Literature DB >> 15037679

Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics.

Michael J Noetzel.   

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Year:  2004        PMID： 15037679     DOI： 10.1212/wnl.62.6.847

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Authors:  Jung Mu Lee; Ae Suk Kim; Sun Ju Lee; Sung Min Cho; Dong Seok Lee; Sung Min Choi; Doo Kwun Kim; Chang Seok Ki; Jong Won Kim
Journal:  J Korean Med Sci       Date:  2006-10       Impact factor: 2.153

2.  Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

Authors:  Elisabetta Gazzerro; Simona Baldassari; Caterina Giacomini; Veronica Musante; Floriana Fruscione; Veronica La Padula; Roberta Biancheri; Sonia Scarfì; Valeria Prada; Federica Sotgia; Ian D Duncan; Federico Zara; Hauke B Werner; Michael P Lisanti; Lucilla Nobbio; Anna Corradi; Carlo Minetti
Journal:  PLoS One       Date:  2012-03-26       Impact factor: 3.240
  2 in total

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