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Aloysius Domingo
Aloysius Domingo
Instructor
Verified email at mgh.harvard.edu
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Cited by
Year
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ...
Nature genetics 45 (9), 1077-1082, 2013
3092013
Genotype‐Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review
M Kasten, C Hartmann, J Hampf, S Schaake, A Westenberger, ...
Movement Disorders 33 (5), 730-741, 2018
2602018
Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly
T Aneichyk, WT Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ...
Cell 172 (5), 897-909. e21, 2018
2012018
Genetics of Parkinson disease
A Domingo, C Klein
Handbook of clinical neurology 147, 211-227, 2018
1262018
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization
V Tadic, A Westenberger, A Domingo, D Alvarez-Fischer, C Klein, ...
JAMA neurology 72 (4), 460-467, 2015
912015
Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review
LM Lange, J Junker, S Loens, H Baumann, L Olschewski, S Schaake, ...
Movement Disorders 36 (5), 1086-1103, 2021
882021
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
A Domingo, A Westenberger, LV Lee, I Brænne, T Liu, I Vater, R Rosales, ...
European Journal of Human Genetics 23 (10), 1334-1340, 2015
832015
Mutations in GNAL: a novel cause of craniocervical dystonia
KR Kumar, K Lohmann, I Masuho, R Miyamoto, A Ferbert, T Lohnau, ...
JAMA neurology 71 (4), 490-494, 2014
832014
A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
A Westenberger, CJ Reyes, G Saranza, V Dobricic, H Hanssen, ...
Annals of Neurology 85 (6), 812-822, 2019
782019
Novel dystonia genes: clues on disease mechanisms and the complexities of high‐throughput sequencing
A Domingo, R Erro, K Lohmann
Movement Disorders 31 (4), 471-477, 2016
692016
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism
H Hanssen, M Heldmann, J Prasuhn, V Tronnier, D Rasche, CC Diesta, ...
Brain 141 (10), 2995-3008, 2018
432018
Association of pallidal neurostimulation and outcome predictors with X-linked dystonia parkinsonism
N Brüggemann, A Domingo, D Rasche, CKE Moll, RL Rosales, ...
JAMA neurology 76 (2), 211-216, 2019
422019
Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism
N Brüggemann, M Heldmann, C Klein, A Domingo, D Rasche, V Tronnier, ...
Parkinsonism & Related Disorders 31, 91-97, 2016
422016
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
S Steinrücke, K Lohmann, A Domingo, A Rolfs, T Bäumer, J Spiegler, ...
Neurology: Genetics 2 (5), e106, 2016
422016
Striosomal dysfunction affects behavioral adaptation but not impulsivity—Evidence from X‐linked dystonia‐parkinsonism
C Beste, M Mückschel, R Rosales, A Domingo, L Lee, A Ng, C Klein, ...
Movement Disorders 32 (4), 576-584, 2017
412017
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
A Domingo, D Amar, K Grütz, LV Lee, R Rosales, N Brüggemann, ...
Cellular and Molecular Life Sciences 73, 3205-3215, 2016
402016
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X‐linked dystonia‐parkinsonism
A Rakovic, A Domingo, K Grütz, L Kulikovskaja, P Capetian, SA Cowley, ...
Movement Disorders 33 (7), 1108-1118, 2018
392018
Genotype–phenotype relations in primary familial brain calcification: systematic MDSGene review
A Balck, S Schaake, NS Kuhnke, A Domingo, H Madoev, J Margolesky, ...
Movement disorders 36 (11), 2468-2480, 2021
382021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
BH Laabs, C Klein, J Pozojevic, A Domingo, N Brüggemann, K Grütz, ...
Nature communications 12 (1), 3216, 2021
362021
The basal ganglia striosomes affect the modulation of conflicts by subliminal information—evidence from X-linked dystonia parkinsonism
C Beste, M Mückschel, R Rosales, A Domingo, L Lee, A Ng, C Klein, ...
Cerebral Cortex 28 (7), 2243-2252, 2018
322018
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