Harvard Catalyst Profiles

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Aloysius Romero Domingo, M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Steinhardt J, Hanssen H, Heldmann M, Sprenger A, Laabs BH, Domingo A, Reyes CJ, Prasuhn J, Brand M, Rosales R, Münte TF, Klein C, Westenberger A, Oropilla JQ, Diesta C, Brüggemann N. Prodromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype. Mov Disord. 2022 07; 37(7):1474-1482. PMID: 35491955.
    Citations:    Fields:    Translation:Humans
  2. Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. Am J Hum Genet. 2021 11 04; 108(11):2145-2158. PMID: 34672987; PMCID: PMC8595948.
    Citations:    Fields:    Translation:HumansAnimalsCells
  3. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Mov Disord. 2021 11; 36(11):2468-2480. PMID: 34432325.
    Citations: 6     Fields:    Translation:Humans
  4. Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobricic V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun. 2021 05 28; 12(1):3216. PMID: 34050153.
    Citations: 4     Fields:    Translation:HumansCells
  5. Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021 05; 36(5):1086-1103. PMID: 33502045.
    Citations: 9     Fields:    Translation:Humans
  6. Domingo A, Yadav R, Ozelius LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). 2021 04; 128(4):405-416. PMID: 33247415.
    Citations: 6     Fields:    Translation:Humans
  7. Weissbach A, Saranza G, Domingo A. Combined dystonias: clinical and genetic updates. J Neural Transm (Vienna). 2021 04; 128(4):417-429. PMID: 33099685.
    Citations: 1     Fields:    Translation:Humans
  8. Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Mov Disord. 2020 11; 35(11):1933-1938. PMID: 32949450.
    Citations: 10     Fields:    Translation:Humans
  9. Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N. Imaging gradual neurodegeneration in a basal ganglia model disease. Ann Neurol. 2019 10; 86(4):517-526. PMID: 31376168.
    Citations: 7     Fields:    Translation:Humans
  10. Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol. 2019 06; 85(6):812-822. PMID: 30973967.
    Citations: 25     Fields:    Translation:HumansCells
  11. Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol. 2019 02 01; 76(2):211-216. PMID: 30508028; PMCID: PMC6439955.
    Citations: 11     Fields:    Translation:Humans
  12. Sprenger A, Hanssen H, Hagedorn I, Prasuhn J, Rosales RL, Jamora RDG, Diesta CC, Domingo A, Klein C, Brüggemann N, Helmchen C. Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. Parkinsonism Relat Disord. 2019 04; 61:170-178. PMID: 30352750.
    Citations: 1     Fields:    Translation:Humans
  13. Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain. 2018 10 01; 141(10):2995-3008. PMID: 30169601.
    Citations: 16     Fields:    Translation:Humans
  14. Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord. 2018 07; 33(7):1108-1118. PMID: 30153385.
    Citations: 10     Fields:    Translation:HumansCells
  15. Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. Cereb Cortex. 2018 07 01; 28(7):2243-2252. PMID: 28505262.
    Citations: 15     Fields:    Translation:Humans
  16. Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord. 2018 05; 33(5):730-741. PMID: 29644727.
    Citations: 70     Fields:    Translation:HumansAnimals
  17. Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21. PMID: 29474918; PMCID: PMC5831509.
    Citations: 65     Fields:    Translation:HumansCells
  18. Domingo A, Klein C. Genetics of Parkinson disease. Handb Clin Neurol. 2018; 147:211-227. PMID: 29325612.
    Citations: 38     Fields:    Translation:Humans
  19. Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin. 2018; 17:835-846. PMID: 29527488.
    Citations: 9     Fields:    Translation:Humans
  20. Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug; 41:118-120. PMID: 28655586; PMCID: PMC5769152.
    Citations: 3     Fields:    Translation:Humans
  21. Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding. Brain Struct Funct. 2017 Nov; 222(8):3807-3817. PMID: 28466359.
    Citations: 5     Fields:    Translation:Humans
  22. Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord. 2017 04; 37:43-49. PMID: 28094105.
    Citations: 4     Fields:    Translation:Humans
  23. Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. Mov Disord. 2017 04; 32(4):576-584. PMID: 28059473.
    Citations: 15     Fields:    Translation:Humans
  24. Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. J Pediatr. 2017 02; 181:306-308.e1. PMID: 27931826.
    Citations: 9     Fields:    Translation:Humans
  25. Miškovic ND, Domingo A, Dobricic V, Max C, Braenne I, Petrovic I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostic VS, Westenberger A. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mov Disord. 2016 12; 31(12):1929-1931. PMID: 27787937.
    Citations: 6     Fields:    Translation:Humans
  26. Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord. 2016 12; 31(12):1901-1904. PMID: 27671522.
    Citations: 3     Fields:    Translation:Humans
  27. Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet. 2016 Oct; 2(5):e106. PMID: 27668284; PMCID: PMC5022844.
    Citations: 11     
  28. Brüggemann N, Heldmann M, Klein C, Domingo A, Rasche D, Tronnier V, Rosales RL, Jamora RD, Lee LV, Münte TF. Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. Parkinsonism Relat Disord. 2016 10; 31:91-97. PMID: 27481033.
    Citations: 14     Fields:    Translation:Humans
  29. Domingo A, Erro R, Lohmann K. Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. Mov Disord. 2016 Apr; 31(4):471-7. PMID: 26991507.
    Citations: 23     Fields:    Translation:Humans
  30. Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci. 2016 08; 73(16):3205-15. PMID: 26879577.
    Citations: 14     Fields:    Translation:HumansCells
  31. Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat Disord. 2016 Feb; 23:116-7. PMID: 26739247.
    Citations: 2     Fields:    Translation:Humans
  32. Penamora-Destriza JM, Domingo A, Schmidt TGPM, Westenberger A, Klein C, Rosales R. First Report of a Filipino with Mohr-Tranebjaerg Syndrome. Mov Disord Clin Pract. 2015 Dec; 2(4):417-419. PMID: 30363500; PMCID: PMC6178691.
    Citations: 1     
  33. Weissbach A, Bäumer T, Rosales R, Lee LV, Brüggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Münchau A. Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. Mov Disord. 2015 May; 30(6):873-5. PMID: 25914216.
    Citations: 2     Fields:    Translation:Humans
  34. Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol. 2015 Apr; 72(4):460-7. PMID: 25686319.
    Citations: 23     Fields:    Translation:Humans
  35. Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet. 2015 Oct; 23(10):1334-40. PMID: 25604858; PMCID: PMC4592086.
    Citations: 26     Fields:    Translation:HumansCells
  36. Domingo A, Schmidt TG, Barcelon E, Lukban M, Westenberger A, Klein C. X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. J Neurol. 2014 Nov; 261(11):2225-7. PMID: 25270678.
    Citations: 2     Fields:    Translation:Humans
  37. Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol. 2014 Sep; 71(9):1177-80. PMID: 25004170.
    Citations: 7     Fields:    Translation:Humans
  38. Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol. 2014 Apr; 71(4):490-4. PMID: 24535567; PMCID: PMC4237020.
    Citations: 27     Fields:    Translation:HumansCells
  39. Jamora RD, Ledesma LK, Domingo A, Cenina AR, Lee LV. Nonmotor features in sex-linked dystonia parkinsonism. Neurodegener Dis Manag. 2014; 4(3):283-9. PMID: 25095822.
    Citations: 11     Fields:    Translation:Humans
  40. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep; 45(9):1077-82. PMID: 23913003.
    Citations: 123     Fields:    Translation:HumansAnimals
  41. Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord. 2013 May; 28(5):675-8. PMID: 23389859.
    Citations: 8     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.