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1.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen, Nicole J; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S; Pyle, Angela; Conrotte, Jean-François; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Júlia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P; Shukla, Anju; Girisha, Katta M; Lewis, Leslie E S; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovacs-Nagy, Reka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R; Prokisch, Holger; Taylor, Robert W; Christodoulou, John; Linster, Carole L; Ellard, Sian; Hakonarson, Hakon.

Brain; 142(1): 50-58, 2019 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-30576410

2.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Lake, Nicole J; Formosa, Luke E; Stroud, David A; Ryan, Michael T; Calvo, Sarah E; Mootha, Vamsi K; Morar, Bharti; Procopis, Peter G; Christodoulou, John; Compton, Alison G; Thorburn, David R.

Hum Mutat; 40(7): 893-898, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-30981218

3.

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; Linnankivi, Tarja; Petersen, Michael B; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J; Pal, Deb K; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D; Sisodiya, Sanjay M; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Bürki, Sarah E; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Brünger, Tobias; Zara, Federico; Striano, Pasquale; Rubboli, Guido; Møller, Rikke S.

Epilepsia; 60(5): 830-844, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30968951

4.

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim, Sze Chern; Smith, Katherine R; Stroud, David A; Compton, Alison G; Tucker, Elena J; Dasvarma, Ayan; Gandolfo, Luke C; Marum, Justine E; McKenzie, Matthew; Peters, Heidi L; Mowat, David; Procopis, Peter G; Wilcken, Bridget; Christodoulou, John; Brown, Garry K; Ryan, Michael T; Bahlo, Melanie; Thorburn, David R.

Am J Hum Genet; 94(2): 209-22, 2014 Feb 06.

Artículo en Inglés | MEDLINE | ID: mdl-24462369

5.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker, Peter R; Friederich, Marisa W; Swanson, Michael A; Shaikh, Tamim; Bhattacharya, Kaustuv; Scharer, Gunter H; Aicher, Joseph; Creadon-Swindell, Geralyn; Geiger, Elizabeth; MacLean, Kenneth N; Lee, Wang-Tso; Deshpande, Charu; Freckmann, Mary-Louise; Shih, Ling-Yu; Wasserstein, Melissa; Rasmussen, Malene B; Lund, Allan M; Procopis, Peter; Cameron, Jessie M; Robinson, Brian H; Brown, Garry K; Brown, Ruth M; Compton, Alison G; Dieckmann, Carol L; Collard, Renata; Coughlin, Curtis R; Spector, Elaine; Wempe, Michael F; Van Hove, Johan L K.

Brain; 137(Pt 2): 366-79, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24334290

6.

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Williams, Laura J; Waller, Sophie; Qiu, Jessica; Innes, Emily; Elserafy, Noha; Procopis, Peter; Sampaio, Hugo; Mahant, Neil; Tchan, Michel C; Mohammad, Shekeeb S; Morales-Briceño, Hugo; Fung, Victor S C.

Mov Disord Clin Pract; 11(1): 76-85, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38291835

7.

Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies.

Suleiman, Jehan; Wright, Sukhvir; Gill, Deepak; Brilot, Fabienne; Waters, Patrick; Peacock, Ken; Procopis, Peter; Nibber, Anjan; Vincent, Angela; Dale, Russell C; Lang, Bethan.

Epilepsia; 54(12): 2091-100, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24151870

8.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran, Bindu Parayil; Gupta, Sachin; Tchan, Michel; Devanapalli, Beena; Rahman, Yusof; Procopis, Peter; Bhattacharya, Kaustuv.

Orphanet J Rare Dis; 16(1): 465, 2021 11 03.

Artículo en Inglés | MEDLINE | ID: mdl-34732213

9.

Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Misra, Shibalik; Peters, Greg; Barnes, Elizabeth; Ardern-Holmes, Simone; Webster, Richard; Troedson, Christopher; Mohammad, Shekeeb S; Gill, Deepak; Menezes, Manoj; Gupta, Sachin; Procopis, Peter; Antony, Jayne; Kurian, Manju A; Dale, Russell C.

Neurol Genet; 5(6): e367, 2019 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31872051

10.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur, Kavitha; Holman, Katherine; Farnsworth, Elizabeth; Ho, Gladys; Lorentzos, Michelle; Troedson, Christopher; Gupta, Sachin; Webster, Richard; Procopis, Peter G; Menezes, Manoj P; Antony, Jayne; Ardern-Holmes, Simone; Dale, Russell C; Christodoulou, John; Gill, Deepak; Bennetts, Bruce.

Seizure; 59: 132-140, 2018 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-29852413

11.

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

Chiong, Mary Anne; Procopis, Peter; Carpenter, Kevin; Wilcken, Bridget.

Pediatr Neurol; 37(4): 283-6, 2007 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-17903674

12.

Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis.

Ka, Amy; Britton, Philip; Troedson, Christopher; Webster, Richard; Procopis, Peter; Ging, Joanne; Chua, Yew Wee; Buckmaster, Adam; Wood, Nicholas; Jones, Cheryl; Dale, Russell C.

Eur J Paediatr Neurol; 19(3): 377-82, 2015 May.

Artículo en Inglés | MEDLINE | ID: mdl-25707871

13.

Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome.

Pillai, Sekhar C; Hacohen, Yael; Tantsis, Esther; Prelog, Kristina; Merheb, Vera; Kesson, Alison; Barnes, Elizabeth; Gill, Deepak; Webster, Richard; Menezes, Manoj; Ardern-Holmes, Simone; Gupta, Sachin; Procopis, Peter; Troedson, Christopher; Antony, Jayne; Ouvrier, Robert A; Polfrit, Yann; Davies, Nicholas W S; Waters, Patrick; Lang, Bethan; Lim, Ming J; Brilot, Fabienne; Vincent, Angela; Dale, Russell C.

Pediatrics; 135(4): e974-84, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25802349

14.

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton, Alison G; Troedson, Christopher; Wilson, Meredith; Procopis, Peter G; Li, Fang-Yuan; Brundage, Ellen K; Yamazaki, Taro; Thorburn, David R; Wong, Lee-Jun C.

Mitochondrion; 11(1): 104-7, 2011 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-20708716

15.

Evidence-based medicine.

Procopis, Peter G.

Dev Med Child Neurol; 44(7): 435, 2002 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-12162380

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