Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Paul J. Lockhart"'
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Autor:
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Publikováno v:
Brain
Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene disrupted in the reeler mouse, a classic neurological mutant exhibiting ataxia, tremors and a
Autor:
Richard J. Leventer, Ingrid E. Scheffer, John Christodoulou, Tiffany Boughtwood, Hareth Al-Janabi, Paul J. Lockhart, Catherine Quinlan, You Wu, Katherine B. Howell, Zornitza Stark, Andrew Mallett, Ilias Goranitis
Publikováno v:
Quality of Life Research. 29:2445-2454
The complexity and severity of rare genetic conditions pose substantial burden to families. While the importance of spillovers on carers’ health in resource allocation decisions is increasingly recognised, there is significant lack of empirical evi
Autor:
Marjon van Slegtenhorst, Dean Phelan, Jan D. H. Jongbloed, Christine E. Seidman, Johanna C. Herkert, Francisco Fernández-Avilés, Chloe A Stutterd, Amy E. Roberts, Radhika Agarwal, Paul J. Lockhart, Mary Ella M Pierpont, Ingrid M.B.H. van de Laar, Irene M. van Langen, Ludolf G. Boven, Yolande van Bever, Raquel Yotti, Michael A. Burke, Jonathan G. Seidman, Paul A. James, Judith M.A. Verhagen, Kai'En E. Leong, David J. Amor, Elizabeth A. Braunlin, Ahmet Okay Ḉağlayan, Alireza Haghighi, Neal K. Lakdawala, Lennie van Osch-Gevers, Marian Bulthuis, Ivan Macciocca, Daniela Q.C.M. Barge-Schaapveld, Natasha J Brown, Erwin Birnie
Publikováno v:
American Heart Journal, 225, 108-119. MOSBY-ELSEVIER
American Heart Journal, 225, 108-119. Mosby Inc.
American Heart Journal, 225, 108-119. Mosby Inc.
Introduction: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods and Results: We analyzed clinical manifestations of damaging bialleli
Autor:
Paul J. Lockhart, David J. Amor, Vesna Lukic, Paul J Gow, Miriam Fanjul, Martin B. Delatycki, Edward D Janus, Alexa Kidd, Teddy Y. Wu, Melanie Bahlo, John S. Archer, Chloe A Stutterd, Marjo S van der Knaap, Anthony Raizis, Christopher M. Florkowski, Richard J. Leventer
Publikováno v:
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495c164921dd63aeb844a7ac497a18be
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
Autor:
Paul J. Lockhart, Cherie C Green, Krysta J Trevis, Tarishi Desai, Martin B. Delatycki, Natasha J Brown, Sarah J. Wilson, Emmanuel Peng Kiat Pua, Melanie Bahlo, Ingrid E. Scheffer, Vicki Anderson, Tanya Vick
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 7965, p 7965 (2020)
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 7965, p 7965 (2020)
Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the &ldquo
Broader Autism Phenotype&rdquo
(BAP) in large multiplex ASD families usi
Broader Autism Phenotype&rdquo
(BAP) in large multiplex ASD families usi
Autor:
Maria, Gisatulin, Valerija, Dobricic, Christine, Zühlke, Yorck, Hellenbroich, Vera, Tadic, Alexander, Münchau, Klaus, Isenhardt, Katrin, Bürk, Melanie, Bahlo, Paul J, Lockhart, Katja, Lohmann, Christoph, Helmchen, Norbert, Brüggemann
Publikováno v:
Neurology. 95(21)
To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (In this case-control study, we included 457 individuals comprising 26 patients with complete or inco
Autor:
Emmanuelle Lacaze, Gail Robinson, Jacquelyn L. Knight, Christel Depienne, Delphine Héron, Richard J. Leventer, Paul J. Lockhart, Megan Spencer-Smith, Linda J. Richards
Publikováno v:
developmental medecine and child neurology
developmental medecine and child neurology, 2020, 62 (6), pp.758-762. ⟨10.1111/dmcn.14486⟩
developmental medecine and child neurology, 2020, 62 (6), pp.758-762. ⟨10.1111/dmcn.14486⟩
Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad9a73377b008f9cbe25fe13f6bcf94
https://hdl.handle.net/11343/275413
https://hdl.handle.net/11343/275413
Autor:
Michele G. Mehaffey, Mei-Feng Wu, Edith P. Almanza Fuerte, Laura A. Jansen, Ingrid E. Scheffer, Wen-Hung Chung, Michael S. Hildebrand, Meng-Han Tsai, Paul J. Lockhart, Richard J. Leventer, Wen-Lang Fan, Heather C Mefford, Ying-Chao Chang, Chung-Kin Chan, Nian-Hsin Chao, Alison M. Muir, William B. Dobyns, Shih-Chi Su, Kheng Seang Lim, Guillaume Sébire, Nicolas Deconinck, Won Jing Wang, Ching Ching Ng, Kate Riney, Kun-Chuan Yang, Samuel F. Berkovic, Jin Wu Tsai, John A. Damiano, Yi-Ning Kang, Brenda E. Porter, Ghayda M. Mirzaa
Publikováno v:
Neuron
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predomin
Autor:
Jamie Sleigh, David J. Amor, Paul J. Lockhart, Kate Leslie, Peter Diakumis, Andrew Davidson, Melanie Bahlo, Vesna Lukic
Publikováno v:
Anesthesiology. 131(5)
Editor’s Perspective What We Already Know about This Topic What This Article Tells Us That Is New Background Intraoperative awareness with recall while under apparently adequate general anesthesia is a rare, unexplained, and often very distressing
Autor:
Sarah E.M. Stephenson, Ruth Djaldetti, Paul J. Lockhart, Melanie Bahlo, Greta Gillies, Haloom Rafehi, Gabrielle R. Wilson
Publikováno v:
Parkinsonismrelated disorders. 64
Background Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date, 30 individuals harbouring 20 unique causative variants have been described. Understanding of the spectrum of clinical f