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Journal Abstract Search

210 related items for PubMed ID: 30634948

  • 1. Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
    Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q.
    BMC Med Genet; 2019 Jan 11; 20(1):11. PubMed ID: 30634948
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  • 3. Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
    Rendtorff ND, Karstensen HG, Lodahl M, Tolmie J, McWilliam C, Bak M, Tommerup N, Nazaryan-Petersen L, Kunst H, Wong M, Joss S, Carelli V, Tranebjærg L.
    Sci Rep; 2022 Sep 02; 12(1):14959. PubMed ID: 36056138
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  • 5. Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation.
    Cif L, Gonzalez V, Garcia-Ptacek S, James S, Boetto J, Seychelles A, Roujeau T, Moura De Ribeiro AM, Sillon M, Mondain M, Coubes P.
    Mov Disord; 2013 Jun 02; 28(6):737-8. PubMed ID: 23801560
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  • 6. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
    Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS.
    Mov Disord; 2012 Jul 02; 27(8):1034-40. PubMed ID: 22736418
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  • 7. Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
    Arai T, Zhao M, Kanegane H, van Zelm MC, Futatani T, Yamada M, Ariga T, Ochs HD, Miyawaki T, Oh-ishi T.
    J Hum Genet; 2011 Aug 02; 56(8):577-82. PubMed ID: 21753765
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  • 11. A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
    Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.
    Neuromuscul Disord; 2008 Dec 02; 18(12):979-81. PubMed ID: 18952432
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  • 12. Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.
    Yeh YH, Hsieh MY, Lee WI, Huang JL, Chen LC, Yeh KW, Ou LS, Yao TC, Wu CY, Lin SJ.
    Front Immunol; 2020 Dec 02; 11():2001. PubMed ID: 33013854
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  • 15. Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.
    Dulski J, Schinwelski M, Mandat T, Pienczk-Ręcławowicz K, Sławek J.
    Stereotact Funct Neurosurg; 2016 Dec 02; 94(2):123-5. PubMed ID: 27100856
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  • 16. Otopathology in Mohr-Tranebjaerg syndrome.
    Bahmad F, Merchant SN, Nadol JB, Tranebjaerg L.
    Laryngoscope; 2007 Jul 02; 117(7):1202-8. PubMed ID: 17471106
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  • 17.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Tranebjærg L.
    ; 1993 Jul 02. PubMed ID: 20301395
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  • 19. Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
    Sousa E, Abreu M, Tkachenko N, Rocha J, Falcão Reis C.
    Front Neurol; 2023 Jul 02; 14():1161940. PubMed ID: 37325222
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  • 20. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
    Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F.
    Am J Med Genet A; 2006 Feb 15; 140(4):392-7. PubMed ID: 16411215
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