A citation-based method for searching scientific literature

Francesco Nicita, Marta Nardella, Emanuele Bellacchio, Paolo Alfieri, Gaetano Terrone, Giorgia Piccini, Federica Graziola, Claudio Pignata, Alessandro Capuano, Enrico Bertini, Ginevra Zanni. Clin Genet 2019
Times Cited: 14







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



Times Cited
  Times     Co-cited
Similarity


Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk,[...]. Nat Genet 2006
244
71

De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, Wayne I L Davies, Maria Cristina D'Adamo, Mauro Pessia, Katherine A Fawcett, David Sims, Elodie Gillard, Karl Hudspith,[...]. Brain 2015
91
57

Case of infantile onset spinocerebellar ataxia type 5.
Francois-Dominique Jacob, Eugenia S Ho, Mayra Martinez-Ojeda, Basil T Darras, Omar S Khwaja. J Child Neurol 2013
27
50

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Sara Nuovo, Alessia Micalizzi, Stefano D'Arrigo, Monia Ginevrino, Tommaso Biagini, Tommaso Mazza, Enza Maria Valente. Eur J Hum Genet 2018
12
58

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory,[...]. PLoS Genet 2012
64
42

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem, Joël Lafond-Lapalme, Alexandre Dionne Laporte, Guy A Rouleau, Jean-Baptiste Rivière, Myriam Srour. J Child Neurol 2020
5
100

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.
Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani. Brain Dev 2019
8
62


Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J Morrison. Cerebellum 2020
4
100


Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
K Bürk, C Zühlke, I R König, A Ziegler, E Schwinger, C Globas, J Dichgans, Y Hellenbroich. Neurology 2004
44
28

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Solaf M Elsayed, Raoul Heller, Michaela Thoenes, Maha S Zaki, Daniel Swan, Ezzat Elsobky, Christine Zühlke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg,[...]. Eur J Hum Genet 2014
27
28

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Ying Wang, Kishin Koh, Michiaki Miwa, Nobuo Yamashiro, Kazumasa Shindo, Yoshihisa Takiyama. J Hum Genet 2014
17
28

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun. Am J Med Genet A 2017
12
33

Spinocerebellar ataxia type 5.
Katherine A Dick, Yoshio Ikeda, John W Day, Laura P W Ranum. Handb Clin Neurol 2012
21
21

Clinical and MRI findings in spinocerebellar ataxia type 5.
G Stevanin, A Herman, A Brice, A Dürr. Neurology 1999
55
21

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
21

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
14

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan,[...]. Orphanet J Rare Dis 2017
23
14

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
612
14

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
Damaris N Lorenzo, Min-gang Li, Sarah E Mische, Karen R Armbrust, Laura P W Ranum, Thomas S Hays. J Cell Biol 2010
61
14

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
14

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo,[...]. Brain 2017
56
14

Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
941
14

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Lise Larrieu, Perrine Charles, Xavier Ayrignac, Sabrina Sacconi, Patrick Collignon,[...]. Hum Mutat 2016
28
14

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B E Becker, Katarzyna D Bera, Morag E Shanks, Lorna Gregory, David Buck, M Zameel Cader,[...]. Brain 2013
109
14

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya. Cerebellum 2018
11
18

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Yvonne L Clarkson, Trudi Gillespie, Emma M Perkins, Alastair R Lyndon, Mandy Jackson. Hum Mol Genet 2010
37
14

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.
Li-Zhi Liu, Ming Ren, Mao Li, Yu-Ting Ren, Bo Sun, Xiao-Sun Sun, Si-Yu Chen, Si-Yuan Li, Xu-Sheng Huang. Chin Med J (Engl) 2016
7
28

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
14

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Emma M Perkins, Yvonne L Clarkson, Nancy Sabatier, David M Longhurst, Christopher P Millward, Jennifer Jack, Junko Toraiwa, Mitsunori Watanabe, Jeffrey D Rothstein, Alastair R Lyndon,[...]. J Neurosci 2010
86
14

A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.
Adam W Avery, Jonathan Crain, David D Thomas, Thomas S Hays. Sci Rep 2016
10
20


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

Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation.
Adam W Avery, Michael E Fealey, Fengbin Wang, Albina Orlova, Andrew R Thompson, David D Thomas, Thomas S Hays, Edward H Egelman. Nat Commun 2017
20
14

Spinocerebellar ataxias.
Bing-Wen Soong, Patrick J Morrison. Handb Clin Neurol 2018
30
7

Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.
Chengzu Long, Chad E Grueter, Kunhua Song, Song Qin, Xiaoxia Qi, Y Megan Kong, John M Shelton, James A Richardson, Chun-Li Zhang, Rhonda Bassel-Duby,[...]. Proc Natl Acad Sci U S A 2014
22
7

DeNovoGear: de novo indel and point mutation discovery and phasing.
Avinash Ramu, Michiel J Noordam, Rachel S Schwartz, Arthur Wuster, Matthew E Hurles, Reed A Cartwright, Donald F Conrad. Nat Methods 2013
105
7

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
381
7

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, Maria D Descartes, Katherine D Rutledge, S Lane Rutledge, Bruce R Korf, Andrew J Carroll. Am J Med Genet A 2011
118
7

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Daniel Benjamin Callaghan, Sanja Rogic, Powell Patrick Cheng Tan, Kristina Calli, Ying Qiao, Robert Baldwin, Matthew Jacobson, Manuel Belmadani, Nathan Holmes, Chang Yu,[...]. Clin Genet 2019
9
11

CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.
Emanuele G Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen, Joachim Riedel. Mol Cytogenet 2016
6
16

AutDB: a gene reference resource for autism research.
Saumyendra N Basu, Ravi Kollu, Sharmila Banerjee-Basu. Nucleic Acids Res 2009
244
7

Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.
Shashank Agarwal, Rebecca Gilbert, Heather A Lau. Mov Disord Clin Pract 2016
2
50

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Iris G M Wijnen, Hermine E Veenstra-Knol, Fleur Vansenne, Erica H Gerkes, Tom de Koning, Yvonne J Vos, Marina A J Tijssen, Deborah Sival, Niklas Darin, Els K Vanhoutte,[...]. Eur J Hum Genet 2020
2
50

A potential dimerization region of dCAMTA is critical for termination of fly visual response.
Ping Gong, Junhai Han, Keith Reddig, Hong-Sheng Li. J Biol Chem 2007
11
9

CAMTA1, a 1p36 tumor suppressor candidate, inhibits growth and activates differentiation programs in neuroblastoma cells.
Kai-Oliver Henrich, Tobias Bauer, Johannes Schulte, Volker Ehemann, Hedwig Deubzer, Sina Gogolin, Daniel Muth, Matthias Fischer, Axel Benner, Rainer König,[...]. Cancer Res 2011
58
7

CAMTA1 T polymorphism is associated with neuropsychological test performance in older adults with cardiovascular disease.
Lindsay A Miller, John Gunstad, Mary Beth Spitznagel, Jeanne McCaffery, John McGeary, Athena Poppas, Robert H Paul, Lawrence H Sweet, Ronald A Cohen. Psychogeriatrics 2011
9
11

Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells.
Kaname Nakatani, Junji Nishioka, Tatsuo Itakura, Yoshio Nakanishi, Jun-Ichi Horinouchi, Yasunori Abe, Hideo Wada, Tsutomu Nobori. Int J Oncol 2004
22
7

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-Ouran, Yanhui Hu, Seon-Young Kim, Ying-Wooi Wan, Michael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, Aram Comjean, Stephanie E Mohr,[...]. Am J Hum Genet 2017
87
7


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.