The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
暂无分享,去创建一个
V. Zhang | Jing Li | Liang Wang | Huan Li | Yuling Zhu | R. He | Jinfu Lin | Yiming Sun | Shaoyuan Li | Cheng Zhang
[1] M. Milone,et al. Untangling the complexity of limb‐girdle muscular dystrophies , 2018, Muscle & nerve.
[2] S. Khadilkar,et al. Making sense of the clinical spectrum of limb girdle muscular dystrophies , 2018, Practical Neurology.
[3] C. Angelini,et al. Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy , 2017 .
[4] H. Lv,et al. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing , 2017, PLoS ONE.
[5] S. Khadilkar,et al. Limb-girdle Muscular Dystrophies in India: A Review , 2017, Annals of Indian Academy of Neurology.
[6] C. Bönnemann,et al. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016 , 2017, Neuromuscular Disorders.
[7] Clara Gaff,et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.
[8] N. Bresolin,et al. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis , 2017, Muscle & nerve.
[9] Wei Zhang,et al. Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy , 2016, Chinese medical journal.
[10] J. Vissing. Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. , 2016, Current opinion in neurology.
[11] K. Flanigan,et al. Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale. , 2016, Pediatric neurology.
[12] I. Nishino,et al. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders , 2016, Journal of Medical Genetics.
[13] Hai-po Yang,et al. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies , 2016, Journal of Human Genetics.
[14] H. Lv,et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy , 2016, Muscle & nerve.
[15] Rachel Thompson,et al. Limb-girdle muscular dystrophies — international collaborations for translational research , 2016, Nature Reviews Neurology.
[16] Sung Im Cho,et al. Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience , 2016, Clinical genetics.
[17] V. Straub,et al. Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? , 2016, Neuromuscular Disorders.
[18] Min Goo Lee,et al. Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations , 2015, Yonsei medical journal.
[19] Nan Li,et al. Semi-quantitative assessment of lower limb MRI in dystrophinopathy , 2016 .
[20] E. Hoffman,et al. Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. , 2016, Journal of neuromuscular diseases.
[21] I. Nelson,et al. A new titinopathy , 2015, Neurology.
[22] N. Jetté,et al. A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies , 2015, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[23] Chih-Hung Chou,et al. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS , 2015, Neurology: Genetics.
[24] Z. Argov,et al. GNE Myopathy: Two Clusters with History and Several Founder Mutations , 2015, Journal of neuromuscular diseases.
[25] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[26] A. Bastian,et al. The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members , 2015, Romanian journal of internal medicine = Revue roumaine de medecine interne.
[27] A. Verbeek,et al. The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. , 2015, Journal of neuromuscular diseases.
[28] C. Béroud,et al. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene , 2014, Human mutation.
[29] Nathalie Jette,et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy , 2014, Neuromuscular Disorders.
[30] A. Mayhew,et al. Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study , 2014, PloS one.
[31] Y. Hayashi,et al. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan , 2013, Neuromuscular Disorders.
[32] Xin-mei Jiang,et al. Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China , 2013, Neural regeneration research.
[33] R. J. Haan,et al. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies , 2012 .
[34] R. D. de Haan,et al. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies , 2012, Neurology.
[35] N. Camp,et al. Genetic distance and markers used in linkage mapping. , 2011, Methods in molecular biology.
[36] M. Tabaku,et al. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. , 2011, Genetic Counseling.
[37] G. Meola,et al. Muscle biopsy , 2011, Journal of Neurology.
[38] C. Paradas,et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies , 2010, Neurology.
[39] M. Wattjes,et al. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole‐body 3.0‐T magnetic resonance imaging study , 2009, Acta neurologica Scandinavica.
[40] B. Engelen,et al. Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies , 2009, Journal of Neurology.
[41] C. Béroud,et al. Analysis of the DYSF mutational spectrum in a large cohort of patients , 2009, Human mutation.
[42] K. Bushby,et al. Dysferlin‐deficient muscular dystrophy features amyloidosis , 2008, Annals of neurology.
[43] D. D. De Vivo,et al. Delayed developmental language milestones in children with Duchenne's muscular dystrophy. , 2007, The Journal of pediatrics.
[44] Francesco Muntoni,et al. Muscle MRI in inherited neuromuscular disorders: Past, present, and future , 2007, Journal of magnetic resonance imaging : JMRI.
[45] L. Kunkel,et al. A novel mutation in two families with limb-girdle muscular dystrophy type 2C , 2006, Neurology.
[46] M. Schwartz,et al. High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark , 2006, Annals of neurology.
[47] H. Urbach,et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs , 2005, Journal of Neurology.
[48] S. Kapoor,et al. Beta-sarcoglycanopathy , 2005, Indian journal of pediatrics.
[49] Y. Itoyama,et al. Dysferlin mutations in Japanese Miyoshi myopathy , 2003, Neurology.
[50] I. Nonaka,et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy , 2001, Neuromuscular Disorders.
[51] J. Beckmann,et al. Clinical, pathological, and genetic features of limb‐girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families , 1998, Muscle & nerve.
[52] E. Hoffman,et al. Mutations in the sarcoglycan genes in patients with myopathy. , 1997, The New England journal of medicine.
[53] R. Ike,et al. Muscle biopsy , 1995, Current opinion in rheumatology.
[54] L. Kunkel,et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin , 1995, Annals of neurology.