A citation-based method for searching scientific literature

Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, María García Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L Perlman, Ian Rosemergy, Elsdon Storey, Shaun R D Watson, Michael A Wilson, David S Zee, David Valle, David J Amor, Melanie Bahlo, Paul J Lockhart. Am J Hum Genet 2019
Times Cited: 55







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



Times Cited
  Times     Co-cited
Similarity


Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
120
85

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman,[...]. Brain 2020
48
56

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.
Fulya Akçimen, Jay P Ross, Cynthia V Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G Barsottini, Bernard Brais, José Luiz Pedroso,[...]. Front Genet 2019
21
85

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.
David J Szmulewicz, Catriona A McLean, Michael L Rodriguez, Andrew M Chancellor, Stuart Mossman, Duncan Lamont, Leslie Roberts, Elsdon Storey, G Michael Halmagyi. Neurology 2014
53
32

Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
David J Szmulewicz, Leslie Roberts, Catriona A McLean, Hamish G MacDougall, G Michael Halmagyi, Elsdon Storey. Neurol Clin Pract 2016
50
32

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.
David J Szmulewicz, John A Waterston, Hamish G MacDougall, Stuart Mossman, Andrew M Chancellor, Catriona A McLean, Saumil Merchant, Peter Patrikios, G Michael Halmagyi, Elsdon Storey. Ann N Y Acad Sci 2011
73
27

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
Teddy Y Wu, Jennifer M Taylor, Dean H Kilfoyle, Andrew D Smith, Ben J McGuinness, Mark P Simpson, Elizabeth B Walker, Peter S Bergin, James C Cleland, David O Hutchinson,[...]. Brain 2014
32
46

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.
Jon Infante, Antonio García, Karla M Serrano-Cárdenas, Rocío González-Aguado, José Gazulla, Enrique M de Lucas, José Berciano. J Neurol 2018
23
56

Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.
Americo A Migliaccio, G Michael Halmagyi, Leigh A McGarvie, Phillip D Cremer. Brain 2004
74
18

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome.
D J Szmulewicz, J A Waterston, G M Halmagyi, S Mossman, A M Chancellor, C A McLean, E Storey. Neurology 2011
64
18

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota,[...]. J Hum Genet 2020
12
83

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
115
16

CANVAS an update: clinical presentation, investigation and management.
David J Szmulewicz, Catriona A McLean, Hamish G MacDougall, Leslie Roberts, Elsdon Storey, G Michael Halmagyi. J Vestib Res 2014
38
23

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
49
16

Detection of long repeat expansions from PCR-free whole-genome sequence data.
Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson,[...]. Genome Res 2017
120
14

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui,[...]. Nat Genet 2019
95
14

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana,[...]. Neurol Genet 2020
12
66

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.
Mai Tsuchiya, Haitian Nan, Kishin Koh, Yuta Ichinose, Lihua Gao, Keisuke Shimozono, Takanori Hata, Yeon-Jeong Kim, Toshihisa Ohtsuka, Andrea Cortese,[...]. J Hum Genet 2020
9
88

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
112
12

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min,[...]. Am J Hum Genet 2019
82
12

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
12

Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.
Michael Strupp, Ji-Soo Kim, Toshihisa Murofushi, Dominik Straumann, Joanna C Jen, Sally M Rosengren, Charles C Della Santina, Herman Kingma. J Vestib Res 2017
160
12


Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Am J Hum Genet 2018
35
20

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report.
David J Szmulewicz, Saumil N Merchant, Gabor Michael Halmagyi. Otol Neurotol 2011
37
18

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Sarah J Beecroft, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Zoe Dyer, Teddy Y Wu, Eoin Mulroy, Luciana Pelosi, Miriam Rodrigues, Rachael Taylor,[...]. Brain 2020
7
100


Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
Masakatsu Taki, Takashi Nakamura, Hiraku Matsuura, Tatsuhisa Hasegawa, Hirofumi Sakaguchi, Kanako Morita, Ryotaro Ishii, Ikuko Mizuta, Takashi Kasai, Toshiki Mizuno,[...]. Auris Nasus Larynx 2018
12
50

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
119
10

Profiling the genome-wide landscape of tandem repeat expansions.
Nima Mousavi, Sharona Shleizer-Burko, Richard Yanicky, Melissa Gymrek. Nucleic Acids Res 2019
35
17

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
41
14

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
31
19


No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA.
Yu Fan, Shuo Zhang, Jing Yang, Cheng-Yuan Mao, Zhi-Hua Yang, Zheng-Wei Hu, Yan-Lin Wang, Yu-Tao Liu, Han Liu, Yan-Peng Yuan,[...]. Parkinsonism Relat Disord 2020
10
60

Clinical application of next-generation sequencing to the practice of neurology.
Jessica Rexach, Hane Lee, Julian A Martinez-Agosto, Andrea H Németh, Brent L Fogel. Lancet Neurol 2019
30
16

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
157
9

STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S Clayton, Nigel G Laing,[...]. Genome Biol 2018
47
10

VEMPs and Dysautonomia Assessment in Definite Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Case Series Study.
David Moreno-Ajona, Laura Álvarez-Gómez, Raquel Manrique-Huarte, Estefanía Rivas, Eduardo Martínez-Vila, Nicolás Pérez-Fernández. Cerebellum 2021
5
100

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
9

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.
L Pelosi, E Mulroy, R Leadbetter, D Kilfoyle, A M Chancellor, S Mossman, L Wing, T Y Wu, R H Roxburgh. Eur J Neurol 2018
16
31

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.
Daniele Cazzato, Eleonora Dalla Bella, Patrizia Dacci, Caterina Mariotti, Giuseppe Lauria. J Neurol 2016
12
41

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
173
9

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart. F1000Res 2018
31
16

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk. Brain 2019
31
16

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
David J Szmulewicz, Linda Seiderer, G Michael Halmagyi, Elsdon Storey, Leslie Roberts. Muscle Nerve 2015
23
21

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Roisin Sullivan, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, E O'Connor, Nicholas W Wood, Andrea Cortese, Henry Houlden. Mov Disord 2020
10
50

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.
Maria Gisatulin, Valerija Dobricic, Christine Zühlke, Yorck Hellenbroich, Vera Tadic, Alexander Münchau, Klaus Isenhardt, Katrin Bürk, Melanie Bahlo, Paul J Lockhart,[...]. Neurology 2020
8
62

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
166
7

Second consensus statement on the diagnosis of multiple system atrophy.
S Gilman, G K Wenning, P A Low, D J Brooks, C J Mathias, J Q Trojanowski, N W Wood, C Colosimo, A Dürr, C J Fowler,[...]. Neurology 2008
7

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Miao Sun, Amy Knight Johnson, Viswateja Nelakuditi, Lucia Guidugli, David Fischer, Kelly Arndt, Lan Ma, Erin Sandford, Vikram Shakkottai, Kym Boycott,[...]. Genet Med 2019
28
14


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.