A citation-based method for searching scientific literature

Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M Santorelli. Ann Clin Transl Neurol 2020
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


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
100

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà,[...]. Eur J Neurol 2020
27
75

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Daniele Galatolo, Molly E Kuo, Patrick Mullen, Rebecca Meyer-Schuman, Stefano Doccini, Roberta Battini, Maria Lieto, Alessandra Tessa, Alessandro Filla, Christopher Francklyn,[...]. Hum Mutat 2020
5
75

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti,[...]. Brain 2017
50
50

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Gloria Brea-Calvo, Tobias B Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi,[...]. Am J Hum Genet 2015
57
50

The "crab sign": an imaging feature of spinocerebellar ataxia type 48.
Sirio Cocozza, Giuseppe Pontillo, Giovanna De Michele, Teresa Perillo, Elvira Guerriero, Lorenzo Ugga, Elena Salvatore, Daniele Galatolo, Vittorio Riso, Francesco Saccà,[...]. Neuroradiology 2020
6
50

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
Vittorio Riso, S Rossi, A Perna, T Nicoletti, L Bosco, G Zanni, G Silvestri. Neurol Sci 2020
3
66

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Monique H M Vlak, Richard J Sinke, Gwenda M Rabelink, Berry P H Kremer, Bart P C van de Warrenburg. Mov Disord 2006
38
50

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
Eline A Verberne, Lotje Dalen Meurs, Nicole I Wolf, Mieke M van Haelst. Am J Med Genet A 2020
6
25

Electrophysiological characterisation in hereditary spastic paraplegia type 5.
Fiore Manganelli, Chiara Pisciotta, Raffaele Dubbioso, Rosa Iodice, Chiara Criscuolo, Lucia Ruggiero, Giuseppe De Michele, Lucio Santoro. Clin Neurophysiol 2011
23
25

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-Ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama,[...]. Am J Hum Genet 2011
102
25

Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review.
Sue-Faye Siow, Ruaridh Cameron Smail, Karl Ng, Kishore R Kumar, Carolyn M Sue. Front Neurol 2019
7
25

POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
Jon Infante, Karla M Serrano-Cárdenas, Marc Corral-Juan, Xavier Farré, Ivelisse Sánchez, Enrique M de Lucas, Antonio García, José Luis Martín-Gurpegui, José Berciano, Antoni Matilla-Dueñas. J Neurol 2020
5
25

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
145
25

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Siri L Rydning, Jeanette Koht, Ying Sheng, Piotr Sowa, Hanne S Hjorthaug, Iselin M Wedding, Anne Kjersti Erichsen, Inger Anette Hovden, Paul H Backe, Chantal M E Tallaksen,[...]. Brain 2019
14
25

Different cortical excitability profiles in hereditary brain iron and copper accumulation.
Raffaele Dubbioso, Lucia Ruggiero, Marcello Esposito, Paola Tarantino, Marcello De Angelis, Francesco Aruta, Sabina Pappatà, Lorenzo Ugga, Alberto Piperno, Raffaele Iorio,[...]. Neurol Sci 2020
3
33

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella,[...]. JAMA Neurol 2018
28
25

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni Carosso, Isabelle Clément, Odile Boespflug-Tanguy, Diana Rodriguez, Valérie Delague,[...]. Am J Hum Genet 2011
149
25

Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome.
Pia Bernardo, Stuart Cobb, Antonietta Coppola, Leo Tomasevic, Vincenzo Di Lazzaro, Carmela Bravaccio, Fiore Manganelli, Raffaele Dubbioso. Ann Neurol 2020
5
25

Multimodal evoked potentials follow up in multiple sclerosis patients under fingolimod therapy.
R Iodice, A Carotenuto, R Dubbioso, I Cerillo, L Santoro, F Manganelli. J Neurol Sci 2016
12
25

POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman,[...]. Neurogenetics 2020
9
25

Coenzyme Q is an obligatory cofactor for uncoupling protein function.
K S Echtay, E Winkler, M Klingenberg. Nature 2000
246
25

Coenzyme Q10 increases the fatty acid oxidation through AMPK-mediated PPARα induction in 3T3-L1 preadipocytes.
Soo Kyung Lee, Jung Ok Lee, Ji Hae Kim, Nami Kim, Ga Young You, Ji Wook Moon, Jie Sha, Su Jin Kim, Yong Woo Lee, Ho Jin Kang,[...]. Cell Signal 2012
59
25

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
Theresa P T Nguyen, Alberto Casarin, Maria Andrea Desbats, Mara Doimo, Eva Trevisson, Carlos Santos-Ocaña, Placido Navas, Catherine F Clarke, Leonardo Salviati. Biochim Biophys Acta 2014
34
25


Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene.
Damià Romero-Moya, Julio Castaño, Carlos Santos-Ocaña, Plácido Navas, Pablo Menendez. Stem Cell Res 2017
9
25

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.
Stefano Doccini, Federica Morani, Claudia Nesti, Francesco Pezzini, Giulio Calza, Rabah Soliymani, Giovanni Signore, Silvia Rocchiccioli, Katja M Kanninen, Mikko T Huuskonen,[...]. Cell Death Discov 2020
10
25

Optimized CRISPR-Cas9 System for Genome Editing in Zebrafish.
Charles E Vejnar, Miguel A Moreno-Mateos, Daniel Cifuentes, Ariel A Bazzini, Antonio J Giraldez. Cold Spring Harb Protoc 2016
34
25

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
Manuel J Acosta Lopez, Eva Trevisson, Marcella Canton, Luis Vazquez-Fonseca, Valeria Morbidoni, Elisa Baschiera, Chiara Frasson, Ludovic Pelosi, Bérengère Rascalou, Maria Andrea Desbats,[...]. Oxid Med Cell Longev 2019
17
25

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.
Marco Spinazzi, Alberto Casarin, Vanessa Pertegato, Mario Ermani, Leonardo Salviati, Corrado Angelini. Mitochondrion 2011
44
25

Metabolism and function of coenzyme Q.
Mikael Turunen, Jerker Olsson, Gustav Dallner. Biochim Biophys Acta 2004
618
25

Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system.
Li-En Jao, Susan R Wente, Wenbiao Chen. Proc Natl Acad Sci U S A 2013
742
25

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells.
Cristina Cerqua, Alberto Casarin, Fabien Pierrel, Luis Vazquez Fonseca, Giampiero Viola, Leonardo Salviati, Eva Trevisson. Sci Rep 2019
7
25

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Mandy H Y Tsang, Anna K Y Kwong, Kate L S Chan, Jasmine L F Fung, Mullin H C Yu, Christopher C Y Mak, Kit-San Yeung, Richard J T Rodenburg, Jan A M Smeitink, Rachel Chan,[...]. Hum Genomics 2020
4
25

Human coenzyme Q10 deficiency.
Catarina M Quinzii, Salvatore DiMauro, Michio Hirano. Neurochem Res 2007
111
25

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.
Maria Marchese, Giulia Valvo, Francesca Moro, Federico Sicca, Filippo M Santorelli. Neuromolecular Med 2016
11
25

Distal motor neuropathy associated with novel EMILIN1 mutation.
Michele Iacomino, Roberto Doliana, Maria Marchese, Alessandra Capuano, Pasquale Striano, Paola Spessotto, Giulia Bosisio, Rosa Iodice, Fiore Manganelli, Paola Lanteri,[...]. Neurobiol Dis 2020
1
100

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.
Ahmet Okay Caglayan, Hakan Gumus, Erin Sandford, Thomas L Kubisiak, Qianyi Ma, A Bilge Ozel, Huseyin Per, Jun Z Li, Vikram G Shakkottai, Margit Burmeister. Cerebellum 2019
12
25

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.
Shamima Rahman, Catherine F Clarke, Michio Hirano. Neuromuscul Disord 2012
59
25

Granule cells control recovery from classical conditioned fear responses in the zebrafish cerebellum.
Koji Matsuda, Masayuki Yoshida, Koichi Kawakami, Masahiko Hibi, Takashi Shimizu. Sci Rep 2017
15
25

High-resolution in situ hybridization to whole-mount zebrafish embryos.
Christine Thisse, Bernard Thisse. Nat Protoc 2008
25

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
Wendy K Chung, Kimberly Martin, Chaim Jalas, Stephen R Braddock, Jane Juusola, Kristin G Monaghan, Barbara Warner, Samuel Franks, Marc Yudkoff, Lauren Lulis,[...]. J Med Genet 2015
29
25

Animal models of human disease: zebrafish swim into view.
Graham J Lieschke, Peter D Currie. Nat Rev Genet 2007
25

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.
Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David W Sant, Matt C Danzi, Alexander J Abrams, Julia E Dallman, Stephan Züchner. PLoS One 2020
12
25

Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.
M D Cordero, A M Moreno-Fernández, M deMiguel, P Bonal, F Campa, L M Jiménez-Jiménez, A Ruiz-Losada, B Sánchez-Domínguez, J A Sánchez Alcázar, L Salviati,[...]. Clin Biochem 2009
49
25


Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Leonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, Maria Andrea Desbats, Geppo Sartori,[...]. J Med Genet 2012
77
25

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori,[...]. Hum Mutat 2018
32
25

The antioxidant role of coenzyme Q.
Magnus Bentinger, Kerstin Brismar, Gustav Dallner. Mitochondrion 2007
283
25



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.