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List of works by Marcella Masciullo

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

scientific article published on 02 June 2008

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

scientific article published on 11 July 2008

Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.

scientific article published in May 2014

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

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing ⬇️

scientific article published on December 1, 2012

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

scientific article

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.

scientific article published on 25 May 2016

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

scientific article published on 27 July 2016

Development of a Psychiatric Disorder Linked to Cerebellar Lesions

scientific article published on 19 February 2018

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

scientific article published on 25 October 2013

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

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

Evidence of white matter involvement in SCA 7.

scientific article published on 19 September 2006

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

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

scientific article

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

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

scientific article published on 6 January 2016

Load Auditory Feedback Boosts Crutch Usage in Subjects With Central Nervous System Lesions: A Pilot Study

publication published on 06 July 2021

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article

Microstructural MRI Basis of the Cognitive Functions in Patients with Spinocerebellar Ataxia Type 2.

scientific article

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

scientific article

Muscle MRI in Becker muscular dystrophy

scientific article published on 01 October 2012

Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012

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

Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis

scientific article published on 25 March 2017

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

scientific article published in August 2012

Persistence of abnormal electrophysiological findings after carpal tunnel release.

scientific article published on 11 June 2013

Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy

scientific article published on 14 July 2011

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

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

scientific article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

scientific article published on 28 December 2017

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

scientific article published on 13 December 2008

Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2.

scientific article published on 22 January 2018

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

scientific article published on 04 September 2010

Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies

scientific article published in March 2009

The Cerebellar Cognitive Affective/Schmahmann Syndrome: a Task Force Paper

scientific article published on 01 February 2020

Transcranial cerebellar direct current stimulation: Effects on brain resting state oscillatory and network activity.

scientific article published in July 2017

Upper girdle imaging in facioscapulohumeral muscular dystrophy

scientific article

fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1.

scientific article published on 17 June 2013

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