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Auteur Wang Z |
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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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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Ogasawara M, Iida A, Kumutpongpanich T, et al.
Acta neuropathologica communications, 2020, 8, 1, p 204
Revue : Acta neuropathologica communications, 8, 1 Titre : CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations Type de document : Article Auteurs : Ogasawara M ; Iida A ; Kumutpongpanich T ; Ozaki A ; Oya Y ; Konishi H ; Nakamura A ; Abe R ; Takai H ; Hanajima R ; Doi H ; Tanaka F ; Nakamura H ; Nonaka I ; Wang Z ; Hayashi S ; Noguchi S ; Nishino I Année de publication : 25/11/2020 Pages : p 204 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33239111 / DOI : 10.1186/s40478-020-01084-4
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33239111 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis
Xiang Q, Zhang XD, Mu GY, et al.
European journal of clinical pharmacology, 2020
Revue : European journal of clinical pharmacology Titre : Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis Type de document : Article Auteurs : Xiang Q ; Zhang XD ; Mu GY ; Wang Z ; Liu ZY ; Xie QF ; Hu K ; Zhang Z ; Ma LY ; Jiang J ; Cui YM Editeur : Germany Année de publication : 04/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33150478 / DOI : 10.1007/s00228-020-03029-1
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33150478 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
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Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy
Qiu L, Ye Z, Lin L, et al.
Journal of medical genetics, 2020
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Clinical characteristics of patients with anti-EJ antisynthetase syndrome associated interstitial lung disease and literature review
Liu Y, Liu X, Xie M, et al.
Respiratory medicine, 2020, 165
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Therapeutic and Immunoregulatory Effects of Tacrolimus in Patients with Refractory Generalized Myasthenia Gravis
Wu H, Wang Z, Xi J, et al.
European neurology, 2020
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Cells Control BIN1-Mediated Membrane Tubulation by Altering the Membrane Charge
Gowrisankaran S, Wang Z, Morgan DG, et al.
Journal of molecular biology, 2019
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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
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Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
Dai Y, Li P, Wang Z, et al.
Journal of medical genetics, 2019
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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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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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The effectiveness and safety of acupuncture for the treatment of myasthenia gravis: a systematic review and meta-analysis of randomized controlled trials
Zhang X, Ding W, Wang Z, et al.
Annals of palliative medicine, 2019, 8, 5, p 576
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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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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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Effect of free-breathing on left ventricular rotational mechanics in healthy subjects and patients with Duchenne muscular dystrophy
Reyhan ML, Wang Z, Kim HJ, et al.
Magnetic resonance in medicine, 2017, 77, 2, p 864
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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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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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Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
Vasale J, Boyar F, Jocson M, et al.
Neuromuscular disorders : NMD, 2015, 25, 12, p 945
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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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