A citation-based method for searching scientific literature

Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi. Brain Dev 2019
Times Cited: 9







List of co-cited articles
38 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
55

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Chihiro Ohba, Hitoshi Osaka, Mizue Iai, Sumimasa Yamashita, Yume Suzuki, Noriko Aida, Nobuyuki Shimozawa, Ayumi Takamura, Hiroshi Doi, Atsuko Tomita-Katsumoto,[...]. Neurogenetics 2013
78
33

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A Rouleau, Oksana Suchowersky, Victoria Siu,[...]. Hum Mutat 2014
65
22

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend,[...]. J Neurol Neurosurg Psychiatry 2017
63
22

Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao. Mol Genet Genomic Med 2019
11
22

KIF1A mutation in a patient with progressive neurodegeneration.
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki. J Hum Genet 2014
37
22

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.
Keisuke Yoshikawa, Motoi Kuwahara, Kazumasa Saigoh, Hiroyuki Ishiura, Yuko Yamagishi, Yuta Hamano, Makoto Samukawa, Hidekazu Suzuki, Makito Hirano, Yoshiyuki Mitsui,[...]. eNeurologicalSci 2018
11
22

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
Leslie Hotchkiss, Sandra Donkervoort, Meganne E Leach, Payam Mohassel, Diana X Bharucha-Goebel, Nathaniel Bradley, David Nguyen, Ying Hu, Juliana Gurgel-Giannetti, Carsten G Bönnemann. J Child Neurol 2016
21
22

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft. PLoS One 2017
31
22

Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
Ricardo H Roda, Alice B Schindler, Craig Blackstone. Ann Clin Transl Neurol 2017
6
33

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Cong Lu, Li-Xi Li, Hai-Lin Dong, Qiao Wei, Zhi-Jun Liu, Wang Ni, Aaron D Gitler, Zhi-Ying Wu. J Mol Med (Berl) 2018
13
22

Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family.
Arika Hasegawa, Ryoko Koike, Kishin Koh, Akio Kawakami, Norikazu Hara, Yoshihisa Takiyama, Takeshi Ikeuchi. J Neurol Sci 2017
4
50

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A Mitchell, Allison Schreiber,[...]. Hum Mutat 2015
70
22

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
Andrea Citterio, Alessia Arnoldi, Elena Panzeri, Luciano Merlini, Maria Grazia D'Angelo, Olimpia Musumeci, Antonio Toscano, Alice Bondi, Andrea Martinuzzi, Nereo Bresolin,[...]. J Neurol 2015
31
22

Genetic heterogeneity in infantile spasms.
Alison M Muir, Candace T Myers, Nancy T Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman-Zacharska, Renzo Guerrini, Anna-Elina Lehesjoki,[...]. Epilepsy Res 2019
15
22

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio,[...]. Orphanet J Rare Dis 2016
14
22

Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation.
Lina Raffa, Marie-Pierre Matton, Jacques Michaud, Elsa Rossignol, Jean-Claude Decarie, Luis H Ospina. Can J Ophthalmol 2017
6
33

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco. Ital J Pediatr 2019
4
50

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Fadi F Hamdan, Julie Gauthier, Yoichi Araki, Da-Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, A-Reum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton,[...]. Am J Hum Genet 2011
229
22

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Sahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina Lexa, Jonathan Strober, Christine Spaeth, Barbara E Hallinan, Nizar Smaoui,[...]. Ann Clin Transl Neurol 2015
58
22

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Emil Ylikallio, Doyoun Kim, Pirjo Isohanni, Mari Auranen, Eunjoon Kim, Tuula Lönnqvist, Henna Tyynismaa. Eur J Hum Genet 2015
30
22

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy Merner, Daniel Rochefort, Pascale Hince,[...]. Am J Hum Genet 2011
120
22

Analysis of spinal muscular atrophy-like patients by targeted resequencing.
Shinichi Hosokawa, Yuji Kubo, Reiko Arakawa, Hiroshi Takashima, Kayoko Saito. Brain Dev 2020
4
50

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
Sylvie Langlois, Maja Tarailo-Graovac, Bryan Sayson, Britt Drögemöller, Anne Swenerton, Colin Jd Ross, Wyeth W Wasserman, Clara Dm van Karnebeek. Eur J Hum Genet 2016
23
22

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuji. Intern Med 2020
5
40

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee. Sci Rep 2017
20
22

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Maartje Pennings, Meyke I Schouten, Judith van Gaalen, Rowdy P P Meijer, Susanne T de Bot, Marjolein Kriek, Christiaan G J Saris, Leonard H van den Berg, Michael A van Es, Dick M H Zuidgeest,[...]. Eur J Hum Genet 2020
20
22

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
M Krenn, G Zulehner, C Hotzy, J Rath, E Stogmann, M Wagner, T B Haack, T M Strom, A Zimprich, F Zimprich. Eur J Neurol 2017
14
22

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cecilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer,[...]. Eur J Hum Genet 2012
75
22

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Matilde Laura, Julian C Blake, Henry Houlden, Mary M Reilly. J Peripher Nerv Syst 2017
12
22

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobanska, Jacek Pilch, Dorota Antczak-Marach, Jacek Zaremba, Anna Sulek. Neurogenetics 2019
17
22

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Yaniv Erlich, Simon Edvardson, Emily Hodges, Shamir Zenvirt, Pramod Thekkat, Avraham Shaag, Talya Dor, Gregory J Hannon, Orly Elpeleg. Genome Res 2011
130
22

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima,[...]. J Hum Genet 2015
30
22


Ophthalmic features of ataxia telangiectasia-like disorder.
Arif O Khan, Darren T Oystreck, Michel Koenig, Mustafa A Salih. J AAPOS 2008
14
22

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Domenico Delia, Maria Piane, Giacomo Buscemi, Camilla Savio, Silvia Palmeri, Patrizia Lulli, Luigi Carlessi, Enrico Fontanella, Luciana Chessa. Hum Mol Genet 2004
78
22

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Marie Fernet, Moez Gribaa, Mustafa A M Salih, Mohamed Zein Seidahmed, Janet Hall, Michel Koenig. Hum Mol Genet 2005
88
22

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
G S Stewart, R S Maser, T Stankovic, D A Bressan, M I Kaplan, N G Jaspers, A Raams, P J Byrd, J H Petrini, A M Taylor. Cell 1999
761
22

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
649
11

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik,[...]. Brain 2009
136
11

Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.
Lasse Pihlstrøm, Aina Rengmark, Kari Anne Bjørnarå, Mathias Toft. Ann Hum Genet 2014
15
11


Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Martial Mallaret, Mathilde Renaud, Claire Redin, Nathalie Drouot, Jean Muller, Francois Severac, Jean Louis Mandel, Wahiba Hamza, Traki Benhassine, Lamia Ali-Pacha,[...]. J Neurol 2016
11
11

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
12

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.
Elif Acar Arslan, Rahşan Göçmen, Kader Karlı Oğuz, Gökçen Düzgün Konuşkan, Esra Serdaroğlu, Haluk Topaloğlu, Meral Topçu. Acta Neurol Belg 2017
2
50

A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, Fanny Mochel, Matthis Synofzik, Bart van de Warrenburg, Massimo Pandolfo, Michel Koenig, Stefan A Kolb, Mathieu Anheim. Ann Neurol 2017
17
11

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
26
11

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
152
11

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
107
11

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon,[...]. Brain 2015
85
11


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.