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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Lancet neurology, 2011-09, Vol.10 (9), p.806-818

2011

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NFL is a marker of treatment response in children with SMA treated with nusinersen

Journal of neurology, 2019-09, Vol.266 (9), p.2129-2136

2019

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Mitochondrial Encephalomyopathies

Journal of neuropathology and experimental neurology, 2003-03, Vol.62 (3), p.217-227

2003

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Quality of life of patients with spinal muscular atrophy: A systematic review

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.347-356

2019

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Orofacial dysfunction in children and adolescents with myotonic dystrophy

Developmental medicine and child neurology, 2007-01, Vol.49 (1), p.18

2007

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Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death

Journal of neurology, 2024-04

2024

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Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Developmental medicine and child neurology, 2009-12, Vol.51 (12), p.982-990

2009

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Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2007-12, Vol.17 (11), p.919-928

2007

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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.574-582

2021

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THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

Muscle & nerve, 2013-09, Vol.48 (3), p.343-356

2013

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The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Muscle & nerve, 2013-09, Vol.48 (3), p.357-368

2013

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Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy

Child neuropsychology, 2023-08, Vol.29 (6), p.959-972

2023

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A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

Neuromuscular disorders : NMD, 2009-02, Vol.19 (2), p.147-150

2009

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POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Journal of neuropathology and experimental neurology, 2006-08, Vol.65 (8), p.758-768

2006

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Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Journal of neurology, 2014-05, Vol.261 (5), p.870-876

2014

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The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures

Muscle & nerve, 2013-07, Vol.48 (1), p.55-67

2013

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Comparison of ambulatory capacity and disease progression of duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.203-213

2017

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Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.843-847

2017

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Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

Developmental medicine and child neurology, 2005-07, Vol.47 (7), p.478-485

2005

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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (3), p.219

2011

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Phenotypic and genotypic variability in Alpers syndrome

European journal of paediatric neurology, 2012-07, Vol.16 (4), p.379-389

2012

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Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Muscle & nerve, 2014-08, Vol.50 (2), p.250-256

2014

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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

NFL is a marker of treatment response in children with SMA treated with nusinersen

Mitochondrial Encephalomyopathies

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

Quality of life of patients with spinal muscular atrophy: A systematic review

Orofacial dysfunction in children and adolescents with myotonic dystrophy

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Comparison of ambulatory capacity and disease progression of duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Phenotypic and genotypic variability in Alpers syndrome

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

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