A citation-based method for searching scientific literature

Ignacio Juan Keller Sarmiento, Niccolò Emanuele Mencacci. Curr Neurol Neurosci Rep 2021
Times Cited: 12







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



Times Cited
  Times     Co-cited
Similarity


Dystonia.
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, Antonio Pisani, John Rothwell, Joseph Jankovic, Marie Vidailhet, Kailash P Bhatia. Nat Rev Dis Primers 2018
144
66

Phenomenology and classification of dystonia: a consensus update.
Alberto Albanese, Kailash Bhatia, Susan B Bressman, Mahlon R Delong, Stanley Fahn, Victor S C Fung, Mark Hallett, Joseph Jankovic, Hyder A Jinnah, Christine Klein,[...]. Mov Disord 2013
66

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Dora Steel, Michael Zech, Chen Zhao, Katy E S Barwick, Derek Burke, Diane Demailly, Kishore R Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov,[...]. Ann Neurol 2020
40
58

Monogenic variants in dystonia: an exome-wide sequencing study.
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer,[...]. Lancet Neurol 2020
70
50

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Niccolò E Mencacci, Regina Reynolds, Sonia Garcia Ruiz, Jana Vandrovcova, Paola Forabosco, Alvaro Sánchez-Ferrer, Viola Volpato, Michael E Weale, Kailash P Bhatia, Caleb Webber,[...]. Brain 2020
26
41

Increased diagnostic yield in complex dystonia through exome sequencing.
Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion-François, Aurélie Méneret, Domitille Gras,[...]. Parkinsonism Relat Disord 2020
24
41

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Michael Zech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Yasemin Dincer, Ariane Sadr-Nabavi, Tereza Serranová, Irena Rektorová,[...]. Parkinsonism Relat Disord 2021
11
36

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kishore R Kumar, Ryan L Davis, Michel C Tchan, G M Wali, Neil Mahant, Karl Ng, Katya Kotschet, Sue-Faye Siow, Jason Gu, Zachary Walls,[...]. Parkinsonism Relat Disord 2019
30
33

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Tania Fuchs, Sophie Gavarini, Rachel Saunders-Pullman, Deborah Raymond, Michelle E Ehrlich, Susan B Bressman, Laurie J Ozelius. Nat Genet 2009
220
33

The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Dhananjay Yellajoshyula, Chun-Chi Liang, Samuel S Pappas, Silvia Penati, Angela Yang, Rodan Mecano, Ravindran Kumaran, Stephanie Jou, Mark R Cookson, William T Dauer. Dev Cell 2017
31
33

Isolated dystonia: clinical and genetic updates.
Aloysius Domingo, Rachita Yadav, Laurie J Ozelius. J Neural Transm (Vienna) 2021
11
36

CNS critical periods: implications for dystonia and other neurodevelopmental disorders.
Jay Li, Sumin Kim, Samuel S Pappas, William T Dauer. JCI Insight 2021
8
50

Emerging and converging molecular mechanisms in dystonia.
Paulina Gonzalez-Latapi, Nicolas Marotta, Niccolò E Mencacci. J Neural Transm (Vienna) 2021
14
25

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
25


Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.
Fu Bo Cheng, Xin Hua Wan, Jia Chun Feng, Ling Yan Ma, Bo Hou, Feng Feng, Lin Wang, Ying Mai Yang. Parkinsonism Relat Disord 2012
13
25

Microstructural white matter changes in carriers of the DYT1 gene mutation.
Maren Carbon, Peter B Kingsley, Sherwin Su, Gwenn S Smith, Phoebe Spetsieris, Susan Bressman, David Eidelberg. Ann Neurol 2004
90
25

The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity.
Thomas Clouaire, Myriam Roussigne, Vincent Ecochard, Catherine Mathe, François Amalric, Jean-Philippe Girard. Proc Natl Acad Sci U S A 2005
111
25

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
L J Ozelius, J W Hewett, C E Page, S B Bressman, P L Kramer, C Shalish, D de Leon, M F Brin, D Raymond, D P Corey,[...]. Nat Genet 1997
770
25

The transcription factor Yin Yang 1 is essential for oligodendrocyte progenitor differentiation.
Ye He, Jeff Dupree, Ju Wang, Juan Sandoval, Jiadong Li, Huifei Liu, Yang Shi, Klaus Armin Nave, Patrizia Casaccia-Bonnefil. Neuron 2007
198
25

YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Giovanna Zorzi, Ignacio Juan Keller Sarmiento, Federica Rachele Danti, Bernabe I Bustos, Federica Invernizzi, Celeste Panteghini, Chiara Reale, Barbara Garavaglia, Luisa Chiapparini, Steven J Lubbe,[...]. Mov Disord 2021
8
37

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan,[...]. Brain 2020
31
25

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Demy J S Kuipers, Wim Mandemakers, Chin-Song Lu, Simone Olgiati, Guido J Breedveld, Christina Fevga, Vera Tadic, Miryam Carecchio, Bradley Osterman, Lena Sagi-Dain,[...]. Ann Neurol 2021
16
25

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Edoardo Monfrini, Michael Zech, Dora Steel, Manju A Kurian, Juliane Winkelmann, Alessio Di Fonzo. Brain 2021
9
33

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Michael Zech, Sylvia Boesch, Esther M Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andres Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti,[...]. Am J Hum Genet 2016
91
25

Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia.
Baojin Ding, Yu Tang, Shuaipeng Ma, Masuma Akter, Meng-Lu Liu, Tong Zang, Chun-Li Zhang. J Neurosci 2021
18
16

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
16

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M Riedhammer, Dominik S Westphal, Isabella Mahle, Katharina Mayerhanser,[...]. Clin Genet 2021
21
16

Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt, Giuseppe Gallone, Stefan H Lelieveld, Hilary C Martin, Jeremy F McRae,[...]. Nature 2020
135
16

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner,[...]. Mov Disord 2017
72
16

The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes.
Corinne Cayrol, Chrystelle Lacroix, Catherine Mathe, Vincent Ecochard, Michele Ceribelli, Emilie Loreau, Vladimir Lazar, Philippe Dessen, Roberto Mantovani, Luc Aguilar,[...]. Blood 2007
105
16

Combined dystonias: clinical and genetic updates.
Anne Weissbach, Gerard Saranza, Aloysius Domingo. J Neural Transm (Vienna) 2021
6
33

Structural white matter abnormalities in patients with idiopathic dystonia.
Leonardo Bonilha, Paulien M de Vries, Diana J Vincent, Chris Rorden, Paul S Morgan, Mark W Hurd, Nada Besenski, Kenneth J Bergmann, Vanessa K Hinson. Mov Disord 2007
50
16

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies.
Myriam Roussigne, Corinne Cayrol, Thomas Clouaire, François Amalric, Jean-Philippe Girard. Oncogene 2003
114
16

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways.
Damien Bessière, Chrystelle Lacroix, Sébastien Campagne, Vincent Ecochard, Valérie Guillet, Lionel Mourey, Frédéric Lopez, Jerzy Czaplicki, Pascal Demange, Alain Milon,[...]. J Biol Chem 2008
61
16

Dystonia genes and their biological pathways.
H A Jinnah, Yan V Sun. Neurobiol Dis 2019
26
16

Molecular pathways in dystonia.
D Cristopher Bragg, Ioanna A Armata, Flavia C Nery, Xandra O Breakefield, Nutan Sharma. Neurobiol Dis 2011
64
16

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Marta Ruiz, Georgina Perez-Garcia, Maitane Ortiz-Virumbrales, Aurelie Méneret, Andrika Morant, Jessica Kottwitz, Tania Fuchs, Justine Bonet, Pedro Gonzalez-Alegre, Patrick R Hof,[...]. Hum Mol Genet 2015
35
16

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging.
Martin Niethammer, Maren Carbon, Miklos Argyelan, David Eidelberg. Neurobiol Dis 2011
114
16

Structural determinants of specific DNA-recognition by the THAP zinc finger.
Sébastien Campagne, Olivier Saurel, Virginie Gervais, Alain Milon. Nucleic Acids Res 2010
43
16

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.
Francesca Aguilo, Zuchra Zakirova, Katie Nolan, Ryan Wagner, Rajal Sharma, Megan Hogan, Chengguo Wei, Yifei Sun, Martin J Walsh, Kevin Kelley,[...]. Stem Cell Reports 2017
19
16

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.
Joseph E Rittiner, Zachary F Caffall, Ricardo Hernández-Martinez, Sydney M Sanderson, James L Pearson, Kaylin K Tsukayama, Anna Y Liu, Changrui Xiao, Samantha Tracy, Miranda K Shipman,[...]. Neuron 2016
48
16

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Cem Sengel, Sophie Gavarini, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg. J Neurochem 2011
24
16

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P Zwaka, Laurie J Ozelius, Robert D Blitzer,[...]. PLoS Genet 2018
40
16

White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment.
Anne J Blood, John K Kuster, Jeff L Waugh, Jacob M Levenstein, Trisha J Multhaupt-Buell, Lewis R Sudarsky, Hans C Breiter, Nutan Sharma. Front Neurol 2019
8
25

Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
Meike E van der Heijden, Dominic J Kizek, Ross Perez, Elena K Ruff, Michelle E Ehrlich, Roy V Sillitoe. J Physiol 2021
6
33

THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes.
Dhananjay Yellajoshyula, Samuel S Pappas, Abigail E Rogers, Biswa Choudhury, Xylena Reed, Jinhui Ding, Mark R Cookson, Vikram G Shakkottai, Roman J Giger, William T Dauer. Proc Natl Acad Sci U S A 2021
3
66

White matter abnormalities in dystonia normalize after botulinum toxin treatment.
Anne J Blood, David S Tuch, Nikos Makris, Miriam L Makhlouf, Lewis R Sudarsky, Nutan Sharma. Neuroreport 2006
50
16

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, Gregor Brandt, Michel Guipponi, Sacha Laurent, Siv Fokstuen, Aurea Moren, André Zacharia, Elisabeth Dirren,[...]. Am J Med Genet A 2020
11
18

The dystonia gene THAP1 controls DNA double-strand break repair choice.
Kenta Shinoda, Dali Zong, Elsa Callen, Wei Wu, Lavinia C Dumitrache, Frida Belinky, Raj Chari, Nancy Wong, Momoko Ishikawa, Andre Stanlie,[...]. Mol Cell 2021
8
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.