New molecular findings in congenital myopathies due to selenoprotein N gene mutations-Reference-Cited by-同舟云学术

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

Published:2011-01 Issue:1-2 Volume:300 Page:107-113
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Cagliani R.,Fruguglietti M.E.,Berardinelli A.,D'Angelo M.G.,Prelle A.,Riva S.,Napoli L.,Gorni K.,Orcesi S.,Lamperti C.,Pichiecchio A.,Signaroldi E.,Tupler R.,Magri F.,Govoni A.,Corti S.,Bresolin N.,Moggio M.,Comi G.P.

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference32 articles.

1. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome;Moghadaszadeh;Nat Genet,2001

2. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif;Lescure;J Biol Chem,1999

3. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies;Ferreiro;Am J Hum Genet,2002

5. SEPN1: associated with congenital fiber-type disproportion and insulin resistance;Clarke;Ann Neurol,2006

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