ResearcherID.com
ResearcherID Thomson Reuters  

Lockhart, Paul J
Create a ResearcherID badge for this researcher View publications analytics for this researcher
Close
ResearcherID: E-7753-2011
URL: http://www.researcherid.com/rid/E-7753-2011
Subject: Genetics & Heredity; Neurosciences & Neurology
ORCID: http://orcid.org/0000-0003-2531-8413
My Institutions (more details)
Primary Institution:
Sub-org/Dept:
Role:
Joint Affiliation:
Sub-org/Dept:
Role:
 
 

This list contains papers that I have authored.

publication(s)  
First Page Previous Page Page   of  9  Go Next Page Last Page
  Sort by:    Results per page: 
1. Title: Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Author(s): Wan, J.; Steffen, J.; Yourshaw, M.; et al.
Source: Brain Published: 2016
DOI: 10.1093/brain/aww212 / Author-provided URL : http://www.ncbi.nlm.nih.gov/pubmed/27543974
added
12-Sep-16
2. Title: Rasmussen encephalitis tissue transfer program
Author(s): Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; et al.
Source: Epilepsia Volume: 57 Issue: 6 Pages: 1004-1006 Published: JUN 2016
Times Cited: 1
DOI: 10.1111/epi.13383
added
12-Sep-16
3. Title: Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
Author(s): Rivera, Barbara; Gayden, Tenzin; Carrot-Zhang, Jian; et al.
Source: Acta Neuropathologica Volume: 131 Issue: 6 Pages: 847-863 Published: JUN 2016
Times Cited: 5
DOI: 10.1007/s00401-016-1549-x
added
13-Jun-16
4. Title: ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
Author(s): Phelan, D. G.; Anderson, D. J.; Howden, S. E.; et al.
Source: Eur Heart J Published: 2016
DOI: 10.1093/eurheartj/ehw160 / Author-provided URL : http://www.ncbi.nlm.nih.gov/pubmed/27106955
added
30-Apr-16
5. Title: Compound Heterozygous FXN Mutations and Clinical Outcome in Friedreich Ataxia
Author(s): Galea, Charles A.; Huq, Aamira; Lockhart, Paul J.; et al.
Source: Annals of Neurology Volume: 79 Issue: 3 Pages: 485-495 Published: MAR 2016
Times Cited: 4
DOI: 10.1002/ana.24595
added
12-Apr-16
6. Title: Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3
Author(s): Sim, Joe C.; Scerri, Thomas; Fanjul-Fernandez, Miriam; et al.
Source: Annals of Neurology Volume: 79 Issue: 1 Pages: 132-137 Published: JAN 2016
Times Cited: 9
DOI: 10.1002/ana.24502
added
12-Apr-16
7. Title: Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
Author(s): Leventer, Richard J.; Scerri, Thomas; Marsh, Ashley P. L.; et al.
Source: Neurology Volume: 84 Issue: 20 Pages: 2029-2032 Published: MAY 19 2015
Times Cited: 11
added
12-Apr-16
8. Title: Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Author(s): Marsh, A. P.; Lukic, V.; Pope, K.; et al.
Source: Neurology Genetics Volume: 1 Pages: e16-e22 Published: 2015
DOI: OI 10.1212/NXG.0000000000000014
added
06-Dec-15
9. Title: Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology
Author(s): Wilson, Gabrielle R.; Sim, Joe C. H.; McLean, Catriona; et al.
Source: American Journal of Human Genetics Volume: 95 Issue: 6 Pages: 729-735 Published: DEC 4 2014
Times Cited: 31
DOI: 10.1016/j.ajhg.2014.10.015
added
06-Dec-15
10. Title: ARID1B-mediated disorders: Mutations and possible mechanisms.
Author(s): Sim, Joe C H; White, Susan M; Lockhart, Paul J
Source: Intractable & rare diseases research Volume: 4 Issue: 1 Pages: 17-23 Published: 2015-Feb
DOI: 10.5582/irdr.2014.01021
added
14-Jun-15
publication(s)  
First Page Previous Page Page   of  9  Go Next Page Last Page
  Sort by:    Results per page: