Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Top Authors
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Dalian Medical University
Dalian, China
Northeastern University
Shenyang, China
Paracelsus Medical University
Salzburg, Austria
Hôpital Necker-Enfants Malades
Paris, France
Karolinska University Hospital
Stockholm, Sweden
Universitair Ziekenhuis Brussel
Brussels, Belgium
Great Ormond Street Hospital
London, United Kingdom
University of Toronto
Toronto, Canada
University of California, San Francisco
San Francisco, United States
References
References (22)
- 1
Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.
Dulski J, Schinwelski M, Mandat T, et al.
Stereotactic and functional neurosurgery 2016; (94(2)):123-5 doi:10.1159/000445078.
PMID: 27100856 - 2
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
Albanyan S, Al Teneiji A, Monfared N, Mercimek-Mahmutoglu S
American journal of medical genetics. Part A 2017; (173(6)):1640-1643 doi:10.1002/ajmg.a.38127.
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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, et al.
Annals of neurology 2017; (82(6)):1004-1015 doi:10.1002/ana.25110.
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Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants.
Coenen VA, Rijntjes M, Sajonz B, et al.
Journal of neurological surgery. Part A, Central European neurosurgery 2019; (80(1)):44-48 doi:10.1055/s-0038-1669472.
PMID: 30290379 - 5
B-Cell Receptor-Associated Protein 31 Regulates the Expression of Valosin-Containing Protein Through Elf2.
Jia CC, Du J, Liu X, et al.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018; (51(4)):1799-1814 doi:10.1159/000495682.
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Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
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BCAP31-related syndrome: The first de novo report.
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European journal of medical genetics 2020; (63(2)):103732 doi:10.1016/j.ejmg.2019.103732.
PMID: 31330203 - 8
BAP31 regulates IRAK1-dependent neuroinflammation in microglia.
Liu X, Jiao K, Jia CC, et al.
Journal of neuroinflammation 2019; (16(1)):281 doi:10.1186/s12974-019-1661-7.
PMID: 31883536 - 9
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
Shimizu K, Oba D, Nambu R, et al.
Molecular genetics & genomic medicine 2020; (8(3)):e1129 doi:10.1002/mgg3.1129.
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De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.
Kao HJ, Chiang HL, Chen HH, et al.
Human mutation 2020; (41(10)):1775-1782 doi:10.1002/humu.24080.
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Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
Chaudhry D, Chaudhry A, Muzaffar J, et al.
The journal of international advanced otology 2020; (16(3)):411-431 doi:10.5152/iao.2020.9035.
PMID: 33136025 - 12
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S, Shaw M, Mignot C, et al.
European journal of human genetics : EJHG 2021; (29(9)):1405-1417 doi:10.1038/s41431-021-00821-0.
PMID: 33603160 - 13
BAP31: Physiological functions and roles in disease.
Quistgaard EM
Biochimie 2021; (186()):105-129 doi:10.1016/j.biochi.2021.04.008.
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B-cell receptor-associated protein 31 promotes migration and invasion in ovarian cancer cells.
Liang H, Dong J, Cheng Z, et al.
Experimental and therapeutic medicine 2021; (22(2)):858 doi:10.3892/etm.2021.10290.
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Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
Yuen L, Sahai I, O'Grady L, et al.
American journal of medical genetics. Part A 2022; (188(9)):2760-2765 doi:10.1002/ajmg.a.62886.
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Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Sousa E, Abreu M, Tkachenko N, et al.
Frontiers in neurology 2023; (14()):1161940 doi:10.3389/fneur.2023.1161940.
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Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.
Heath O, Pandithan D, Pitt J, et al.
JIMD reports 2023; (64(5)):337-345 doi:10.1002/jmd2.12390.
PMID: 37701323 - 18
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.
Huggins E, Jackson DG, Young SP, Kishnani PS
Molecular genetics and metabolism reports 2024; (40()):101117 doi:10.1016/j.ymgmr.2024.101117.
PMID: 39101156 - 19
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Paucar M, Li T, Bergendal Å, et al.
Movement disorders : official journal of the Movement Disorder Society 2025; (40(4)):672-682 doi:10.1002/mds.30116.
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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
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Integrating genetic counseling in endocrine practice: Prevention, reproductive care, and prenatal diagnosis.
Girerd B, Peduto C, Rothenbuhler A, et al.
Annales d'endocrinologie 2026; (87(3)):102518 doi:10.1016/j.ando.2026.102518.
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Expanding the Spectrum of BCAP31-Associated Diseases: Early-Onset Parkinson Disease.
Ishiguro M, Funayama M, Park DH, et al.
Neurology. Genetics 2026; (12(4)):e200404 doi:10.1212/NXG.0000000000200404.
PMID: 42312245