H
Haiyan Zhou
Researcher at University College London
Publications - 58
Citations - 2580
Haiyan Zhou is an academic researcher from University College London. The author has contributed to research in topics: Spinal muscular atrophy & RYR1. The author has an hindex of 27, co-authored 47 publications receiving 2235 citations. Previous affiliations of Haiyan Zhou include UCL Institute of Child Health & Russian Academy of Sciences.
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Journal ArticleDOI
RYR1 mutations are a common cause of congenital myopathies with central nuclei
Jo M. Wilmshurst,S. Lillis,Haiyan Zhou,Komala Pillay,Howard E. Henderson,Wolfram Kress,Clemens R. Müller,Alvin Ndondo,V cloke,Thomas Cullup,Enrico Bertini,CG Boennemann,Volker Straub,Ros Quinlivan,James J. Dowling,Safa Al-Sarraj,Susan Treves,Stephen Abbs,Adnan Y. Manzur,Caroline Sewry,Francesco Muntoni,Heinz Jungbluth +21 more
TL;DR: This work investigated whether RYR1 mutations cause CNM, a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy that has been associated with mutations in MTM1, DNM2, and BIN1.
Journal ArticleDOI
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Haiyan Zhou,Heinz Jungbluth,Caroline Sewry,Lucy Feng,Enrico Bertini,Kate Bushby,Volker Straub,Helen Roper,Michael R. Rose,Martin Brockington,Maria Kinali,Adnan Y. Manzur,Stephanie Robb,Richard Appleton,Sonia Messina,Adele D'Amico,Ros Quinlivan,Michael Swash,Clemens R. Müller,Susan C. Brown,Susan Treves,Francesco Muntoni +21 more
TL;DR: The data represent the most extensive study of RYR1-related myopathies and indicate complex genotype-phenotype correlations associated with mutations differentially affecting assembly and function of the RyR1 calcium release channel.
Journal ArticleDOI
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
Suzan M. Hammond,G Hazell,Fazel Shabanpoor,Amer F. Saleh,Melissa Bowerman,James N. Sleigh,Katharina E. Meijboom,Haiyan Zhou,Francesco Muntoni,Kevin Talbot,Michael J. Gait,Matthew J.A. Wood +11 more
TL;DR: An advanced peptide-oligonucleotide, Pip6a-morpholino phosphorodiamidate oligomer (PMO), which demonstrates potent efficacy in both the CNS and peripheral tissues in severe SMA mice following systemic administration following a systemic route with peptide delivery.
Journal ArticleDOI
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies
Andrea Klein,S. Lillis,Iulia Munteanu,Mariacristina Scoto,Haiyan Zhou,Ros Quinlivan,Volker Straub,Adnan Y. Manzur,Helen Roper,Pierre-Yves Jeannet,Wojtek Rakowicz,David P.H. Jones,Uffe Birk Jensen,Elizabeth Wraige,Natalie Trump,Ulrike Schara,Hanns Lochmüller,Anna Sarkozy,Helen Kingston,Fiona Norwood,Maxwell S. Damian,Janbernd Kirschner,Cheryl Longman,Mark Roberts,Michaela Auer-Grumbach,Imelda Hughes,Kate Bushby,Caroline Sewry,Stephanie Robb,Stephen Abbs,Heinz Jungbluth,Heinz Jungbluth,Francesco Muntoni +32 more
TL;DR: A large number of novel RYR1 mutations are reported and indicates that recessive variants are at least as frequent as the dominant ones, and that patients with recessive inheritance had earlier onset, more weakness, and functional limitations.
Journal ArticleDOI
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment
S. Arbogast,Maud Beuvin,Maud Beuvin,Bodvael Fraysse,Bodvael Fraysse,Haiyan Zhou,Francesco Muntoni,Ana Ferreiro +7 more
TL;DR: The role of SelN and the pathophysiology of SEPN1‐RM are clarified and therapeutic targets are identified to identify therapeutic targets.