Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning

[1] Padberg GW(2009)Facioscapulohumeral muscular dystrophy Curr Opin Neurol 22 539-542

[2] van Engelen BG(2010)A unifying genetic model for facioscapulohumeral muscular dystrophy Science 329 1650-1653

[3] Lemmers RJLF(2015)Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine Neurology 85 357-364

[4] van der Vliet PJ(2012)Atypical onset in a series of 122 cases with facioscapulohumeral muscular dystrophy Clin Neurol Neurosurg 114 230-234

[5] Klooster R(2016)A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes J Neurol 263 1204-1214

[6] Tawil R(2020)Phenotypic variability among patients with D4Z4 reduced allele facioscapulohumeral muscular dystrophy JAMA Netw Open 3 628-635

[7] Kissel JT(2012)Large-scale population analysis challenges the current criteria for the molecular diagnosis of facioscapulohumeral muscular dystrophy Am J Hum Genet 90 56-61

[8] Heatwole C(2015)Genetic and epigenetic contributors to FSHD Curr Opin Genet Dev 33 41-46

[9] Pandya S(2012)Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity J Med Genet 49 999-1003

[10] Gronseth G(2012)Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis Eur J Hum Genet 20 956-962

[1] Padberg GW(2009)Facioscapulohumeral muscular dystrophy Curr Opin Neurol 22 539-542

[2] van Engelen BG(2010)A unifying genetic model for facioscapulohumeral muscular dystrophy Science 329 1650-1653

[3] Lemmers RJLF(2015)Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine Neurology 85 357-364

[4] van der Vliet PJ(2012)Atypical onset in a series of 122 cases with facioscapulohumeral muscular dystrophy Clin Neurol Neurosurg 114 230-234

[5] Klooster R(2016)A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes J Neurol 263 1204-1214

[6] Tawil R(2020)Phenotypic variability among patients with D4Z4 reduced allele facioscapulohumeral muscular dystrophy JAMA Netw Open 3 628-635

[7] Kissel JT(2012)Large-scale population analysis challenges the current criteria for the molecular diagnosis of facioscapulohumeral muscular dystrophy Am J Hum Genet 90 56-61

[8] Heatwole C(2015)Genetic and epigenetic contributors to FSHD Curr Opin Genet Dev 33 41-46

[9] Pandya S(2012)Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity J Med Genet 49 999-1003

[10] Gronseth G(2012)Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis Eur J Hum Genet 20 956-962