Alexander Fay, MD, PhD

Title(s)Associate Professor, Neurology
SchoolSchool of Medicine
Address1550 Fourth Street, #001
San Francisco CA 94158
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    Other Positions
    Title(s)UCSF Weill Institute for Neurosciences


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Andersen-Tawil syndrome. Handb Clin Neurol. 2024; 203:59-67. Goslinga JA, PtáCek LJ, Tawil R, Fay A. PMID: 39174254.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease. Pediatr Clin North Am. 2023 10; 70(5):963-977. Fay A. PMID: 37704354.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun. 2021 07 12; 12(1):4251. 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, Lonser R, Elder JB, Leonard J, Larson P, Bankiewicz KS. PMID: 34253733; PMCID: PMC8275582.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCellsCTClinical Trials
    4. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Ann Neurol. 2020 10; 88(4):830-842. 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. PMID: 32715519; PMCID: PMC7781299.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    5. Targeted Treatments for Inherited Neuromuscular Diseases of Childhood. Semin Neurol. 2020 Jun; 40(3):335-341. Fay AJ, Knox R, Neil EE, Strober J. PMID: 32294764.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    6. Neuromuscular Diseases of the Newborn. Semin Pediatr Neurol. 2019 12; 32:100771. Fay AJ. PMID: 31813523.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics. 2017 Jun; 48(3):166-184. 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 MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. PMID: 28561207; PMCID: PMC5985975.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    8. Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab. Pediatr Neurol. 2017 Jun; 71:56-59. Fay AJ, King AA, Shimony JS, Crow YJ, Brunstrom-Hernandez JE. PMID: 28424147; PMCID: PMC5949049.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    9. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2017 01 31; 49(2):317. 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 AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. PMID: 28138155.
      View in: PubMed   Mentions: 1     Fields:    
    10. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016 10; 48(10):1185-92. 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 AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. PMID: 27571260; PMCID: PMC5045717.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    11. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. 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, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    12. HIV-Related Cognitive Impairment of Orphans in Myanmar With Vertically Transmitted HIV Taking Antiretroviral Therapy. Pediatr Neurol. 2015 Dec; 53(6):485-490.e1. Linn K, Fay A, Meddles K, Isbell S, Lin PN, Thair C, Heaps J, Paul R, Mar SS. PMID: 26386698.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    13. Pediatric Hemorrhagic Brainstem Encephalitis Associated With HHV-7 Infection. Pediatr Neurol. 2015 Dec; 53(6):523-6. Fay AJ, Noetzel MJ, Mar SS. PMID: 26255752.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    14. Relapse severity and recovery in early pediatric multiple sclerosis. Mult Scler. 2012 Jul; 18(7):1008-12. Fay AJ, Mowry EM, Strober J, Waubant E. PMID: 22183939.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    15. Microtubule plus-end-tracking proteins target gap junctions directly from the cell interior to adherens junctions. Cell. 2007 Feb 09; 128(3):547-60. Shaw RM, Fay AJ, Puthenveedu MA, von Zastrow M, Jan YN, Jan LY. PMID: 17289573; PMCID: PMC1955433.
      View in: PubMed   Mentions: 252     Fields:    Translation:HumansAnimalsCells
    16. SK channels mediate NADPH oxidase-independent reactive oxygen species production and apoptosis in granulocytes. Proc Natl Acad Sci U S A. 2006 Nov 14; 103(46):17548-53. Fay AJ, Qian X, Jan YN, Jan LY. PMID: 17085590; PMCID: PMC1634413.
      View in: PubMed   Mentions: 25     Fields:    Translation:Cells
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