Literature DB >> 7195649

Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome?

P K Jensen.   

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Year:  1981        PMID： 7195649     DOI： 10.1002/ajmg.1320090110

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Authors:  R M Plenge; L Tranebjaerg; P K Jensen; C Schwartz; H F Willard
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

2.  Calcification of the central nervous system in a new hereditary neurological syndrome.

Authors:  E Reske-Nielsen; P K Jensen; O Hein-Sørensen; K Abelskov
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

3.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

4.  Lafora's disease and brain calcifications.

Authors:  S Oster; E Reske-Nielsen; I Bruun
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088
  4 in total

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