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List of works by Francesca Magri

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

scientific article published on 8 January 2014

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

scientific article

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

scientific article published on 09 May 2014

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

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

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015

Direct reprogramming of human astrocytes into neural stem cells and neurons.

scientific article

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

scientific article

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

scientific article published on 12 March 2011

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

scientific article

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

scientific article published on 24 September 2015

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

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

scientific article published on 23 January 2014

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

scientific article published in 2012

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

scientific article

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

scientific article

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

scientific article published on 01 September 2005

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

scientific journal article

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

scientific article published in January 2011

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients

scientific article published on 25 January 2012

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

scientific article published on 07 February 2020

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

scientific article published on 18 June 2013

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

scientific article published on 22 December 2011

Pluripotent stem cell-based models of spinal muscular atrophy

scientific article

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

scientific article published in May 2013

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

scientific article

Respiratory pattern in an adult population of dystrophic patients

scientific article published in July 2011

Revised Genetic Classification of Limb Girdle Muscular Dystrophies

scientific article published on 10 October 2014

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review

scientific article published on 16 September 2014

Therapeutic development in amyotrophic lateral sclerosis.

scientific article published on 07 February 2015

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

scientific article

miRNA in spinal muscular atrophy pathogenesis and therapy

scientific article published on 21 November 2017

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