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Author/Creator Lockhart, Paul J.

1. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Issue 5 (26th April 2017)

Authors:
Walsh, Maie; Bell, Katrina M.; Chong, Belinda; Creed, Emma; Brett, Gemma R.; Pope, Kate; Thorne, Natalie P.; Sadedin, Simon; Georgeson, Peter; Phelan, Dean G.; Day, Timothy; Taylor, Jessica A.; Sexton, Adrienne; Lockhart, Paul J.; Kiers, Lynette; Fahey, Michael; Macciocca, Ivan; Gaff, Clara L.; O...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 4:Issue 5(2017)
Page Start:
318
Record Type:
Journal Article
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3. Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Issue 7 (17th June 2019)

Authors:
Lee, Wei Shern; Stephenson, Sarah E. M.; Howell, Katherine B.; Pope, Kate; Gillies, Greta; Wray, Alison; Maixner, Wirginia; Mandelstam, Simone A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; MacGregor, Duncan; Harvey, Anthony Simon; Lockhart, Paul J.; Leventer, Richard J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 7(2019)
Page Start:
1338
Record Type:
Journal Article
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4. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019)

Authors:
Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John...
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
619
Record Type:
Journal Article
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5. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Issue 1 (12th December 2015)

Authors:
Sim, Joe C.; Scerri, Thomas; Fanjul‐Fernández, Miriam; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; van Roozendaal, Hanna; Heng, Julian I.; Mandelstam, Simone A.; McGillivray, George; MacGregor, Duncan; Kannan, Lakshminarayanan; Maixner, Wirginia; Harvey, A. Simon; Amor, David J.; Delatycki, ...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 1(2016:Jan.)
Page Start:
132
Record Type:
Journal Article
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6. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. Issue 10 (4th June 2021)

Authors:
Stutterd, Chloe A.; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y.; Archer, John; Leventer, Richard J.; Amor, David J.; Lukic, Vesna; Bahlo, Melanie; Gow, Paul; Lockhart, Paul J.; van der Knaap, Marjo S.; Delatycki, Martin B.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 10(2021)
Page Start:
2941
Record Type:
Journal Article
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7. Clinical seizure manifestations in the absence of synaptic connections. Issue 1 (30th March 2021)

Authors:
Macdonald‐Laurs, Emma; Bailey, Catherine A.; Barton, Sarah; Yang, Joseph Yuan‐Mou; Mandelstam, Simone; Macgregor, Duncan; Lockhart, Paul J.; Leventer, Richard J.; Maixner, Wirginia J.; Harvey, A. Simon
Journal:
Epileptic disorders
Issue:
Volume 23:Issue 1(2021)
Page Start:
167
Record Type:
Journal Article
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