List of works - Massimo Santoro

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

scientific article published on 11 July 2008

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

scientific article published in June 2014

Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2 ⬇️

scientific article published on May 11, 2013

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

scientific article published on June 2010

BDNF rs6265 Polymorphism and Its Methylation in Patients with Stroke Undergoing Rehabilitation

scientific article published on 10 November 2020

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

scientific article published on 23 January 2007

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Depression in multiple sclerosis: effect of brain derived neurotrophic factor Val66Met polymorphism and disease perception.

scientific article published on 12 January 2016

Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study

scientific article published on 5 November 2014

Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia

scientific article published on 18 November 2017

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

scientific article published on 25 February 2016

Evaluation of levodopa and carbidopa antioxidant activity in normal human lymphocytes in vitro: implication for oxidative stress in Parkinson's disease

scientific article published on 30 October 2014

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

scientific article published on 18 September 2015

Expression Profile of Long Non-Coding RNAs in Serum of Patients with Multiple Sclerosis.

scientific article published on 31 March 2016

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

scientific article published on August 2015

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

scientific article published on 18 May 2010

Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients

scientific article published on 19 March 2020

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

scientific article published on 6 January 2016

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

scientific article

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study

scientific article published in March 2013

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

scientific article published on 19 December 2016

Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.