A citation-based method for searching scientific literature

Olena Bereznyakova, Nicolas Dupré. Handb Clin Neurol 2018
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
88
36

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Channa A Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K Robinson, Nick J Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis,[...]. Neurol Genet 2018
34
36

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
189
36

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira,[...]. JAMA Neurol 2013
77
27


Reviewing the genetic causes of spastic-ataxias.
Susanne T de Bot, Michel A A P Willemsen, Sascha Vermeer, Hubertus P H Kremer, Bart P C van de Warrenburg. Neurology 2012
48
27

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
66
27

Clinical and genetic study of hereditary spastic paraplegia in Canada.
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
60
18

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
324
18

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
David S Lynch, Charles Wade, Anderson Rodrigues Brandão de Paiva, Nevin John, Justin A Kinsella, Áine Merwick, Rebekah M Ahmed, Jason D Warren, Catherine J Mummery, Jonathan M Schott,[...]. J Neurol Neurosurg Psychiatry 2019
45
18

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau,[...]. Eur J Hum Genet 2016
35
18

Recessive ataxias.
Matthis Synofzik, Andrea H Németh. Handb Clin Neurol 2018
49
18

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
152
18

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Pedro Braga-Neto, Marcus Vinicius Cristino Albuquerque, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando Graziani Povoas Barsottini. Parkinsonism Relat Disord 2015
14
18

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston,[...]. Brain 2014
116
18

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, A I Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante,[...]. Clin Genet 2013
77
18

Next-generation diagnostics and disease-gene discovery with the Exomiser.
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington,[...]. Nat Protoc 2015
153
18

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.
Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau,[...]. Cerebellum 2019
51
18

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg. Eur J Hum Genet 2016
63
18

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro. Am J Hum Genet 2015
90
18

Autosomal-recessive cerebellar ataxias.
Brent L Fogel. Handb Clin Neurol 2018
13
18

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
355
18


Hereditary ataxias: overview.
Suman Jayadev, Thomas D Bird. Genet Med 2013
141
18

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Viorica Chelban, Nisha Patel, Jana Vandrovcova, M Natalia Zanetti, David S Lynch, Mina Ryten, Juan A Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou,[...]. Am J Hum Genet 2017
26
18

A novel GBA2 gene missense mutation in spastic ataxia.
Christina Votsi, Eleni Zamba-Papanicolaou, Lefkos T Middleton, Marios Pantzaris, Kyproula Christodoulou. Ann Hum Genet 2014
34
18

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li,[...]. Ann Neurol 2018
79
18

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
27
18

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
18

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, Natalia V Prodromou, Tom R Webb, Jean-Marc Gallo, Michael E Cheetham, William S Nicoll, Gregory L Blatch, J Paul Chapple. Hum Mol Genet 2009
106
18

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa,[...]. Brain 2016
70
18

Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
217
18

Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination.
Monika S Brill, Tatjana Kleele, Laura Ruschkies, Mengzhe Wang, Natalia A Marahori, Miriam S Reuter, Torben J Hausrat, Emily Weigand, Matthew Fisher, Andrea Ahles,[...]. Neuron 2016
67
9

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.
Gianluca Ardolino, Tommaso Bocci, Martina Nigro, Maurizio Vergari, Alessio Di Fonzo, Sara Bonato, Filippo Cogiamanian, Francesca Cortese, Ilaria Cova, Sergio Barbieri,[...]. J Spinal Cord Med 2021
13
9

Hereditary spastic paraplegia.
Craig Blackstone. Handb Clin Neurol 2018
76
9

ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Idil Ulengin, John J Park, Tina H Lee. Mol Biol Cell 2015
19
9

Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia.
K H Scheuer, K Svenstrup, P Jennum, B á Rogvi-Hansen, L Werdelin, K Fenger, J E Nielsen. Eur J Neurol 2007
5
20

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D'Angelo, Giovanni Meola, Andrea Martinuzzi,[...]. Hum Mutat 2008
73
9

A conserved role for atlastin GTPases in regulating lipid droplet size.
Robin W Klemm, Justin P Norton, Ronald A Cole, Chen S Li, Seong H Park, Matthew M Crane, Liying Li, Diana Jin, Alexandra Boye-Doe, Tina Y Liu,[...]. Cell Rep 2013
98
9

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.
Marinella Pirozzi, Angelo Quattrini, Gennaro Andolfi, Giorgia Dina, Maria Chiara Malaguti, Alberto Auricchio, Elena I Rugarli. J Clin Invest 2006
44
9

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.
Coralie Fassier, Anne Tarrade, Leticia Peris, Sabrina Courageot, Philippe Mailly, Cécile Dalard, Stéphanie Delga, Natacha Roblot, Julien Lefèvre, Didier Job,[...]. Dis Model Mech 2013
63
9

Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.
Genny Orso, Andrea Martinuzzi, Maria Giovanna Rossetto, Elena Sartori, Mel Feany, Andrea Daga. J Clin Invest 2005
81
9

Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia.
G Martino, Y Ivanenko, M Serrao, A Ranavolo, F Draicchio, M Rinaldi, C Casali, F Lacquaniti. Clin Neurophysiol 2018
12
9

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.
Jennifer Hirst, Georg H H Borner, James Edgar, Marco Y Hein, Matthias Mann, Frank Buchholz, Robin Antrobus, Margaret S Robinson. Mol Biol Cell 2013
75
9

BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation.
Nicolas Jardin, François Giudicelli, Daniel Ten Martín, Anaïs Vitrac, Stéphanie De Gois, Rachel Allison, Corinne Houart, Evan Reid, Jamilé Hazan, Coralie Fassier. Development 2018
14
9

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont,[...]. Neurobiol Dis 2017
59
9

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
Jonas Alex Saute, Roberto Giugliani, Louise S Merkens, John Pei-Wen Chiang, Andrea E DeBarber, Carolina Fischinger Moura de Souza. J Inherit Metab Dis 2015
10
10

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.
Carl Julien, Alexandra Lissouba, Surya Madabattula, Yasmin Fardghassemi, Cory Rosenfelt, Alaura Androschuk, Joel Strautman, Clement Wong, Andrew Bysice, Julia O'sullivan,[...]. Hum Mol Genet 2016
20
9




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.