A citation-based method for searching scientific literature

Sinem Tunc, Marija Dulovic-Mahlow, Hauke Baumann, Magdalena Khira Baaske, Magdalena Jahn, Johanna Junker, Alexander Münchau, Norbert Brüggemann, Katja Lohmann. Cerebellum 2019
Times Cited: 7







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



Times Cited
  Times     Co-cited
Similarity


Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley,[...]. PLoS Genet 2011
137
57

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
210
57

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.
Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, Saad AlShahwan, Kalthoum Tlili, Khaled Hundallah, Brahim Tabarki. Pediatr Neurol 2017
13
57

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci,[...]. Nat Genet 2015
152
42

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlke. Eur J Hum Genet 2010
39
42

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
Laszlo Szpisjak, Viola L Nemeth, Noemi Szepfalusi, Denes Zadori, Zoltan Maroti, Tibor Kalmar, Laszlo Vecsei, Peter Klivenyi. Cerebellum 2017
6
50

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Zuzana Musova, Michaela Kaiserova, Eva Kriegova, Regina Fillerova, Peter Vasovcak, Alena Santava, Katerina Mensikova, Alena Zumrova, Anna Krepelova, Zdenek Sedlacek,[...]. Cerebellum 2014
15
42

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà,[...]. Eur J Neurol 2020
27
28

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro,[...]. J Med Genet 2019
10
28

Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.
Cristina Puchades, Bojian Ding, Albert Song, R Luke Wiseman, Gabriel C Lander, Steven E Glynn. Mol Cell 2019
29
28

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
26
28

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
77
28

New roles for mitochondrial proteases in health, ageing and disease.
Pedro M Quirós, Thomas Langer, Carlos López-Otín. Nat Rev Mol Cell Biol 2015
284
28

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Katrien Smets, Tine Deconinck, Jonathan Baets, Anne Sieben, Jean-Jacques Martin, Iris Smouts, Shuaiyu Wang, Franco Taroni, Daniela Di Bella, Wim Van Hecke,[...]. Neurology 2014
19
28

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
28

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L Margolis, Susan E Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan,[...]. Hum Mutat 2010
59
28

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
28

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.
Mark Nolden, Sarah Ehses, Mirko Koppen, Andrea Bernacchia, Elena I Rugarli, Thomas Langer. Cell 2005
276
28

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, Emma L Blakely, Marzena Kurzawa-Akanbi, Jessica Gabriel, Kamil Sitarz, Mark Roberts, Benedikt Schoser, Angela Pyle,[...]. JAMA Neurol 2015
25
28

Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
136
28

m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.
Maria Patron, Hans-Georg Sprenger, Thomas Langer. Cell Res 2018
45
14

Homeodomain-DNA recognition.
W J Gehring, Y Q Qian, M Billeter, K Furukubo-Tokunaga, A F Schier, D Resendez-Perez, M Affolter, G Otting, K Wüthrich. Cell 1994
656
14

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Imen Dorboz, Chiara Aiello, Cas Simons, Robert Thompson Stone, Marcello Niceta, Monique Elmaleh, Mohammad Abuawad, Diane Doummar, Alessandro Bruselles, Nicole I Wolf,[...]. Brain 2017
12
14

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Cynthia V Bourassa, Inge A Meijer, Nancy D Merner, Kanwal K Grewal, Mark G Stefanelli, Kathleen Hodgkinson, Elizabeth J Ives, William Pryse-Phillips, Mandar Jog, Kym Boycott,[...]. Am J Hum Genet 2012
32
14

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Valeria Dibilio, Francesca Cavalcanti, Alessandra Nicoletti, Giovanni Mostile, Elisa Bruno, Grazia Annesi, Patrizia Tarantino, Monica Gagliardi, Antonio Gambardella, Aldo Quattrone,[...]. Cerebellum 2013
3
33

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Muhammad Umair, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Elisabeth Graf, Asmat Ullah, Farooq Ahmad, Tim M Strom, Thomas Meitinger,[...]. Pediatr Res 2017
15
14

Mutations in SACS cause atypical and late-onset forms of ARSACS.
J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, E Schmedding, P Santens, V Milic Rasic, P Van Damme,[...]. Neurology 2010
75
14

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu,[...]. PLoS Biol 2012
114
14

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Muhammad Umair, Annum Hassan, Abid Jan, Farooq Ahmad, Muhammad Imran, Muhammad I Samman, Sulman Basit, Wasim Ahmad. J Hum Genet 2016
21
14

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
20
14

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
V Chelban, M Alsagob, K Kloth, A Chirita-Emandi, J Vandrovcova, R Maroofian, I Davagnanam, S Bakhtiari, M D AlSayed, Z Rahbeeni,[...]. Eur J Neurol 2020
6
16

Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Andrew H Crosby, Heema Patel, Barry A Chioza, Christos Proukakis, Kay Gurtz, Michael A Patton, Reza Sharifi, Gaurav Harlalka, Michael A Simpson, Katherine Dick,[...]. Am J Hum Genet 2010
55
14

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
Muhammad Umair, Naveed Wasif, Alia M Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit. Mol Genet Genomic Med 2019
9
14

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus, Koenraad Devriendt. Eur J Hum Genet 2008
32
14

Expanding the genetic heterogeneity of intellectual disability.
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T Asi, Saud Alsahli, Amal Alhashem, Hanan E Shamseldin, Fatema AlZahrani, Nisha Patel, Niema Ibrahim,[...]. Hum Genet 2017
67
14

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel. Tremor Other Hyperkinet Mov (N Y) 2019
2
50

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
Raja A H Kuchay, Yaser Rafiq Mir, Xue Zeng, Asima Hassan, Javed Musarrat, Iqbal Parwez, Christoph Kernstock, Andreas Traschütz, Matthis Synofzik. Cerebellum 2019
11
14

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo,[...]. Neurol Genet 2018
15
14

Ataxia.
Tetsuo Ashizawa, Guangbin Xia. Continuum (Minneap Minn) 2016
23
14

Myelin abnormalities in mice deficient in galactocerebroside and sulfatide.
J L Dupree, T Coetzee, K Suzuki, B Popko. J Neurocytol 1998
57
14

CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure.
Cherie Southwood, Chris He, James Garbern, John Kamholz, Edgardo Arroyo, Alexander Gow. J Neurosci 2004
59
14


A novel SACS gene mutation in a Tunisian family.
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
9
14

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.
Ashleigh E Schaffer, Kristine K Freude, Shelley B Nelson, Maike Sander. Dev Cell 2010
173
14



A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.
I A Meijer, C K Hand, K K Grewal, M G Stefanelli, E J Ives, G A Rouleau. Am J Hum Genet 2002
20
14

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice,[...]. J Med Genet 2014
39
14

Expanding the clinical and genetic spectra of NKX6-2-related disorder.
C Baldi, A M Bertoli-Avella, N Al-Sannaa, M Alfadhel, K Al-Thihli, S Alameer, A A Elmonairy, A M Al Shamsi, H A Abdelrahman, L Al-Gazali,[...]. Clin Genet 2018
6
16

Co-localization of Nkx6.2 and Nkx2.2 homeodomain proteins in differentiated myelinating oligodendrocytes.
Jun Cai, Qiang Zhu, Kang Zheng, Hong Li, Yingchuan Qi, Qilin Cao, Mengsheng Qiu. Glia 2010
62
14


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.