Published in Neuromuscul Disord on June 30, 2008
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Neuromuscul Disord (2012) 1.59
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. BMC Med Genet (2013) 0.91
Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears. Curr Mol Med (2014) 0.79
Unusual association of FSHD and extramedullary thoracic tumour in the same patient: a case report. Acta Myol (2009) 0.76
Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story? Rare Dis (2013) 0.75
Competency-based medical education: theory to practice. Med Teach (2010) 7.76
Pathogenesis of chytridiomycosis, a cause of catastrophic amphibian declines. Science (2009) 4.45
Evaluation of a cervicography-based program to ensure quality of visual inspection of the cervix in HIV-infected women in Johannesburg, South Africa. J Low Genit Tract Dis (2015) 3.30
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet (2010) 2.95
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat (2009) 2.84
Environment. Looming global-scale failures and missing institutions. Science (2009) 2.52
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet (2009) 2.51
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet (2013) 1.97
Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study. Lancet Neurol (2011) 1.92
Validation of cervical cancer screening methods in HIV positive women from Johannesburg South Africa. PLoS One (2013) 1.83
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Tree cover in sub-Saharan Africa: rainfall and fire constrain forest and savanna as alternative stable states. Ecology (2011) 1.64
Radiation-induced vertebral compression fracture following spine stereotactic radiosurgery: clinicopathological correlation. J Neurosurg Spine (2013) 1.61
Evaluation of email alerts in practice: Part 2. Validation of the information assessment method. J Eval Clin Pract (2010) 1.54
Congenital myotonic dystrophy: Canadian population-based surveillance study. J Pediatr (2013) 1.54
The effect of continuing professional development on public complaints: a case-control study. Med Educ (2015) 1.53
Association between cervical dysplasia and human papillomavirus in HIV seropositive women from Johannesburg South Africa. Cancer Causes Control (2009) 1.52
Identification of a potential physiological precursor of aberrant cells in refractory coeliac disease type II. Gut (2012) 1.52
Coping with uncertainty: a call for a new science-policy forum. Ambio (2003) 1.51
A population-based study of dystrophin mutations in Canada. Can J Neurol Sci (2011) 1.47
Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve (2014) 1.41
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA (2012) 1.40
Intramural radiofrequency ablation: effects of electrode temperature and length. Pacing Clin Electrophysiol (2004) 1.40
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS. Mol Cell Neurosci (2011) 1.38
Just-in-time information improved decision-making in primary care: a randomized controlled trial. PLoS One (2008) 1.32
The survival of the conformist: social pressure and renewable resource management. J Theor Biol (2011) 1.27
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet (2013) 1.25
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain (2007) 1.23
Diverse and high prevalence of human papillomavirus associated with a significant high rate of cervical dysplasia in human immunodeficiency virus-infected women in Johannesburg, South Africa. Acta Cytol (2009) 1.20
Interpersonal perception in the context of doctor-patient relationships: a dyadic analysis of doctor-patient communication. Soc Sci Med (2009) 1.17
Decentralize, adapt and cooperate. Nature (2010) 1.15
Developing an instrument to measure bias in CME. J Contin Educ Health Prof (2007) 1.12
Peer assessment of outpatient consultation letters--feasibility and satisfaction. BMC Med Educ (2007) 1.11
Diversity in current ecological thinking: implications for environmental management. Environ Manage (2008) 1.08
Highly active antiretroviral therapy and cervical dysplasia in HIV-positive women in South Africa. J Int AIDS Soc (2012) 1.05
Subacute sclerosing panencephalitis: results of the Canadian Paediatric Surveillance Program and review of the literature. BMC Pediatr (2005) 1.02
TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol (2010) 0.97
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol (2013) 0.96
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. Acta Neuropathol (2015) 0.95
Systematic review of the effectiveness of training programs in writing for scholarly publication, journal editing, and manuscript peer review (protocol). Syst Rev (2013) 0.95
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy. J Am Soc Nephrol (2002) 0.95
Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumors. Cancer Res (2011) 0.94
Merging economics and epidemiology to improve the prediction and management of infectious disease. Ecohealth (2014) 0.93
Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions. BMC Genomics (2013) 0.93
IGF-II induces CREB phosphorylation and cell survival in human lung cancer cells. Oncogene (2005) 0.93
Superinfection and the evolution of resistance to antimalarial drugs. Proc Biol Sci (2012) 0.92
Self-assessment and continuing professional development: the Canadian perspective. J Contin Educ Health Prof (2008) 0.91
Menkes disease and infantile epilepsy. Brain Dev (2011) 0.90
Duchenne muscular dystrophy: Canadian paediatric neuromuscular physicians survey. Can J Neurol Sci (2010) 0.90
Effects of simultaneous insertion of 66 plunge needle electrodes on myocardial activation, function, and structure. Pacing Clin Electrophysiol (2003) 0.89
Interventions to improve question formulation in professional practice and self-directed learning. Cochrane Database Syst Rev (2010) 0.89
Infant flow biphasic nasal continuous positive airway pressure (BP- NCPAP) vs. infant flow NCPAP for the facilitation of extubation in infants' ≤ 1,250 grams: a randomized controlled trial. BMC Pediatr (2012) 0.88
Atypical squamous cells, cannot exclude high grade squamous intraepithelial (ASC-H) in HIV-positive women. Cytojournal (2010) 0.88
Picturing the Experience of Living With Myotonic Dystrophy (DM1): A Qualitative Exploration Using Photovoice. J Neurosci Nurs (2015) 0.88
Congenital myotonic dystrophy in a national registry. Paediatr Child Health (2010) 0.87
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann Neurol (2011) 0.87
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain (2013) 0.86
Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing. PLoS One (2011) 0.86
Symptomatic dystrophinopathies in female children. Neuromuscul Disord (2010) 0.86
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet (2011) 0.85
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Hum Genet (2005) 0.84
Histopathological characteristics of the "spot sign" in spontaneous intracerebral hemorrhage. Arch Neurol (2012) 0.84
What do Canadians think about physician-pharmaceutical industry interactions? Health Policy (2013) 0.84
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2005) 0.84
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord (2006) 0.83
Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death. Acta Neuropathol (2015) 0.83
Controlling quality in CME/CPD by measuring and illuminating bias. J Contin Educ Health Prof (2011) 0.83
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. Am J Med Genet A (2012) 0.83
Hypofractionated stereotactic radiotherapy in five daily fractions for post-operative surgical cavities in brain metastases patients with and without prior whole brain radiation. Technol Cancer Res Treat (2013) 0.83
Assessing severity of epilepsy in children: preliminary evidence of validity and reliability of a single-item scale. Epilepsy Behav (2008) 0.82
Functionalised 2,3-dimethyl-3-aminotetrahydrofuran-4-one and N-(3-oxo-hexahydrocyclopenta[b]furan-3a-yl)acylamide based scaffolds: synthesis and cysteinyl proteinase inhibition. Bioorg Med Chem (2004) 0.81
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47. Eur J Hum Genet (2011) 0.80
The CNDR: collaborating to translate new therapies for Canadians. Can J Neurol Sci (2013) 0.80
Transmural mapping of myocardial refractoriness and endocardial dispersion of repolarization in an ovine model of chronic myocardial infarction. Pacing Clin Electrophysiol (2009) 0.79
Rainfall and temperatures changes have confounding impacts on Phytophthora cinnamomi occurrence risk in the southwestern USA under climate change scenarios. Glob Chang Biol (2014) 0.79
Osmotic myelinolysis with malignant cerebellar edema occurring after DDAVP-induced hyponatremia in a child. Pediatr Neurosurg (2010) 0.79
Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association. Pediatr Nephrol (2010) 0.79
Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool. Can J Neurosci Nurs (2011) 0.78
The cutaneous angioma of Sturge-Weber syndrome. Can J Neurol Sci (2008) 0.78
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. Hum Genet (2005) 0.78
Cross-reactive immune responses as primary drivers of malaria chronicity. Infect Immun (2013) 0.78
A quantitative measure of handgrip myotonia in non-dystrophic myotonia. Muscle Nerve (2012) 0.78
The relationship between physician participation in continuing professional development programs and physician in-practice peer assessments. Acad Med (2014) 0.77
Linking plant disease risk and precipitation drivers: a dynamical systems framework. Am Nat (2012) 0.77
Early treatment of a progressive Rasmussen's like syndrome with ganciclovir. Can J Neurol Sci (2011) 0.77
Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy. Muscle Nerve (2008) 0.77
Decomposition-based quantitative electromyography in the evaluation of muscular dystrophy severity. Muscle Nerve (2012) 0.76
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? Ann Am Thorac Soc (2014) 0.76
Pathophysiological implications of focal cortical dysplasia of end folium for hippocampal sclerosis. Epilepsy Res (2009) 0.76
LGI1 autoantibodies associated with cerebellar degeneration. Neuropathol Appl Neurobiol (2014) 0.76
Slowing Down of Recovery as Generic Risk Marker for Acute Severity Transitions in Chronic Diseases. Crit Care Med (2016) 0.76
Synthesis and evaluation of cis-hexahydropyrrolo[3,2-b]pyrrol-3-one peptidomimetic inhibitors of CAC1 cysteinyl proteinases. Bioorg Med Chem (2005) 0.76
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis (2013) 0.76
Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol (2013) 0.75