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List of works by Sabrina Lucchiari

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

scientific article

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

scientific article (publication date: August 2001)

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

scientific article

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient

scientific article published on October 2013

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Developmental and tissue-specific regulation of a novel dysferlin isoform.

scientific article published in September 2004

Glycogen storage disease type III: A novel Agl knockout mouse model.

scientific article

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

scientific article published on 23 January 2014

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

scientific article published in December 2002

Mutational analysis of the AGL gene: five novel mutations in GSD III patients

scientific article published on 01 October 2003

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

scientific article published on 8 April 2009

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

scientific article published in 1999

Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel

scientific article published on 01 December 1998

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

scientific article

Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis

scientific article published on 01 January 1999

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