Lista de obras -

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2017

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

artículo científico publicado en 2015

A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results

artículo científico publicado en 2013

A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"?

artículo científico publicado en 2014

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2018

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

scientific article published on 01 September 2019

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

artículo científico publicado en 2018

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

scientific article published on 06 March 2019

Antepartum and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy.

artículo científico publicado en 2013

Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report.

artículo científico publicado en 2015

Assessing Joint Hypermobility in Preschool-Aged Children.

artículo científico publicado en 2016

Behavioral Profile in RASopathies

scientific article published on 23 January 2014

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

artículo científico publicado en 2015

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings

scientific article published on 01 January 2019

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

artículo científico publicado en 2013

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

article

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

artículo científico publicado en 2017

Clinical variability in spinal muscular atrophy type III

artículo científico publicado en 2020

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

artículo científico publicado en 2014

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

artículo científico publicado en 2016

Cognitive decline in Dravet syndrome: is there a cerebellar role?

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Cognitive-behavioral profiles in teenagers with Dravet syndrome.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Corrigendum to "Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy" [Neuromuscular Disorders 26/9 (2016) 576-583].

artículo científico publicado en 2017

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

artículo científico publicado en 2012

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

artículo científico publicado en 2017

Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.

artículo científico publicado en 2016

Development of an academic disease registry for spinal muscular atrophy

artículo científico publicado en 2019

Developmental milestones in type I spinal muscular atrophy

artículo científico publicado en 2016

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

artículo científico publicado en 2020

Disorders of early language development in Dravet syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

artículo científico publicado en 2016

Duchenne muscular dystrophy and epilepsy.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Early involvement of the supinator muscle in Duchenne muscular dystrophy.

artículo científico publicado en 2017

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

Effects of Lycra suits in children with cerebral palsy

artículo científico publicado en 2018

Efficacy of idebenone in Duchenne muscular dystrophy

artículo científico publicado en 2015

Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

artículo científico publicado en 2018

Evidence-based care in Duchenne muscular dystrophy

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Follow-up to Age 4 Years of Treatment of Type 1 Retinopathy of Prematurity Intravitreal Bevacizumab Injection versus Laser: Fluorescein Angiographic Findings

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

artículo científico publicado en 2020

Genetic therapies for inherited neuromuscular disorders

artículo científico publicado en 2018

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Histological effects of givinostat in boys with Duchenne muscular dystrophy

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

scientific article published on 05 March 2020

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

artículo científico publicado en 2015

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Joint Laxity in Preschool Children Born Preterm.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

scientific article published on 26 August 2019

Longitudinal assessment of perceptual-motor abilities in pre-school preterm children

artículo científico publicado en 2014

Longitudinal assessments in discordant twins with SMA.

artículo científico publicado en 2017

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

artículo científico publicado en 2015

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

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

scientific article published on 27 November 2019

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

artículo científico publicado en 2016

Meeting report of the "Regulatory Exchange Matters" session at the 5th International TREAT-NMD Conference:: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular

scientific article published on 20 April 2018

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy.

artículo científico publicado en 2018

Muscular dystrophies

scientific article published on 01 March 2013

Muscular dystrophy: new challenges and review of the current clinical trials.

artículo científico

Natural history of pulmonary function in collagen VI-related myopathies

artículo científico publicado en 2013

Neonatal hypotonia and neuromuscular conditions

artículo científico publicado en 2019

Neonatal neurological examination during the first 6h after birth.

artículo científico publicado en 2017

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

artículo científico publicado en 2015

Neurofilament as a potential biomarker for spinal muscular atrophy

artículo científico publicado en 2019

Neurological assessment of late-preterm infants during the first year of age

scientific article published on 01 July 2018

Neuromuscular disorders: 2017, a year to remember

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

artículo científico publicado en 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

artículo científico publicado en 2015

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy

artículo científico publicado en 2019

Nusinersen in type 0 spinal muscular atrophy: should we treat?

scientific article published on 04 November 2020

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

artículo científico publicado en 2019

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

artículo científico publicado en 2017

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

artículo científico publicado en 2018

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

artículo científico publicado en 2015

Perceptual-motor abilities in pre-school preterm children.

artículo científico publicado en 2013

Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

artículo científico publicado en 2022

Prognostic value of the qualitative assessments of general movements in late-preterm infants.

artículo científico publicado en 2013

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

artículo científico publicado en 2016

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy

scientific article published on 22 March 2019

Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2016

Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy

scientific article published on 24 November 2020

Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period.

artículo científico publicado en 2016

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

artículo científico publicado en 2013

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

artículo científico publicado en 2017

Sex differences in cerebral palsy on neuromotor outcome: a critical review.

artículo científico publicado en 2016

Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates.

artículo científico publicado en 2013

Sleep disorders in spinal muscular atrophy.

artículo científico publicado en 2016

Sleep disturbances in preschool age children with cerebral palsy: a questionnaire study.

artículo científico publicado en 2014

Sleep-potentiated epileptiform activity in early thalamic injuries: Study in a large series (60 cases).

artículo científico publicado en 2014

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

artículo científico publicado en 2015

Stakeholder collaboration for spinal muscular atrophy therapy development

artículo científico publicado en 2017

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

artículo científico publicado en 2016

Stem cells in severe infantile spinal muscular atrophy

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

artículo científico publicado en 2017

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy

scientific article published on 30 October 2018

Therapeutic approaches for spinal muscular atrophy (SMA).

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Upper girdle imaging in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes.

artículo científico publicado en 2014

Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature.

artículo científico

Value of structured reporting in neuromuscular disorders

artículo científico publicado en 2019

Lista de obras de

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

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

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

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

A current approach to heart failure in Duchenne muscular dystrophy

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results

A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"?

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

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

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

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

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

Antepartum and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy.

Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report.

Assessing Joint Hypermobility in Preschool-Aged Children.

Behavioral Profile in RASopathies

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

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

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

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

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

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

Clinical variability in spinal muscular atrophy type III

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Cognitive decline in Dravet syndrome: is there a cerebellar role?

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

Cognitive-behavioral profiles in teenagers with Dravet syndrome.

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

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

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

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

Corrigendum to "Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy" [Neuromuscular Disorders 26/9 (2016) 576-583].

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.

Development of an academic disease registry for spinal muscular atrophy

Developmental milestones in type I spinal muscular atrophy

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

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

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Disorders of early language development in Dravet syndrome

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

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

Duchenne muscular dystrophy and epilepsy.

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

Early involvement of the supinator muscle in Duchenne muscular dystrophy.

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Effects of Lycra suits in children with cerebral palsy

Efficacy of idebenone in Duchenne muscular dystrophy

Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

Evidence-based care in Duchenne muscular dystrophy

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

Follow-up to Age 4 Years of Treatment of Type 1 Retinopathy of Prematurity Intravitreal Bevacizumab Injection versus Laser: Fluorescein Angiographic Findings

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

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

Genetic therapies for inherited neuromuscular disorders

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

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

Histological effects of givinostat in boys with Duchenne muscular dystrophy

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

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

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

Joint Laxity in Preschool Children Born Preterm.

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

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

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

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

Longitudinal assessment of perceptual-motor abilities in pre-school preterm children

Longitudinal assessments in discordant twins with SMA.

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy