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List of works by Marika Pane

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

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.

scientific article published on 14 July 2017

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in

scientific article published on 19 February 2018

A current approach to heart failure in Duchenne muscular dystrophy

scientific article published on July 2017

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

scientific article published on 26 June 2018

An observational study of functional abilities in infants, children, and adults with type 1 SMA

scientific article published on 25 July 2018

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Assessing upper limb function in nonambulant SMA patients: Development of a new module

article

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

scientific article published on 5 May 2012

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

scientific article published on 24 December 2014

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

scientific article published on 10 October 2017

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

scientific article published on 6 December 2017

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

scientific article

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

scientific article published on 4 December 2015

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 31 July 2019

Developmental milestones in type I spinal muscular atrophy

scientific article published on 5 October 2016

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

scientific article published on 14 February 2017

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

scientific article published on 04 August 2018

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

scientific article published on 14 August 2015

Early involvement of the supinator muscle in Duchenne muscular dystrophy.

scientific article published on 4 October 2017

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

scientific article published on 21 September 2017

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

scientific article published on 20 June 2018

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

scientific article

Histological effects of givinostat in boys with Duchenne muscular dystrophy

scientific article published on 11 July 2016

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

scientific article published on 16 January 2018

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

scientific article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

scientific article published on 09 July 2014

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 25 June 2019

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

scientific article published on 26 August 2019

Longitudinal assessments in discordant twins with SMA.

scientific article published on 8 July 2017

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

scientific article published on 28 December 2018

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

scientific article published in September 2011

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

scientific article

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

scientific article published on 01 June 2018

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

scientific article published on 08 July 2019

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

scientific article published on 23 May 2017

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

scientific article

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

scientific article

Revised upper limb module for spinal muscular atrophy: 12 month changes

scientific article published on 07 February 2019

Revised upper limb module for spinal muscular atrophy: Development of a new module.

scientific article

Sleep disorders in spinal muscular atrophy.

scientific article

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

scientific article published on 6 October 2014

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

scientific article published on 2 March 2015

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

scientific article

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

scientific article published on 20 June 2018

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