Alexander Fay • UCSF Profiles (original) (raw)
- Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating Scale. Dev Med Child Neurol. 2025 Sep 19. Girardi A, Abetz-Webb L, Rudell K, Atwal PS, Fay A. PMID: 40974106.
View in: PubMed Mentions: Fields: - Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants. Brain. 2025 Feb 03; 148(2):564-579. Berth SH, Vo L, Kwon DH, Grider T, Damayanti YS, Kosmanopoulos G, Fox A, Lau AR, Carr P, Donohue JK, Hoke M, Thomas S, Karam C, Fay AJ, Meltzer E, Crawford TO, Gaudet R, Shy ME, Hellmich UA, Lee SY, Sumner CJ, McCray BA. PMID: 39021275; PMCID: PMC12054728.
View in: PubMed Mentions: 3 Fields:
Translation:HumansAnimalsCells - Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan; 36(1-2):45-56. Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. PMID: 39628365; PMCID: PMC11807896.
View in: PubMed Mentions: 3 Fields:
Translation:Humans - 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 - 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: 2 Fields:
Translation:Humans - 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: 72 Fields:
Translation:HumansCellsCTClinical Trials - 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 - 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 - Neuromuscular Diseases of the Newborn. Semin Pediatr Neurol. 2019 12; 32:100771. Fay AJ. PMID: 31813523.
View in: PubMed Mentions: 4 Fields:
Translation:Humans - Poor nighttime sleep is positively associated with dyskinesia in Parkinson's disease patients. Parkinsonism Relat Disord. 2018 03; 48:68-73. Mao CJ, Yang YP, Chen JP, Wang F, Chen J, Zhang JR, Zhang HJ, Zhuang S, Xiong YT, Gu CC, Yuan W, Huang JY, Fay A, Zhong CK, Liu CF. PMID: 29305084; PMCID: PMC5949046.
View in: PubMed Mentions: 14 Fields:
Translation:Humans - 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: 44 Fields:
Translation:Humans - 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: 18 Fields:
Translation:Humans - 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: 2 Fields: - 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: 75 Fields:
Translation:HumansCells - 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: 31 Fields:
Translation:HumansCells - 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 - 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 - 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: 19 Fields:
Translation:Humans - 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: 272 Fields:
Translation:HumansAnimalsCells - 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: 26 Fields:
Translation:Cells
This graph shows the number and percent of publications by field. Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications. Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written. To see the data as text, click here.
This graph shows the number and percent of publications by field. Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications. Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written. To see the data as text, click here.
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