Xiong H - Search Results

1

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.

Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Darras BT, et al. Among authors: xiong h. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287

2

[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].

DU J, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F. DU J, et al. Among authors: xiong h. Zhonghua Er Ke Za Zhi. 2011 Jun;49(6):411-5. Zhonghua Er Ke Za Zhi. 2011. PMID: 21924051 Chinese.

3

[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].

Wei CJ, Wang D, Wang S, Jiao H, Hong DJ, Pu LH, Xiong H. Wei CJ, et al. Among authors: xiong h. Zhonghua Er Ke Za Zhi. 2013 Jan;51(1):47-51. Zhonghua Er Ke Za Zhi. 2013. PMID: 23527931 Chinese.

4

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Fu X, Liu A, Yang H, Wei C, Ding J, Wang S, Wang J, Yuan Y, Jiang Y, Xiong H. Fu X, et al. Among authors: xiong h. Zhonghua Er Ke Za Zhi. 2015 Oct;53(10):741-6. Zhonghua Er Ke Za Zhi. 2015. PMID: 26758109 Chinese.

5

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Fu X, Yang H, Wei C, Jiao H, Wang S, Yang Y, Han C, Wu X, Xiong H. Fu X, et al. Among authors: xiong h. J Hum Genet. 2016 Dec;61(12):1013-1020. doi: 10.1038/jhg.2016.94. Epub 2016 Jul 21. J Hum Genet. 2016. PMID: 27439679

6

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.

Wei CJ, Chang XZ, Ge L, Fu XN, Fan YB, Liu JY, Wang S, Li HL, Yang YL, Xiong H. Wei CJ, et al. Among authors: xiong h. Chin Med J (Engl). 2020 Jun 5;133(11):1358-1360. doi: 10.1097/CM9.0000000000000805. Chin Med J (Engl). 2020. PMID: 32515919 Free PMC article. No abstract available.

7

Risdiplam in Type 1 Spinal Muscular Atrophy.

Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, Fontoura P, Servais L; FIREFISH Working Group. Baranello G, et al. N Engl J Med. 2021 Mar 11;384(10):915-923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24. N Engl J Med. 2021. PMID: 33626251 Clinical Trial.

8

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: xiong h. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.

9

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136

10

Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.

Zhang C, Wei CJ, Jin Z, Ma J, Shen YE, Yu Q, Fan YB, Xiong H, Que CL. Zhang C, et al. Among authors: xiong h. Int J Neurosci. 2023 Dec;133(9):1045-1054. doi: 10.1080/00207454.2022.2042691. Epub 2022 Mar 15. Int J Neurosci. 2023. PMID: 35289716

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