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Volumn 62, Issue 6, 2004, Pages 1021-1022

Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene

Author keywords

[No Author keywords available]

Indexed keywords

BOTULINUM TOXIN; DNA; IMMUNOGLOBULIN;

EID: 1842457707     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000115174.96423.A8     Document Type: Article
Times cited : (14)

References (7)
  • 1
    • 0028935319 scopus 로고
    • A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
    • Tranebjaerg L, Schwartz C, Eriksen H, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995;32:257-263.
    • (1995) J Med Genet , vol.32 , pp. 257-263
    • Tranebjaerg, L.1    Schwartz, C.2    Eriksen, H.3
  • 2
    • 16044366597 scopus 로고    scopus 로고
    • A novel X-linked gene, DDP1, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
    • Jin H, May M, Tranebjaerg L, et al. A novel X-linked gene, DDP1, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996;14:177-180.
    • (1996) Nat Genet , vol.14 , pp. 177-180
    • Jin, H.1    May, M.2    Tranebjaerg, L.3
  • 3
    • 0016910645 scopus 로고
    • Familial syndrome with dystonia, neural deafness and possible intellectual impairment: Clinical course and pathological findings
    • Scribanu N, Kennedy C. Familial syndrome with dystonia, neural deafness and possible intellectual impairment: clinical course and pathological findings. Adv Neurol 1976;14:235-243.
    • (1976) Adv Neurol , vol.14 , pp. 235-243
    • Scribanu, N.1    Kennedy, C.2
  • 4
    • 0034795004 scopus 로고    scopus 로고
    • A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
    • Swerdlow RH, Wooten GF. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol 2001;50:537-540.
    • (2001) Ann Neurol , vol.50 , pp. 537-540
    • Swerdlow, R.H.1    Wooten, G.F.2
  • 5
    • 0032911903 scopus 로고    scopus 로고
    • Unusual mutations in Btk: An insertion, a duplication, an inversion and four large deletions
    • Rohrer J, Minegishi Y, Richter D, Eguiguren J, Conley ME. Unusual mutations in Btk: an insertion, a duplication, an inversion and four large deletions. Clin Immunol 1999;90:28-37.
    • (1999) Clin Immunol , vol.90 , pp. 28-37
    • Rohrer, J.1    Minegishi, Y.2    Richter, D.3    Eguiguren, J.4    Conley, M.E.5
  • 6
    • 0035048622 scopus 로고    scopus 로고
    • A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness
    • Richter D, Conley ME, Rohrer J, et al. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol 2001;12:107-111.
    • (2001) Pediatr Allergy Immunol , vol.12 , pp. 107-111
    • Richter, D.1    Conley, M.E.2    Rohrer, J.3
  • 7
    • 0042767609 scopus 로고    scopus 로고
    • Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP-1) gene
    • Binder J, Hofmann S, Kreisel S, et al. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP-1) gene. Brain 2003;126:1814-1820.
    • (2003) Brain , vol.126 , pp. 1814-1820
    • Binder, J.1    Hofmann, S.2    Kreisel, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.