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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018, Vol.39 (8), p.1491-1492

2018

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p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

Case report: Dihydropyridine receptor ( CACNA1S ) congenital myopathy, a novel phenotype with early onset periodic paralysis

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

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

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

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia

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

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na v 1.4

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

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

Developmental and tissue-specific regulation of a novel dysferlin isoform

Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

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

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia

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