6533b82ffe1ef96bd1294627

RESEARCH PRODUCT

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

Chiara Cerami A 12Patrizia Tarantino B 1Chiara Cupidi A 3Grazia Annesi BVincenzina Lo Re A4Monica Gagliardi BCTommaso Piccoli AAldo QuattroneC

subject

Neurologybusiness.industryMarinesco–Sjögren syndromeAutosomal recessive cerebellar ataxias Cerebellar atrophy Early-onset cataracts Marinesco-Sjögren Syndrome Mental retardation SIL1 geneCancer researchMedicineCerebellar atrophySettore MED/26 - NeurologiaNeurology (clinical)businessmedicine.diseaseAutosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; Marinesco-Sjögren Syndrome; Mental retardation; SIL1 geneFrameshift mutation

description

no abstract available

yearjournalcountryeditionlanguage
2015-07-01
10.1016/j.jns.2015.04.026http://hdl.handle.net/10447/483339