Literature DB >> 2363444

Muscle-eye-brain disease and Walker-Warburg syndrome.

P Santavuori, H Pihko, K Sainio, M Lappi, H Somer, M Haltia, C Raitta, L Ketonen, J Leisti.   

Abstract

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Year:  1990        PMID： 2363444     DOI： 10.1002/ajmg.1320360334

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


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  12 in total

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Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  A novel pattern of oculocerebral malformation.

Authors:  B J Clark; W R Lee; D Doyle; R Arngrimsson; J L Tolmie; J B Stephenson
Journal:  Br J Ophthalmol       Date:  1997-06       Impact factor: 4.638

Review 3.  Syndromes with lissencephaly.

Authors:  D T Pilz; O W Quarrell
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

4.  Neuropathology of lissencephalies.

Authors:  K Kuchelmeister; M Bergmann; F Gullotta
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

5.  Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus.

Authors:  G Miller; R L Ladda; J Towfighi
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

6.  Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.

Authors:  Q H Leyten; K Renkawek; W O Renier; F J Gabreëls; C M Mooy; H J ter Laak; R A Mullaart
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

7.  Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies.

Authors:  Q H Leyten; H J ter Laak; F J Gabreëls; W O Renier; K Renkawek; R C Sengers
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

8.  Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Authors:  A M Laverda; M A Battaglia; P Drigo; P A Battistella; G L Casara; A Suppiej; R Casellato
Journal:  Childs Nerv Syst       Date:  1993-04       Impact factor: 1.475

9.  Ocular findings in cerebro-ocular-myopathy syndrome (COMS). A possible role of growth factors?

Authors:  D G Sanders; C M Mooy
Journal:  Int Ophthalmol       Date:  1993-08       Impact factor: 2.031

10.  Neurosurgical management of Walker-Warburg syndrome.

Authors:  J F Martínez-Lage; J M García Santos; M Poza; A Puche; C Casas; T Rodriguez Costa
Journal:  Childs Nerv Syst       Date:  1995-03       Impact factor: 1.475
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