A citation-based method for searching scientific literature

Josef Finsterer. Pediatr Neurol 2020
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


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
50

Guillain-Barré syndrome.
Richard A C Hughes, David R Cornblath. Lancet 2005
921
50

Leigh and Leigh-like syndrome in children and adults.
Josef Finsterer. Pediatr Neurol 2008
224
50

A multicenter study on Leigh syndrome: disease course and predictors of survival.
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist,[...]. Orphanet J Rare Dis 2014
101
50

Ketogenic diets: from cancer to mitochondrial diseases and beyond.
Ana F Branco, André Ferreira, Rui F Simões, Sílvia Magalhães-Novais, Cheryl Zehowski, Elisabeth Cope, Ana Marta Silva, Daniela Pereira, Vilma A Sardão, Teresa Cunha-Oliveira. Eur J Clin Invest 2016
72
50

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
H Endo, K Hasegawa, K Narisawa, K Tada, Y Kagawa, S Ohta. Am J Hum Genet 1989
69
50

Ketogenic Diet and Epilepsy.
Marzena Ułamek-Kozioł, Stanisław J Czuczwar, Sławomir Januszewski, Ryszard Pluta. Nutrients 2019
27
50

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study.
Kazuhiro Haginoya, Shigeaki Miyabayashi, Masahiro Kikuchi, Akira Kojima, Katsuya Yamamoto, Kiyoshi Omura, Mitsugu Uematsu, Naomi Hino-Fukuyo, Soichiro Tanaka, Shigeru Tsuchiya. J Neurol Sci 2009
25
50


A guide to diagnosis and treatment of Leigh syndrome.
Fabian Baertling, Richard J Rodenburg, Jörg Schaper, Jan A Smeitink, Werner J H Koopman, Ertan Mayatepek, Eva Morava, Felix Distelmaier. J Neurol Neurosurg Psychiatry 2014
108
50

Females with PDHA1 gene mutations: a diagnostic challenge.
Marjolein Willemsen, Richard J T Rodenburg, Alexandra Teszas, Lambert van den Heuvel, Gyorgy Kosztolanyi, Eva Morava. Mitochondrion 2006
17
50

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
Mike Gerards, Suzanne C E H Sallevelt, Hubert J M Smeets. Mol Genet Metab 2016
52
50

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.
Y Zhang, Y L Yang, F Sun, X Cai, N Qian, Y Yuan, Z X Wang, Y Qi, J X Xiao, X Y Wang,[...]. J Inherit Metab Dis 2007
21
50

[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Yao Zhang, Fang Sun, Yan-Ling Yang, Xing-Zhi Chang, Yu Qi, Zhao-Yue Qi, Jiang-Xi Xiao, Jiong Qin, Xi-Ru Wu. Zhongguo Dang Dai Er Ke Za Zhi 2007
3
50

L-Carnitine in Drosophila: A Review.
Maria Rosaria Carillo, Carla Bertapelle, Filippo Scialò, Mario Siervo, Gianrico Spagnuolo, Michele Simeone, Gianfranco Peluso, Filomena Anna Digilio. Antioxidants (Basel) 2020
4
50

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee. Pediatr Neonatol 2008
38
50

Leigh syndrome: One disorder, more than 75 monogenic causes.
Nicole J Lake, Alison G Compton, Shamima Rahman, David R Thorburn. Ann Neurol 2016
207
50


The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Wolfgang Sperl, Leanne Fleuren, Peter Freisinger, Tobias B Haack, Antonia Ribes, René G Feichtinger, Richard J Rodenburg, Franz A Zimmermann, Johannes Koch, Isabel Rivera,[...]. J Inherit Metab Dis 2015
29
50

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Alejandro Horga, Catherine E Woodward, Alberto Mills, Isabel Pareés, Iain P Hargreaves, Ruth M Brown, Enrico Bugiardini, Tony Brooks, Andreea Manole, Elena Remzova,[...]. Hum Genet 2019
5
50

Leigh syndrome: neuropathology and pathogenesis.
Nicole J Lake, Matthew J Bird, Pirjo Isohanni, Anders Paetau. J Neuropathol Exp Neurol 2015
72
50


Subacute necrotizing encephalomyelopathy in an infant.
D LEIGH. J Neurol Neurosurg Psychiatry 1951
652
50

Ketogenic diet in neuromuscular and neurodegenerative diseases.
Antonio Paoli, Antonino Bianco, Ernesto Damiani, Gerardo Bosco. Biomed Res Int 2014
94
50

Leigh syndrome: serial MR imaging and clinical follow-up.
J Arii, Y Tanabe. AJNR Am J Neuroradiol 2000
83
50

Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi. J Pediatr Neurosci 2017
6
50

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
Luis Carlos López, Markus Schuelke, Catarina M Quinzii, Tomotake Kanki, Richard J T Rodenburg, Ali Naini, Salvatore Dimauro, Michio Hirano. Am J Hum Genet 2006
271
50

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin. J Inherit Metab Dis 2017
59
50

Leigh syndrome: clinical features and biochemical and DNA abnormalities.
S Rahman, R B Blok, H H Dahl, D M Danks, D M Kirby, C W Chow, J Christodoulou, D R Thorburn. Ann Neurol 1996
520
50

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
Charalampos Mermigkis, Izolde Bouloukaki, Vasileios Mastorodemos, Andreas Plaitakis, Vangelis Alogdianakis, Nikolaos Siafakas, Sophia Schiza. Sleep Breath 2013
17
50

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
49
50

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.
P M van Erven, J P Cillessen, E M Eekhoff, F J Gabreëls, W H Doesburg, W A Lemmens, J L Slooff, W O Renier, W Ruitenbeek. Clin Neurol Neurosurg 1987
81
50

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
152
50

[The molecular background of Leigh syndrome].
Dorota Piekutowska-Abramczuk. Neurol Neurochir Pol 2008
9
50

Strategies for treating mitochondrial disorders: an update.
Mauro Scarpelli, Alice Todeschini, Fabrizio Rinaldi, Silvia Rota, Alessandro Padovani, Massimiliano Filosto. Mol Genet Metab 2014
12
50

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Kristin K Deeb, Jirair K Bedoyan, Raymond Wang, Leighann Sremba, Molly C Schroeder, George J Grahame, Monica Boyer, Shawn E McCandless, Douglas S Kerr, Shulin Zhang. Mol Genet Metab Rep 2014
3
50

Mitochondria: The ketogenic diet--A metabolism-based therapy.
Silvia Vidali, Sepideh Aminzadeh, Bridget Lambert, Tricia Rutherford, Wolfgang Sperl, Barbara Kofler, René G Feichtinger. Int J Biochem Cell Biol 2015
76
50

Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.
Zhiting Chen, Zhenhua Zhao, Qinyong Ye, Ying Chen, Xiaodong Pan, Bin Sun, Huapin Huang, An Zheng. Mol Med Rep 2015
10
50

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
156
50

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
20
50

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
49
50

Subacute necrotizing encephalomyelopathy. A review and a study of two families.
V J Montpetit, F Andermann, S Carpenter, J S Fawcett, D Zborowska-Sluis, H R Giberson. Brain 1971
183
50

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Emily Shelkowitz, Can Ficicioglu, Nicholas Stence, Johan Van Hove, Austin Larson. J Child Neurol 2020
3
50

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
77
50

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
50

Next-generation sequencing and its applications in molecular diagnostics.
Zhenqiang Su, Baitang Ning, Hong Fang, Huixiao Hong, Roger Perkins, Weida Tong, Leming Shi. Expert Rev Mol Diagn 2011
90
50

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.
Laura Monlleo-Neila, Mireia Del Toro, Belen Bornstein, Elena Garcia-Arumi, Axel Sarrias, Manuel Roig-Quilis, Francina Munell. J Child Neurol 2013
14
50

Late-adult onset Leigh syndrome.
Penelope McKelvie, Bernard Infeld, Rosetta Marotta, Judy Chin, David Thorburn, Steven Collins. J Clin Neurosci 2012
36
50


Genetic and biochemical findings in Chinese children with Leigh syndrome.
Yan-Yan Ma, Tong-Fei Wu, Yu-Peng Liu, Qiao Wang, Jin-Qing Song, Xi-Yuan Li, Xiu-Yu Shi, Wei-Na Zhang, Meng Zhao, Lin-Yan Hu,[...]. J Clin Neurosci 2013
22
50


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.