annual Meeting, Seattle, WA, 1/1/2009
• Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus.
  Craig DW, Itty A, Panganiban CB, Szelinger S, Kruer MC, Reiman Narayanan V, Stephan DA, Kerrigan JF, American Epilepsy Society 61st Annual Meeting, San Diego, CA, 1/1/2007
• A resident-directed, interdisciplinary medical home for underserved children with autism.
  Kruer MC, Arrington DA, Condie JM, Melmed R, Millard-Hoie J, Deering W, American Academy of Pediatrics Future of Pediatrics National Meeting, Orlando, FL, 1/1/2007
• Identification of novel autism susceptibility loci using SNP microarray-based genomic copy number analysis Platform presentation.
  Kruer MC, Huentelman MJ, Cornevieux JJ, Craig DW, Zismann VL, Hu-Lince D, Ramsey KE, Pearson JV, Stephan DA, Greater Phoenix Resident/Fellow Academic Excellence Day, Phoenix, AZ, 1/1/2007
• The value of Positron Emission Tomography (PET) and the Proliferative Index (PI) in predicting invasive low-grade astrocytomas of childhood.
  Kaplan AM, Kruer MC, Carpentieri D, Etzl MM, Bandy DJ, and Dickman PS, 35th Annual Child Neurology Society National Meeting, Pittsburg, PA, 1/1/2006
• Sudden-onset expressive aphasia in a patient with neurovasculitis.
  Kruer MC, Goldfein N, Radhakrishnan P, Regional Meeting, American College of Physicians, Phoenix, AZ, 1/1/2004
• Tension headache' with a surprising etiology: a case of neurocysticercosis.
  Kruer MC and P Radhakrishnan, Journal of General Internal Medicine, Society for General Internal Medicine National Meeting, Southwestern Regional Meeting, Society for General Internal Medicine, Chicago, IL; Santa Fe, NM, 1/1/2004
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Lectures

• Advances in CP Genetics: implications for diagnosis and treatment. 
  Texas Scottish Rite Hospital for Children, Dallas, TX - 1/1/2015
• The genetic basis of cerebral palsy: novel findings shed new light on a once well-understood disease. 
  Tucson, AZ - 1/1/2015
• What genomics is teaching us about spastic cerebral palsy. 
  Calgary, AB Canada - 1/1/2015
• The genetic basis of cerebral palsy? 
  Phoenix, AZ - 1/1/2015
• Mutations in AP5 lead to a novel lysosomal storage disorder. 
  Vermillion, SD - 1/1/2014
• When to escalate: how to define inadequate treatment response in pediatric MS. 
  Boston, MA - 1/1/2014
• Loss of PARK9 leads to selective failure of autophagy. 
  Deadwood, SD - 1/1/2014
• The genetic basis of pediatric movement disorders: what are we learning? 
  Gillette Children's Hospital, St. Paul, MN - 1/1/2014
• Neuroimmunological disorders in children: advances in diagnosis and management. 
  Gillette Children's Hospital, St. Paul, MN - 1/1/2014
• Diminished Atg8 activation in PARK9-associated disease. 
  Grand Forks, ND - 1/1/2014
• New genes & new approaches to cerebral palsy treatment. 
  Guangzhou, China - 1/1/2014
• Impaired autophagy and bioenergetic failure in a single gene model of Parkinson Disease. 
  Spearfish, SD - 1/1/2014
• Genetic insights into cerebral palsy. 
  Milwaukie, WI - 1/1/2013
• A genetic basis of cerebral palsy? 
  Chicago, IL - 1/1/2013
• Genetic contributions to cerebral palsy. 
  Chicago, IL - 1/1/2013
• Inherited forms of cerebral palsy. 
  Chicago, IL - 1/1/2013
• How genetics is changing our understanding of Parkinson Disease. 
  La Crosse, QI - 1/1/2013
• "Pediatric Movement Disorders: Show & Tell" 
  Deadwood, SD - 1/1/2012
• Pediatric neuroimmunology. 
  St. Paul, MN - 1/1/2012
• The physician-scientist. 
  University of South Dakota, Vermillion - 1/1/2012
• Actin capping protein mutations lead to inherited cerebral palsy. 
  Sanford Research, Sioux Falls - 1/1/2012
• Clinical and scientific advances in NBIA. 
  Sanford Research, Sioux Falls - 1/1/2012
• Mutations in gamma adducin lead to an inherited form of cerebral palsy. 
  University of North Dakota College of Medicine, Grand Forks, ND - 1/1/2012
• Identification of a novel cerebral palsy gene by whole exome sequencing. 
  Sanford Research, Sioux Falls - 1/1/2012
• Pediatric Neurology 101. 
  1/1/2012
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Other

• "Lysosomal Storage Disorders More Common Than Thought" (Expert commentary) 
  Kruer MC, Medscape Neurology News
  http://www.medscape.com/viewarticle/754627
  1/2/2011
• Lysosomal storage diseases. 
  Kruer MC and Steiner RD, eMedicine Neurology
  1/1/2011
• Myoclonic epilepsy in infancy and early childhood. 
  Kruer MC, eMedicine Neurology
  1/1/2011
• Update on neurodegeneration with brain iron accumulation (NBIA). 
  Kruer MC and Hayflick SJ, Movement Disorder Society website, featured article
  1/1/2010
• "In pursuit of a gene therapy for epilepsy: Ca++-calmodulin dependent kinase Iialpha (CaMKII) and glutamic acid decarboxylase (GAD67) as cell type-specific promoters u... 
  Kruer MC, University of Arizona, Department of Neurology M.D. Thesis
  Tucson, AZ - 1/1/2004
• "Effects of recombinant insulin analogs and insulin degradation products on adipocyte metabolism" 
  Kruer MC, Arizona State University, Department of Microbiology Undergraduate Honors Thesis
  Tempe, AZ - 1/1/2001
• Genetic testing in cerebral palsy. The CP Toolkit, a resource for parents and families. 
  Kruer MC
• Neurodegeneration with brain iron accumulation. 
  Kruer MC, Medlink Neurology
• ‘Neurology All-Star' 
  Kruer MC, American Academy of Neurology 63rd Annual Meeting
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