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Auteur Yuan Y |
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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Yu M, Zhu Y, Lu Y, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 344
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations Type de document : Article Auteurs : Yu M ; Zhu Y ; Lu Y ; Lv H ; Zhang W ; Yuan Y ; Wang Z Année de publication : 09/12/2020 Pages : p 344 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33298082 / DOI : 10.1186/s13023-020-01626-y
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33298082 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Zhong H, Zheng Y, Zhao Z, et al.
Journal of medical genetics, 2020
Revue : Journal of medical genetics Titre : Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective Type de document : Article Auteurs : Zhong H ; Zheng Y ; Zhao Z ; Lin P ; Xi J ; Zhu W ; Lin J ; Lu J ; Yu M ; Zhang W ; Lv H ; Yan C ; Hu J ; Wang Z ; Lu J ; Zhao C ; Yuan Y ; Luo S Editeur : England Année de publication : 29/09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32994280 / DOI : 10.1136/jmedgenet-2020-107159
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32994280 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Deng J, Yu J, Li P, et al.
American journal of human genetics, 2020, 106, 6, p 793
Revue : American journal of human genetics, 106, 6 Titre : Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy Type de document : Article Auteurs : Deng J ; Yu J ; Li P ; Luan X ; Cao L ; Zhao J ; Yu M ; Zhang W ; Lv H ; Xie Z ; Meng L ; Zheng Y ; Zhao Y ; Gang Q ; Wang Q ; Liu J ; Zhu M ; Guo X ; Su Y ; Liang Y ; Liang F ; Hayashi T ; Maeda MH ; Sato T ; Ura S ; Oya Y ; Ogasawara M ; Iida A ; Nishino I ; Zhou C ; Yan C ; Yuan Y ; Hong D ; Wang Z Editeur : United States Année de publication : 07/2020 Pages : p 793 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32413282 / DOI : 10.1016/j.ajhg.2020.04.011
N° Profil MNM : 2020052 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32413282 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
Wang Q, Hu Z, Chang X, et al.
Clinical genetics, 2020
Revue : Clinical genetics Titre : Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy Type de document : Article Auteurs : Wang Q, Auteur ; Hu Z ; Chang X ; Yu M ; Xie Z ; Lv H ; Zhang W ; Xiong H ; Yuan Y ; Wang Z Editeur : Denmark Année de publication : 03/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32222963 / DOI : 10.1111/cge.13745
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32222963 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex
Xie Z, Xie Z, Yu M, et al.
Orphanet journal of rare diseases, 2019, 14, 1, p 250
Revue : Orphanet journal of rare diseases, 14, 1 Titre : Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex Type de document : Article Auteurs : Xie Z, Auteur ; Xie Z ; Yu M ; Zheng Y ; Sun C ; Liu Y ; Ling C ; Zhu Y ; Zhang W ; Xiao J ; Wang Z ; Yuan Y Editeur : England Année de publication : 11/2019 Pages : p 250 Langues : Anglais (eng) Mots-clés : complexe dystrophine ; diagnostic différentiel ; dystrophie musculaire ; étude de cohorte ; IRM ; maladie neuromusculaire Pubmed / DOI : Pubmed : 31747956 / DOI : 10.1186/s13023-019-1242-y
N° Profil MNM : 2019112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31747956 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases
Hou Y, Xie Z, Zhao X, et al.
PLoS ONE, 2019, 14, 7
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Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
Chen M, Chen C, Li Y, et al.
European journal of obstetrics, gynecology, and reproductive biology, 2019, 240, p 15
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Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.
Ge L, Fu X, Zhang W, et al.
Neuromuscular disorders : NMD, 2019, 29, n5, p 350
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Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
Xie Z, Xie Z, Hou Y, et al.
Orphanet journal of rare diseases, 2019, 14, 1
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Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene
Xie Z, Xiao J, Zheng Y, et al.
BioMed research international, 2018
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Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies
Fan Y, Liu A, Wei C, et al.
Clinical genetics, 2018
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Association of hepatitis E virus infection and myasthenia gravis: A pilot study
Wang L, Gao F, Lin G, et al.
Journal of hepatology, 2018, 68, 6, p 1318
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Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy
Lu Y, Zhao D, Yao S, et al.
Journal of the neurological sciences, 2017, 379, p 137
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Childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Zhao Y, Liu X, Zhang W, et al.
Muscle & Nerve, 2017, 56, 6, p 1181
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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
Yu M, Zheng Y, Jin S, et al.
PLoS ONE, 2017, 12, 4
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Targeted sequencing of maternal plasma for haplotype-based noninvasive prenatal testing of spinal muscular atrophy
Chen M, Lu S, Lai Z, et al.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2017, 49, 6, p 799
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"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies
Fu J, Zheng YM, Jin SQ, et al.
Chinese medical journal, 2016, 129, 15, p 1811
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Genotype/phenotype analysis in Chinese laminin-alpha2 deficient congenital muscular dystrophy patients
Xiong H, Tan D, Wang S, et al.
Clinical genetics, 2015, 87, 3, p 233
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The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies
Zheng Y, Li W, Du J, et al.
European journal of radiology, 2015, 84, 10, p 1992
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Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
Zhao J, Wang Z, Hong D, et al.
Journal of the neurological sciences, 2015, 354, 1-2, p 21
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Clinical and muscle imaging findings in 14 mainland Chinese patients with oculopharyngodistal myopathy
Zhao J, Liu J, Xiao J, et al.
PLoS ONE, 2015, 10, 6
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Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population
Shan J, Chen B, Lin P, et al.
Neuromolecular medicine, 2014, 16, 4, p 782
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Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
Charizanis K, Lee KY, Batra R, et al.
Neuron, 2012, 75, 3, p. 437-450
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Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)
Hong D, Zhang W, Wang W, et al.
Journal of clinical neuroscience, 2011, 18, 4, p. 494-499
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