A citation-based method for searching scientific literature

Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos. J Neurol 2017
Times Cited: 29







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



Times Cited
  Times     Co-cited
Similarity


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
37
82

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Heidi Peters, Nicole Buck, Ronald Wanders, Jos Ruiter, Hans Waterham, Janet Koster, Joy Yaplito-Lee, Sacha Ferdinandusse, James Pitt. Brain 2014
73
55

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Tobias B Haack, Christopher B Jackson, Kei Murayama, Laura S Kremer, André Schaller, Urania Kotzaeridou, Maaike C de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner,[...]. Ann Clin Transl Neurol 2015
59
51

Clinical and biochemical characterization of four patients with mutations in ECHS1.
Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, Jos P N Ruiter, Curtis R Coughlin, Megan K Dishop, Renata C Gallagher, Jirair K Bedoyan, Frédéric M Vaz, Hans R Waterham,[...]. Orphanet J Rare Dis 2015
47
48

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Martine Tetreault, Somayyeh Fahiminiya, Hana Antonicka, Grant A Mitchell, Michael T Geraghty, Matthew Lines, Kym M Boycott, Eric A Shoubridge, John J Mitchell, Jacques L Michaud,[...]. Hum Genet 2015
40
44

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Rhona M Jack, Alexander Miron, George Grahame, Suzanne D DeBrosse, Charles L Hoppel, Douglas S Kerr, Ronald J A Wanders. Mol Genet Metab 2017
22
59

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh,[...]. Am J Med Genet A 2018
22
54

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Yuji Nakamura, Daisuke Fukushi, Kei Murayama, Yoshiharu Shimomura, James Pitt,[...]. J Med Genet 2015
45
37

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Rebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, Andrew Edmondson, Matthew A Deardorff, Michael J Bennett, Can Ficicioglu. JIMD Rep 2016
19
57

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
Chika Sakai, Seiji Yamaguchi, Masayuki Sasaki, Yusaku Miyamoto, Yuichi Matsushima, Yu-ichi Goto. Hum Mutat 2015
40
37

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.
F Al Mutairi, H E Shamseldin, M Alfadhel, R J Rodenburg, F S Alkuraya. Clin Genet 2017
20
55

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
37

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
143
37

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
78
37

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Pratibha Nair, Abdul Rezzak Hamzeh, Madiha Mohamed, Ethar Mustafa Malik, Mahmoud Taleb Al-Ali, Fatma Bastaki. Metab Brain Dis 2016
14
71

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
Irene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, Frédéric M Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The. JIMD Rep 2018
16
62

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
16
62

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
106
34


Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik,[...]. J Inherit Metab Dis 2017
16
62

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Heidi Peters, Sacha Ferdinandusse, Jos P Ruiter, Ronald J A Wanders, Avihu Boneh, James Pitt. Mol Genet Metab 2015
41
31

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
354
31

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
40
31

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
219
31

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
22
40

Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
106
31


Paroxysmal movement disorders: An update.
A Méneret, E Roze. Rev Neurol (Paris) 2016
36
27

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
207
27

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
31
27

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
55
27

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
28
28

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
56
27

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
59
27

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen,[...]. Brain 2011
201
27

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
308
27

Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
34
27

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
47
24

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
233
24

Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
43
24

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
232
24

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
M K Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, D R Lynch, K D Mathews, K J Swoboda, J Harris,[...]. Neurology 2004
247
24

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
24

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki,[...]. J Inherit Metab Dis 2017
55
24

CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang. Seizure 2018
13
53

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.
Ronald J A Wanders, Marinus Duran, Ference J Loupatty. J Inherit Metab Dis 2012
51
20

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Sacha Ferdinandusse, Hans R Waterham, Simon J R Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald J A Wanders, Peter T Clayton,[...]. Orphanet J Rare Dis 2013
50
20

Secondary paroxysmal dyskinesias.
Jaishri Blakeley, Joseph Jankovic. Mov Disord 2002
90
20

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir,[...]. Am J Hum Genet 2012
177
20

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
381
20


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.