A citation-based method for searching scientific literature

Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G Chen, Mary Kay Koenig, Rhamat B Adejumo, Marianne Till, Michael Harbord, Renee Perrier, Emmanuelle Lemyre, Renee-Myriam Boucher, Brian G Skotko, Jessica L Waxler, Mary Ann Thomas, Jennelle C Hodge, Jozef Gecz, Jillian Nicholl, Lesley McGregor, Tobias Linden, Sanjay M Sisodiya, Damien Sanlaville, Sau W Cheung, Carl Ernst, Philippe M Campeau. Genet Med 2019
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattea J Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Stražišar, J Lloyd Holder, Gaetan Lesca,[...]. Neurology 2016
59
54

The genetic basis of DOORS syndrome: an exome-sequencing study.
Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Mutsuki Hori, Berkley R Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende,[...]. Lancet Neurol 2014
82
45

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Baptiste Fischer, Kevin Lüthy, Jone Paesmans, Charlotte De Koninck, Ine Maes, Jef Swerts, Sabine Kuenen, Valerie Uytterhoeven, Patrik Verstreken, Wim Versées. Nat Struct Mol Biol 2016
35
45

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Mattéa J Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew Bassett,[...]. Hum Mol Genet 2019
15
45

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti,[...]. Am J Hum Genet 2010
105
36

Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins.
Valerie Uytterhoeven, Sabine Kuenen, Jaroslaw Kasprowicz, Katarzyna Miskiewicz, Patrik Verstreken. Cell 2011
137
36

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Luping Zhang, Lingxiang Hu, Yongchuan Chai, Xiuhong Pang, Tao Yang, Hao Wu. Hum Mutat 2014
33
27

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.
Antonio Falace, Emmanuelle Buhler, Manuela Fadda, Françoise Watrin, Pellegrino Lippiello, Emilie Pallesi-Pocachard, Pietro Baldelli, Fabio Benfenati, Federico Zara, Alfonso Represa,[...]. Proc Natl Acad Sci U S A 2014
65
27

Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.
Ana Clara Fernandes, Valerie Uytterhoeven, Sabine Kuenen, Yu-Chun Wang, Jan R Slabbaert, Jef Swerts, Jaroslaw Kasprowicz, Stein Aerts, Patrik Verstreken. J Cell Biol 2014
57
27

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Mark A Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E Gardner, Karen L Oliver, Stanley Tan, Amy Coffey, John C Mulley, Leanne M Dibbens,[...]. Am J Hum Genet 2010
94
27

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, Meghan C Drummond, Taku Ito, Kwanghyuk Lee, Asma A Khan, Muhammad Asim R Basra, Naveed Wasif, Muhammad Ayub,[...]. Am J Hum Genet 2014
54
27



Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both,[...]. F1000Res 2017
15
27


TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Kevin Lüthy, Davide Mei, Baptiste Fischer, Maurizio De Fusco, Jef Swerts, Jone Paesmans, Elena Parrini, Naomi Lubarr, Inge A Meijer, Katherine M Mackenzie,[...]. Brain 2019
17
27

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.
Danique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, Yvonne J Vos, Birgit Sikkema-Raddatz, Conny M A van Ravenswaaij-Arts, Oebele F Brouwer. Eur J Paediatr Neurol 2016
28
18

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, Felicitas Becker, Hiltrud Muhle, Arvid Suls, Johannes R Lemke, Carolien G F de Kovel,[...]. Nat Genet 2014
106
18

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.
Xin-Ming Shen, Duygu Selcen, Joan Brengman, Andrew G Engel. Neurology 2014
73
18

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Philippe M Campeau, Raoul C Hennekam. Am J Med Genet C Semin Med Genet 2014
26
18

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
42
18

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Anna Fassio, Lysanne Patry, Sonia Congia, Franco Onofri, Amelie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranchi, Manuela Fadda,[...]. Hum Mol Genet 2011
136
18

The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress.
Mattéa J Finelli, Luis Sanchez-Pulido, Kevin X Liu, Kay E Davies, Peter L Oliver. J Biol Chem 2016
31
18

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Barbara Gnidovec Stražišar, David Neubauer, Darja Paro Panjan, Karin Writzl. Eur J Paediatr Neurol 2015
18
18

Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse.
Erica Tagliatti, Manuela Fadda, Antonio Falace, Fabio Benfenati, Anna Fassio. Elife 2016
26
18

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
121
18

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Reymundo Lozano, Kristin Herman, Melanie Rothfuss, Hillary Rieger, Pinar Bayrak-Toydemir, Davide Aprile, Floriana Fruscione, Federico Zara, Anna Fassio. Am J Med Genet A 2016
12
18

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Hela Azaiez, Kevin T Booth, Fengxiao Bu, Patrick Huygen, Seiji B Shibata, A Eliot Shearer, Diana Kolbe, Nicole Meyer, E Ann Black-Ziegelbein, Richard J H Smith. Hum Mutat 2014
57
18

Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.
Nadire Duru, Sibel Aylin Ugur Iseri, Nilgün Selçuk, Aslıhan Tolun. J Neurogenet 2010
8
25

TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration.
Jaeho Yoon, Yoo-Seok Hwang, Moonsup Lee, Jian Sun, Hee Jun Cho, Laura Knapik, Ira O Daar. Nat Commun 2018
16
18

Illuminating the functional and structural repertoire of human TBC/RABGAPs.
Marieke A M Frasa, Katja T Koessmeier, M Reza Ahmadian, Vania M M Braga. Nat Rev Mol Cell Biol 2012
111
18

Modification of seizure activity by electrical stimulation. II. Motor seizure.
R J Racine. Electroencephalogr Clin Neurophysiol 1972
18

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Davide Aprile, Floriana Fruscione, Simona Baldassari, Manuela Fadda, Daniele Ferrante, Antonio Falace, Emmanuelle Buhler, Jacopo Sartorelli, Alfonso Represa, Pietro Baldelli,[...]. Cell Death Differ 2019
6
33

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Risa Tona, Wenqian Chen, Yoko Nakano, Laura D Reyes, Ronald S Petralia, Ya-Xian Wang, Matthew F Starost, Talah T Wafa, Robert J Morell, Kevin D Cravedi,[...]. Hum Mol Genet 2019
10
20

PDK1-Akt pathway regulates radial neuronal migration and microtubules in the developing mouse neocortex.
Yasuhiro Itoh, Maiko Higuchi, Koji Oishi, Yusuke Kishi, Tomohiko Okazaki, Hiroshi Sakai, Takaki Miyata, Kazunori Nakajima, Yukiko Gotoh. Proc Natl Acad Sci U S A 2016
32
18

Conditional Deletion of PDK1 in the Forebrain Causes Neuron Loss and Increased Apoptosis during Cortical Development.
Congyu Xu, Linjie Yu, Jinxing Hou, Rosemary J Jackson, He Wang, Chaoli Huang, Tingting Liu, Qihui Wang, Xiaochuan Zou, Richard G Morris,[...]. Front Cell Neurosci 2017
10
20

Cell type specificity of PI3K signaling in Pdk1- and Pten-deficient brains.
Nader Chalhoub, Guo Zhu, Xiaoyan Zhu, Suzanne J Baker. Genes Dev 2009
59
18

PDK1 Deficit Impairs the Development of the Dentate Gyrus in Mice.
Min Xu, Xiaoning Han, Rui Liu, Yanjun Li, Cui Qi, Zhongzhou Yang, Chunjie Zhao, Jun Gao. Cereb Cortex 2019
6
33

Mutation of the 3-Phosphoinositide-Dependent Protein Kinase 1 (PDK1) Substrate-Docking Site in the Developing Brain Causes Microcephaly with Abnormal Brain Morphogenesis Independently of Akt, Leading to Impaired Cognition and Disruptive Behaviors.
Lluís Cordón-Barris, Sònia Pascual-Guiral, Shaobin Yang, Lydia Giménez-Llort, Silvia Lope-Piedrafita, Carlota Niemeyer, Enrique Claro, Jose M Lizcano, Jose R Bayascas. Mol Cell Biol 2016
16
18

Essential role of PDK1 in regulating cell size and development in mice.
Margaret A Lawlor, Alfonso Mora, Peter R Ashby, Michayla R Williams, Victoria Murray-Tait, Lorraine Malone, Alan R Prescott, John M Lucocq, Dario R Alessi. EMBO J 2002
244
18

The interferon-inducible isoform of NCOA7 inhibits endosome-mediated viral entry.
Tomas Doyle, Olivier Moncorgé, Boris Bonaventure, Darja Pollpeter, Marion Lussignol, Marine Tauziet, Luis Apolonia, Maria-Teresa Catanese, Caroline Goujon, Michael H Malim. Nat Microbiol 2018
20
18

Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.
Maria Merkulova, Teodor G Păunescu, Anil V Nair, Chia-Yu Wang, Diane E Capen, Peter L Oliver, Sylvie Breton, Dennis Brown. Am J Physiol Renal Physiol 2018
8
25

Structure of V-ATPase from the mammalian brain.
Yazan M Abbas, Di Wu, Stephanie A Bueler, Carol V Robinson, John L Rubinstein. Science 2020
30
18

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker,[...]. Brain 2018
29
18

Mapping the H(+) (V)-ATPase interactome: identification of proteins involved in trafficking, folding, assembly and phosphorylation.
Maria Merkulova, Teodor G Păunescu, Anie Azroyan, Vladimir Marshansky, Sylvie Breton, Dennis Brown. Sci Rep 2015
48
18

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici,[...]. Nat Genet 2015
110
18

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou,[...]. Neurology 2014
143
18

Mutation of the PDK1 PH domain inhibits protein kinase B/Akt, leading to small size and insulin resistance.
Jose R Bayascas, Stephan Wullschleger, Kei Sakamoto, Juan M García-Martínez, Carol Clacher, David Komander, Daan M F van Aalten, Krishna M Boini, Florian Lang, Christopher Lipina,[...]. Mol Cell Biol 2008
91
18

ff14SB: Improving the Accuracy of Protein Side Chain and Backbone Parameters from ff99SB.
James A Maier, Carmenza Martinez, Koushik Kasavajhala, Lauren Wickstrom, Kevin E Hauser, Carlos Simmerling. J Chem Theory Comput 2015
9

Dynamics of the mouse brain cortical synaptic proteome during postnatal brain development.
Miguel A Gonzalez-Lozano, Patricia Klemmer, Titia Gebuis, Chopie Hassan, Pim van Nierop, Ronald E van Kesteren, August B Smit, Ka Wan Li. Sci Rep 2016
34
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.