Alexander Fay, MD, PhD
Associate Professor
Neurology
School of Medicine

Publications (16)

Top publication keywords:
Herpesvirus 7, HumanNeurodegenerative DiseasesMuscular Atrophy, SpinalBrain StemRoseolovirus InfectionsBevacizumabCentral Nervous System CystsRNA, TransferIntracranial HemorrhagesCharcot-Marie-Tooth DiseaseAndersen SyndromeEncephalitis, ViralNeuromuscular DiseasesGenetic TherapyLeukoencephalopathies

• Andersen-Tawil syndrome.
  Handbook of clinical neurology 2024 Goslinga JA, PtáCek LJ, Tawil R, Fay A
• Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
  Pediatric clinics of North America 2023 Fay A
• Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
  Nature communications 2021 Pearson TS, Gupta N, San Sebastian W, Imamura-Ching J, Viehoever A, Grijalvo-Perez A, Fay AJ, Seth N, Lundy SM, Seo Y, Pampaloni M, Hyland K, Smith E, de Oliveira Barbosa G, Heathcock JC, Minnema A, …
• A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
  Annals of neurology 2020 Fay A, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptácek LJ
• Targeted Treatments for Inherited Neuromuscular Diseases of Childhood.
  Seminars in neurology 2020 Fay AJ, Knox R, Neil EE, Strober J

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• Neuromuscular Diseases of the Newborn.
  Seminars in pediatric neurology 2019 Fay AJ
• Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
  Neuropediatrics 2017 Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey…
• Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.
  Pediatric neurology 2017 Fay AJ, King AA, Shimony JS, Crow YJ, Brunstrom-Hernandez JE
• Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  Nature genetics 2017 Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat…
• Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  Nature genetics 2016 Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat…
• ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
  Human mutation 2016 Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, …
• HIV-Related Cognitive Impairment of Orphans in Myanmar With Vertically Transmitted HIV Taking Antiretroviral Therapy.
  Pediatric neurology 2015 Linn K, Fay A, Meddles K, Isbell S, Lin PN, Thair C, Heaps J, Paul R, Mar SS
• Pediatric Hemorrhagic Brainstem Encephalitis Associated With HHV-7 Infection.
  Pediatric neurology 2015 Fay AJ, Noetzel MJ, Mar SS
• Relapse severity and recovery in early pediatric multiple sclerosis.
  Multiple sclerosis (Houndmills, Basingstoke, England) 2011 Fay AJ, Mowry EM, Strober J, Waubant E
• Microtubule plus-end-tracking proteins target gap junctions directly from the cell interior to adherens junctions.
  Cell 2007 Shaw RM, Fay AJ, Puthenveedu MA, von Zastrow M, Jan YN, Jan LY
• SK channels mediate NADPH oxidase-independent reactive oxygen species production and apoptosis in granulocytes.
  Proceedings of the National Academy of Sciences of the United States of America 2006 Fay AJ, Qian X, Jan YN, Jan LY