Aloysius Romero Domingo, M.D.
This page shows the publications Aloysius Domingo has written about Mutation.
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.
Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). 2021 04; 128(4):405-416.
Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug; 41:118-120.
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mov Disord. 2016 12; 31(12):1929-1931.
RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat Disord. 2016 Feb; 23:116-7.
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol. 2015 Apr; 72(4):460-7.
Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol. 2014 Apr; 71(4):490-4.
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep; 45(9):1077-82.
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Mov Disord. 2021 11; 36(11):2468-2480.
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021 05; 36(5):1086-1103.
Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord. 2017 04; 37:43-49.
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.
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.