Published in Orphanet J Rare Dis on October 12, 2013
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients. J Inherit Metab Dis (2015) 0.87
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med (2015) 0.86
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther (2014) 0.82
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol (2016) 0.76
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol (2014) 0.75
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome. Orphanet J Rare Dis (2017) 0.75
Mitochondrial Copy Number and D-Loop Variants in Pompe Patients. Cell J (2016) 0.75
Can stapedius reflex testing objectively measure muscle function in Pompe patients? Clin Case Rep (2015) 0.75
Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis (2014) 0.75
(13)C/(31)P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease. Mol Ther Methods Clin Dev (2017) 0.75
ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med (2002) 31.79
Gait speed and survival in older adults. JAMA (2011) 15.01
Bosentan therapy for pulmonary arterial hypertension. N Engl J Med (2002) 11.18
The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci (1999) 9.95
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr (2004) 3.86
Improvement in usual gait speed predicts better survival in older adults. J Am Geriatr Soc (2007) 3.48
Interpreting small differences in functional status: the Six Minute Walk test in chronic lung disease patients. Am J Respir Crit Care Med (1997) 3.28
The minimal important difference in the 6-minute walk test for patients with pulmonary arterial hypertension. Am J Respir Crit Care Med (2012) 3.24
A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med (2010) 3.05
The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve (2010) 2.78
Forced vital capacity in patients with idiopathic pulmonary fibrosis: test properties and minimal clinically important difference. Am J Respir Crit Care Med (2011) 2.62
Six-minute-walk test in idiopathic pulmonary fibrosis: test validation and minimal clinically important difference. Am J Respir Crit Care Med (2010) 2.40
The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol (2005) 2.39
Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol (2008) 2.25
The SF-36 and SGRQ: validity and first look at minimum important differences in IPF. Respir Med (2009) 2.18
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve (2007) 1.99
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics (2008) 1.95
The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. Muscle Nerve (2010) 1.93
The 6-min walk distance in healthy subjects: reference standards from seven countries. Eur Respir J (2010) 1.90
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol (2009) 1.90
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. Neurology (2011) 1.86
Interpretation of treatment changes in 6-minute walk distance in patients with COPD. Eur Respir J (2008) 1.82
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet (1999) 1.76
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet (1998) 1.75
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord (2010) 1.62
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab (2012) 1.58
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol (2012) 1.57
Marginal decline in forced vital capacity is associated with a poor outcome in idiopathic pulmonary fibrosis. Eur Respir J (2009) 1.51
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 1.46
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab (2010) 1.32
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2011) 1.32
Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiother Res Int (2011) 1.31
Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet (2012) 1.19
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
Determining the minimal clinically important difference for the six-minute walk test and the 200-meter fast-walk test during cardiac rehabilitation program in coronary artery disease patients after acute coronary syndrome. Arch Phys Med Rehabil (2011) 1.19
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis (2012) 1.17
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord (2008) 1.15
Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve (2008) 1.15
Quantifying gait impairment in multiple sclerosis using GAITRite technology. Gait Posture (2011) 1.13
Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial. Arch Neurol (2005) 1.12
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
Association between walking speed and age in healthy, free-living individuals using mobile accelerometry--a cross-sectional study. PLoS One (2011) 1.06
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis (2013) 1.04
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Ann Neurol (2005) 1.04
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis (2012) 1.03
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis (2011) 1.00
Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord (2013) 0.98
Effects of scoliosis on respiratory muscle strength in patients with neuromuscular disorders. Spine J (2009) 0.95
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes (2007) 0.94
Accuracy of the actibelt(®) accelerometer for measuring walking speed in a controlled environment among persons with multiple sclerosis. Gait Posture (2011) 0.92
Supine volume drop and diaphragmatic function in adults with Pompe disease. Eur Respir J (2012) 0.91
First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab (2011) 0.90
Responsiveness of the motor function measure in neuromuscular diseases. Arch Phys Med Rehabil (2012) 0.87
Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr (2012) 0.86
24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg (2011) 0.85
Strengths and limitations of the six-minute-walk test: a model biomarker study in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med (2011) 0.85
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis (2010) 0.85
Early presentation of gait impairment in Wolfram Syndrome. Orphanet J Rare Dis (2012) 0.85
Outcome measures in the lung. Rheumatology (Oxford) (2008) 0.85
CINRG pilot trial of coenzyme Q10 in steroid-treated Duchenne muscular dystrophy. Muscle Nerve (2011) 0.85
Relationships between motor impairments and activity limitations in patients with neuromuscular disorders. J Neurol Neurosurg Psychiatry (2008) 0.84
Effects of 3 weeks' whole body vibration training on muscle strength and functional mobility in hospitalized persons with multiple sclerosis. Mult Scler (2011) 0.82
The Rasch-built Pompe-specific activity (R-PAct) scale. Neuromuscul Disord (2012) 0.82
Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung (2013) 0.81
A short and validated multiple sclerosis-specific health-related quality of life measurement for routine medical practice. Eur J Neurol (2013) 0.81
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve (2012) 0.80
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy. Muscle Nerve (2009) 0.79
Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children. Eur Respir J (2012) 0.79
Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy. J Inherit Metab Dis (2009) 0.79
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis (2011) 0.78
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease. Brain Dev (2011) 0.76
The 10-metre gait speed as a functional biomarker in amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 0.76
Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A (2010) 3.58
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain (2010) 1.93
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol (2009) 1.90
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy. Sci Transl Med (2012) 1.78
The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab (2012) 1.60
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol (2012) 1.57
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 1.46
Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis. J Neurol (2011) 1.39
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res (2008) 1.23
Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol (2009) 1.22
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol (2011) 1.21
Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet (2012) 1.19
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis (2012) 1.17
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci (2009) 1.13
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol (2009) 1.12
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol (2013) 1.11
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. FASEB J (2010) 1.09
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord (2010) 1.08
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev (2014) 1.07
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet (2013) 1.03
Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscul Disord (2011) 1.01
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord (2012) 1.01
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat (2013) 0.95
Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis (2009) 0.94
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle. Hum Mol Genet (2013) 0.93
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. BMC Med Genet (2013) 0.91
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet (2012) 0.91
RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2. Am J Pathol (2011) 0.91
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol (2016) 0.91
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). PLoS One (2011) 0.90
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat (2009) 0.89
Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report. Neuromuscul Disord (2009) 0.89
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol (2010) 0.89
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. Muscle Nerve (2012) 0.88
Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord (2012) 0.88
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients. Acta Neuropathol Commun (2014) 0.87
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord (2011) 0.87
Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction. Acta Cardiol (2004) 0.86
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy. Neuromuscul Disord (2013) 0.85
Reducing body myopathy and other FHL1-related muscular disorders. Semin Pediatr Neurol (2011) 0.81
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol (2011) 0.80
Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. Proteomics (2012) 0.80
Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey. JIMD Rep (2014) 0.79
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev (2010) 0.78
A role for PLCβ1 in myotonic dystrophies type 1 and 2. FASEB J (2012) 0.78
How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. Neurology (2009) 0.77
Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics (2014) 0.76
Perceived pain and temporomandibular disorders in neuromuscular diseases. Muscle Nerve (2009) 0.75
Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement? J Clin Neurophysiol (2014) 0.75
2010 Marigold therapeutic strategies for myotonic dystrophy. Neuromuscul Disord (2011) 0.75
Editorial introductions. Curr Opin Neurol (2017) 0.75