Zobrazeno 1 - 10
of 213
pro vyhledávání: '"Simon Heales"'
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 124-131 (2024)
Abstract Lysosomal storage disorders (LSDs) are predominantly enzyme deficiencies leading to substrate accumulation, causing progressive damage to multiple organs. To date, a crucial part of diagnosing LSDs is measuring enzymatic activity in leucocyt
Externí odkaz:
https://doaj.org/article/716dfafd6e03427f86bf8a4ecd5b9efa
Autor:
Gurvir S. Virdi, Minee L. Choi, James R. Evans, Zhi Yao, Dilan Athauda, Stephanie Strohbuecker, Raja S. Nirujogi, Anna I. Wernick, Noelia Pelegrina-Hidalgo, Craig Leighton, Rebecca S. Saleeb, Olga Kopach, Haya Alrashidi, Daniela Melandri, Jimena Perez-Lloret, Plamena R. Angelova, Sergiy Sylantyev, Simon Eaton, Simon Heales, Dmitri A. Rusakov, Dario R. Alessi, Tilo Kunath, Mathew H. Horrocks, Andrey Y. Abramov, Rickie Patani, Sonia Gandhi
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-22 (2022)
Abstract Mutations in the SNCA gene cause autosomal dominant Parkinson’s disease (PD), with loss of dopaminergic neurons in the substantia nigra, and aggregation of α-synuclein. The sequence of molecular events that proceed from an SNCA mutation d
Externí odkaz:
https://doaj.org/article/fc1ba7fa6d614cbe962ce2b5a05c4fa6
Autor:
Christina E. Toomey, Wendy E. Heywood, James R. Evans, Joanne Lachica, Sarah N. Pressey, Sandrine C. Foti, Mesfer Al Shahrani, Karishma D’Sa, Iain P. Hargreaves, Simon Heales, Michael Orford, Claire Troakes, Johannes Attems, Ellen Gelpi, Miklos Palkovits, Tammaryn Lashley, Steve M. Gentleman, Tamas Revesz, Kevin Mills, Sonia Gandhi
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-25 (2022)
Abstract Background The molecular drivers of early sporadic Parkinson’s disease (PD) remain unclear, and the presence of widespread end stage pathology in late disease masks the distinction between primary or causal disease-specific events and late
Externí odkaz:
https://doaj.org/article/27e299286de341708a34798f4633c659
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 72-78 (2020)
Abstract Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders inclu
Externí odkaz:
https://doaj.org/article/40819502109f4c43b2d2daca7948cb90
Autor:
Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 8 (2023)
The commentary provided by Maase et al. [...]
Externí odkaz:
https://doaj.org/article/a36723cd58264998bac2ee2078070595
Autor:
Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 40-43 (2019)
Abstract Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of
Externí odkaz:
https://doaj.org/article/d63845f6ecd14928a17ec77c31c2009f
Autor:
Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 25 (2022)
Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which dis
Externí odkaz:
https://doaj.org/article/db98af22eefe43c787d56700ed2973ef
Autor:
Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 20 (2022)
Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce
Externí odkaz:
https://doaj.org/article/0c374f26e09b4d3dbe636480edd60bd3