Publications by authors named "Peter Procopis"

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DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Laura J Williams, Sophie Waller, Jessica Qiu, Emily Innes, Noha Elserafy, Peter Procopis

Mov Disord Clin Pract· January 2024

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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis

Orphanet J Rare Dis· November 2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique R M Vlaskamp, Birgitte Bertelsen, Peter Procopis

Genet Med· February 2021

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Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Shibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Peter Procopis

Neurol Genet· December 2019

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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Nicole J Lake, Luke E Formosa, David A Stroud, Michael T Ryan, Sarah E Calvo, Peter G Procopis

Hum Mutat· July 2019

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The spectrum of intermediate SCN8A-related epilepsy.
Katrine M Johannesen, Elena Gardella, Alejandra C Encinas, Anna-Elina Lehesjoki, Tarja Linnankivi, Peter Procopis

Epilepsia· May 2019

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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Nicole J Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker-Kettern, Peter Procopis

Brain· January 2019

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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kavitha Kothur, Katherine Holman, Elizabeth Farnsworth, Gladys Ho, Michelle Lorentzos, Peter G Procopis

Seizure· July 2018

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Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis.
Amy Ka, Philip Britton, Christopher Troedson, Richard Webster, Peter Procopis

Eur J Paediatr Neurol· May 2015

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Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome.
Sekhar C Pillai, Yael Hacohen, Esther Tantsis, Kristina Prelog, Vera Merheb, Peter Procopis

Pediatrics· April 2015

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya, Peter Procopis

Brain· February 2014

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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Peter G Procopis

Am J Hum Genet· February 2014

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Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies.
Jehan Suleiman, Sukhvir Wright, Deepak Gill, Fabienne Brilot, Patrick Waters, Peter Procopis

Epilepsia· December 2013

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Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Alison G Compton, Christopher Troedson, Meredith Wilson, Peter G Procopis, Fang-Yuan Li

Mitochondrion· January 2011

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Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.
Mary Anne Chiong, Peter Procopis, Kevin Carpenter, Bridget Wilcken

Pediatr Neurol· October 2007

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Evidence-based medicine.
Peter G Procopis

Dev Med Child Neurol· July 2002

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