Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)

[1]  X. Suárez-Calvet,et al.  Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands , 2022, European journal of neurology.

[2]  B. Brais,et al.  Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians , 2020, Annals of neurology.

[3]  J. Glennon,et al.  Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy , 2021, Neurology.

[4]  G. Dickson,et al.  BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy , 2021, Molecular therapy. Nucleic acids.

[5]  Arun K. Ramani,et al.  Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy , 2021, Clinical genetics.

[6]  H. Buermans,et al.  Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy , 2020, International journal of molecular sciences.

[7]  A. Heerschap,et al.  Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD , 2020, Journal of neuromuscular diseases.

[8]  J. Vissing,et al.  MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy , 2020, Annals of neurology.

[9]  B. Brais,et al.  A study of impairments in oculopharyngeal muscular dystrophy , 2020, Muscle & nerve.

[10]  E. Mercuri,et al.  MYO-MRI diagnostic protocols in genetic myopathies , 2019, Neuromuscular Disorders.

[11]  Martijn Froeling,et al.  Multi‐center evaluation of stability and reproducibility of quantitative MRI measures in healthy calf muscles , 2019, NMR in biomedicine.

[12]  J. Reginster,et al.  Assessment of Muscle Function and Physical Performance in Daily Clinical Practice , 2019, Calcified Tissue International.

[13]  N. Kharma,et al.  RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement , 2019, Molecular therapy. Nucleic acids.

[14]  C. Horlings,et al.  Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[15]  N. van Alfen,et al.  Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers , 2018, Journal of Neurology.

[16]  Christa Boer,et al.  Correlation Coefficients: Appropriate Use and Interpretation , 2018, Anesthesia and analgesia.

[17]  A. Heerschap,et al.  Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy , 2017, Neuromuscular Disorders.

[18]  V. Straub,et al.  The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease , 2017, Neuropediatrics.

[19]  J. Burakiewicz,et al.  Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy , 2017, Journal of Neurology.

[20]  L. Martin,et al.  How much do clinical trials cost? , 2017, Nature Reviews Drug Discovery.

[21]  A. Marusin,et al.  Haplotype analysis of oculopharyngeal muscular dystrophy (OPMD) locus in Yakutia , 2016, Russian Journal of Genetics.

[22]  Volker Straub,et al.  TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI 25–26 February 2011, Rome, Italy , 2012, Neuromuscular Disorders.

[23]  O. Bieri,et al.  Quantitative MRI can detect subclinical disease progression in muscular dystrophy , 2012, Journal of Neurology.

[24]  Nick Miller,et al.  Reliability of speech diadochokinetic test measurement. , 2008, International journal of language & communication disorders.

[25]  W. Kress,et al.  Variability of the recessive oculopharyngeal muscular dystrophy phenotype , 2007, Muscle & nerve.

[26]  Guido Gerig,et al.  User-guided 3D active contour segmentation of anatomical structures: Significantly improved efficiency and reliability , 2006, NeuroImage.

[27]  M. Geffner,et al.  Obesity and fat quantification in lean tissues using three-point Dixon MR imaging , 2005, Pediatric Radiology.

[28]  P. Gleyze,et al.  Influence of cuff muscle fatty degeneration on anatomic and functional outcomes after simple suture of full-thickness tears. , 2003, Journal of shoulder and elbow surgery.

[29]  G. Bydder,et al.  A short protocol for muscle MRI in children with muscular dystrophies. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[30]  L. Morrison,et al.  Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. , 2001, JAMA.

[31]  B. Goodpaster,et al.  Fat content in individual muscle fibers of lean and obese subjects , 2001, International Journal of Obesity.

[32]  S. Blumen,et al.  Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene , 2000, Neurology.

[33]  J. Rommens,et al.  Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy , 1998, Nature Genetics.

[34]  J. Bouchard André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America , 1997, Neuromuscular Disorders.

[35]  G H Guyatt,et al.  Effect of encouragement on walking test performance. , 1984, Thorax.

[36]  J. R. Landis,et al.  The measurement of observer agreement for categorical data. , 1977, Biometrics.