A citation-based method for searching scientific literature

Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
Times Cited: 28







List of co-cited articles
469 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Rosemary A Head, Ruth M Brown, Zarazuela Zolkipli, Raveen Shahdadpuri, Mary D King, Peter T Clayton, Garry K Brown. Ann Neurol 2005
58
64

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
97
53

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
57
35

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
356
32

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
16
56

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
149
32

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
223
28


GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
234
28

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
111
28


Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
32
28

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
34
28

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd,[...]. Mov Disord 2016
38
28

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
110
28

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
I D Wexler, S G Hemalatha, J McConnell, N R Buist, H H Dahl, S A Berry, S D Cederbaum, M S Patel, D S Kerr. Neurology 1997
155
25

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
K Okajima, L G Korotchkina, C Prasad, T Rupar, J A Phillips, C Ficicioglu, J Hertecant, M S Patel, D S Kerr. Mol Genet Metab 2008
23
30

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Mary C Maj, Neviana MacKay, Valeriy Levandovskiy, Jane Addis, E Regula Baumgartner, Matthias R Baumgartner, Brian H Robinson, Jessie M Cameron. J Clin Endocrinol Metab 2005
43
25

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
J M Cameron, M Maj, V Levandovskiy, C P Barnett, S Blaser, N Mackay, J Raiman, A Feigenbaum, A Schulze, B H Robinson. Hum Genet 2009
20
35


Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Junko Matsuda, Yukiko Ogawa, Seiko Kitamura, Eiko Takada, Yoshihiro Horii, Yasuhiro Kuroda. Biochim Biophys Acta 2002
31
25

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole. Mol Genet Metab 2012
81
25

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Suzanne D DeBrosse, Kazuki Okajima, Shulin Zhang, Ghunwa Nakouzi, Christine L Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S Kerr. Mol Genet Metab 2012
55
25

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Marion Delcourt, Florence Riant, Josette Mancini, Mathieu Milh, Vincent Navarro, Emmanuel Roze, Véronique Humbertclaude, Christian Korff, Vincent Des Portes, Pierre Szepetowski,[...]. J Neurol Neurosurg Psychiatry 2015
50
25

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez, Teresa Rizza, Rosalba Carrozzo, Enrico Bertini, Marcelo Miranda. Eur J Paediatr Neurol 2015
29
25

The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
81
25

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
42
25

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang,[...]. Mov Disord 2018
25
28

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
60
25

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
311
25

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
F-G Debray, M Lambert, R Gagne, B Maranda, R Laframboise, N MacKay, B H Robinson, G A Mitchell. Neuropediatrics 2008
23
26

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
W Lissens, L De Meirleir, S Seneca, I Liebaers, G K Brown, R M Brown, M Ito, E Naito, Y Kuroda, D S Kerr,[...]. Hum Mutat 2000
137
21


Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Peter W Stacpoole, Douglas S Kerr, Carie Barnes, S Terri Bunch, Paul R Carney, Eileen M Fennell, Natalia M Felitsyn, Robin L Gilmore, Melvin Greer, George N Henderson,[...]. Pediatrics 2006
182
21

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski, Holly A Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim,[...]. Neurology 2015
75
21

Paroxysmal movement disorders: An update.
A Méneret, E Roze. Rev Neurol (Paris) 2016
36
21

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
35
21

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu,[...]. Neurol Genet 2016
22
27

Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
35
21

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Yukiko Ogawa, Yasuhiro Kuroda. J Neurol Sci 2002
22
22

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
C Marsac, C Benelli, I Desguerre, M Diry, F Fouque, L De Meirleir, G Ponsot, S Seneca, F Poggi, J M Saudubray,[...]. Hum Genet 1997
39
17

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Marie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, Brian H Robinson, Renée Dumoulin, Sahben Masmoudi, Noman Kadhom, Agnès Rötig, Pierre Rustin, Jean-Paul Bonnefont. Hum Mutat 2005
52
17

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
B Aral, C Benelli, G Ait-Ghezala, M Amessou, F Fouque, C Maunoury, N Créau, P Kamoun, C Marsac. Am J Hum Genet 1997
40
17

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
R A Head, C G E L de Goede, R W N Newton, J H Walter, M A McShane, R M Brown, G K Brown. Dev Med Child Neurol 2004
24
20

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
E Quintana, J A Mayr, M T García Silva, A Font, M A Tortoledo, S Moliner, L Ozaez, M Lluch, A Cabello, J R Ricoy,[...]. J Inherit Metab Dis 2009
16
31

Ketonic diet in the management of pyruvate dehydrogenase deficiency.
R E Falk, S D Cederbaum, J P Blass, G E Gibson, R A Kark, R E Carrel. Pediatrics 1976
92
17

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
A Imbard, A Boutron, C Vequaud, M Zater, P de Lonlay, H Ogier de Baulny, C Barnerias, M Miné, C Marsac, J-M Saudubray,[...]. Mol Genet Metab 2011
53
17

Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
108
17

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
208
17

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
M K Bruno, H-Y Lee, G W J Auburger, A Friedman, J E Nielsen, A E Lang, E Bertini, P Van Bogaert, Y Averyanov, M Hallett,[...]. Neurology 2007
91
17


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.