S. Lucchiari

发表

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

G. Comi, E. Redaelli, G. Meola, 2020, Frontiers in Neurology.

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

S. Salani, N. Bresolin, L. Morandi, 2008, Human mutation.

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

N. Bresolin, S. Corti, G. Meola, 2008, Journal of the Neurological Sciences.

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

N. Bresolin, G. Comi, S. Corti, 2014, Biochimica et biophysica acta.

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

N. Bresolin, G. Comi, G. Scarlato, 2002, American journal of medical genetics.

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

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Biology Reports.

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

M. Ferrari, P. Righetti, C. Gelfi, 1998, Clinical chemistry and laboratory medicine.

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

S. Salani, N. Bresolin, G. Comi, 2009, Journal of Inherited Metabolic Disease.

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

M. Lo Monaco, A. D’Amico, D. Conte Camerino, 2016, Neurology.

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

G. Comi, E. Malfatti, I. Richard, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

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

G. Comi, A. Salmaggi, A. Rigamonti, 2021, Neurological Sciences.

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

Garrett M. Dancik, H. Frierson, G. Comi, 2018, Carcinogenesis.

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

G. Comi, G. Meola, S. Pagliarani, 2022, Frontiers in Neurology.

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

G. Comi, G. Meola, M. Lo Monaco, 2018, Human mutation.

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

G. Comi, A. Rossi, F. Ginanneschi, 2017, Neurophysiologie Clinique/Clinical Neurophysiology.

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

N. Bresolin, S. Corti, E. Redaelli, 2012, Journal of the Neurological Sciences.

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

Ali Saad, G. Comi, M. Gribaa, 2011, Journal of Human Genetics.

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL

S. Salani, N. Bresolin, M. Filocamo, 2006, Human mutation.

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

S. Salani, N. Bresolin, G. Comi, 1999, Journal of Inherited Metabolic Disease.

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

N. Bresolin, G. Scarlato, D. Melis, 2002, Human mutation.

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

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Biology Reports.

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

G Scarlato, N. Bresolin, G. Scarlato, 2001, Annals of neurology.

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

F. Zunino, M. Ferrari, P. Righetti, 1999, Clinical chemistry.

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

D. Pareyson, M. Mora, A. Mazzeo, 2014, Neuromuscular Disorders.

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

N. Bresolin, G. Comi, S. Corti, 2018, Biochimica et Biophysica Acta - Molecular Basis of Disease.

Developmental and tissue‐specific regulation of a novel dysferlin isoform

S. Salani, N. Bresolin, G. Comi, 2004, Muscle and Nerve.

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

G. Comi, G. Meola, A. Federico, 2021, Neurological Sciences.

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.

M. Moggio, M. Lecchi, F. Magri, 2013, Journal of physiology and pharmacology : an official journal of the Polish Physiological Society.

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.

D. Santoro, G. Comi, S. Pagliarani, 2007, Acta myologica.