Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
Abstract Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog
Externí odkaz:
https://doaj.org/article/3037ab4905b242568f51ef06d52f0962
Autor:
Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Abstract Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is
Externí odkaz:
https://doaj.org/article/9a324a5ce8934bbc85b57f18d8559bdd
Autor:
Paul J. Lockhart, Haloom Rafehi, Mathew Wallis, Martin B. Delatycki, Susan M. White, David J. Szmulewicz, John Christodoulou, Kate Pope, Melanie Bahlo
Publikováno v:
Movement Disorders. 35:1675-1679
BACKGROUND Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole-genome sequencing (WGS) feasible. OBJECTIVES The objective of this study wa
Autor:
Sarah E.M. Stephenson, Greta Gillies, Kate Pope, Simone Mandelstam, AS Harvey, Paul J. Lockhart, Alison Wray, Katherine B. Howell, Wei Shern Lee, Samuel F. Berkovic, William Maixner, Ingrid E. Scheffer, Richard J. Leventer, Duncan MacGregor
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothes
Autor:
Yujing Gao, Sarah E.M. Stephenson, Kiymet Bozaoglu, Paul J. Lockhart, Gabrielle R. Wilson, Matthew J. Farrer
Publikováno v:
Movement Disorders. 33:196-207
The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parkinson's disease (PD) has highlighted the emerging role of protein trafficking in disease pathogenesis. Ras analog in brai
Autor:
Melanie Bahlo, Martin B. Delatycki, David J. Amor, Miriam H. Meisler, Sarah E.M. Stephenson, Richard J. Leventer, Peter Diakumis, Catriona McLean, Chloe A Stutterd, Chung Wo Chow, Paul J. Lockhart, Miriam Fanjul Fernandez
Publikováno v:
Annals of Clinical and Translational Neurology. 4:859-864
Objective To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. Methods Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early c
Autor:
George McGillivray, Sarah E.M. Stephenson, Tiong Yang Tan, Kate Pope, Zornitza Stark, Ashley P L Marsh, Amber Boys, Belinda Chong, Patrick Yap, Susan M. White, Paul J. Lockhart, Richard J. Leventer
Publikováno v:
American Journal of Medical Genetics Part A. 173:820-823
Autor:
Geneieve Tai, Susan Perlman, Martin B. Delatycki, Michael H Parkinson, Alexandra Durr, Marguerite V. Evans-Galea, Françoise Pousset, Paola Giunti, Lyle C. Gurrin, Robyn Labrum, Sarah Gelbard, Charles A. Galea, Eppie M. Yiu, David A. Lynch, Aamira Huq, Louise A. Corben, Paul J. Lockhart
Publikováno v:
Annals of Neurology. 79:485-495
Objective Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxi
Autor:
Greta Gillies, Melanie Bahlo, Hanna van Roozendaal, William Maixner, Joe Chou Hung Sim, Julian Ik-Tsen Heng, Simone Mandelstam, Richard J. Leventer, Kate Pope, Paul J. Lockhart, Lakshminarayanan Kannan, Duncan MacGregor, Jessica R. Riseley, Miriam Fanjul-Fernández, Peter B. Crino, Martin B. Delatycki, Thomas S. Scerri, David J. Amor, George McGillivray, Simon Harvey
Publikováno v:
Annals of Neurology. 79:132-137
We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen p
Autor:
Sarah E.M. Stephenson, Louise A. Corben, Marguerite V. Evans-Galea, Paul J. Lockhart, Katrina J. Allen, Lyle C. Gurrin, Eppie M. Yiu, Martin B. Delatycki, David A. Lynch, Geneieve Tai
Publikováno v:
Movement Disorders. 29:940-943
BACKGROUND: Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in indiv