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Nicholas Manton
Researcher at Boston Children's Hospital
Publications - 25
Citations - 515
Nicholas Manton is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Prenatal diagnosis. The author has an hindex of 9, co-authored 18 publications receiving 455 citations. Previous affiliations of Nicholas Manton include South Australia Pathology.
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Journal ArticleDOI
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Vandana Gupta,Gianina Ravenscroft,Ranad Shaheen,Emily J. Todd,Lindsay C. Swanson,Masaaki Shiina,Kazuhiro Ogata,Cynthia P. Hsu,Nigel F. Clarke,Basil T. Darras,Michelle A. Farrar,Amal M. Hashem,Nicholas Manton,Francesco Muntoni,Kathryn N. North,Sarah A. Sandaradura,Ichizo Nishino,Yukiko K. Hayashi,Caroline Sewry,Elizabeth Thompson,Elizabeth Thompson,Kyle S. Yau,Catherine A. Brownstein,Timothy W. Yu,Richard J.N. Allcock,Mark R. Davis,Carina Wallgren-Pettersson,Naomichi Matsumoto,Fowzan S. Alkuraya,Nigel G. Laing,Alan H. Beggs +30 more
TL;DR: These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM.
Journal ArticleDOI
Non-alcoholic steatohepatitis in children and adolescents.
Nicholas Manton,Jill Lipsett,David J. Moore,Geoffrey P. Davidson,Anthony J. Bourne,Richard Couper +5 more
TL;DR: 17 children with non‐alcoholic steatohepatitis had elevated levels of serum liver enzymes and 16 were morbidly obese and at follow‐up, 12 of 14 patients had persistent morbid obesity and 11 had elevated liver enzyme levels.
Journal ArticleDOI
Heterogeneity of fibrosis patterns in non-alcoholic fatty liver disease supports the presence of multiple fibrogenic pathways
Richard Skoien,Richard Skoien,Michelle M. Richardson,Julie R. Jonsson,Elizabeth E. Powell,Elizabeth E. Powell,Elizabeth M. Brunt,Brent A. Neuschwander-Tetri,Prithi S. Bhathal,John Dixon,Paul E. O'Brien,Herbert Tilg,Alexander R. Moschen,Ulrich Baumann,Rachel M. Brown,Richard Couper,Nicholas Manton,Looi C. Ee,Martin Weltman,Andrew D. Clouston,Andrew D. Clouston +20 more
TL;DR: Adult non‐alcoholic fatty liver disease (NAFLD) involves lobular necroinflammatory activity and fibrosis is typically centrilobular, whereas paediatric NAFLD has predominantly portal fibrosis.
Journal ArticleDOI
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
Gianina Ravenscroft,Elizabeth Thompson,Emily J. Todd,Kyle S. Yau,Nina Kresoje,Padma Sivadorai,Kathryn Friend,Kate Riley,Nicholas Manton,Peter C. Blumbergs,Michael Fietz,Rachael M. Duff,Mark R. Davis,Richard J.N. Allcock,Richard J.N. Allcock,Nigel G. Laing,Nigel G. Laing +16 more
TL;DR: This study highlights the power of exome sequencing in genetically heterogeneous diseases and adds multiple pterygium syndrome to the phenotypic spectrum of GBE1 mutation.
Journal ArticleDOI
Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review
Dylan A. Mordaunt,Dylan A. Mordaunt,Alexandra Jolley,Shanti Balasubramaniam,Shanti Balasubramaniam,Shanti Balasubramaniam,David R. Thorburn,David R. Thorburn,Hayley S. Mountford,Hayley S. Mountford,Alison G. Compton,Alison G. Compton,Jillian Nicholl,Nicholas Manton,Damian Clark,Drago Bratkovic,Kathryn Friend,Kathryn Friend,S. Yu +18 more
TL;DR: The phenotypes and genotypes of all 11 patients with TTC19 mutations leading to complex III deficiency (including this case) were reviewed, and consistent features noted are progressive neurodegeneration with Leigh‐like brain MRI abnormalities.