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



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  Times     Co-cited
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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Marije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, Maarten H Lequin, Jan M Cobben, René de Coo, Jeske van Harssel, Suzanne Sallevelt, Gwendolyn Woldringh, Marjo S van der Knaap,[...]. Genet Med 2015
125
44

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Douglas B Gould, F Campbell Phalan, Guido J Breedveld, Saskia E van Mil, Richard S Smith, John C Schimenti, Umberto Aguglia, Marjo S van der Knaap, Peter Heutink, Simon W M John. Science 2005
341
40

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Emmanuelle Plaisier, Olivier Gribouval, Sonia Alamowitch, Béatrice Mougenot, Catherine Prost, Marie Christine Verpont, Béatrice Marro, Thomas Desmettre, Salomon Yves Cohen, Etienne Roullet,[...]. N Engl J Med 2007
216
30

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Douglas B Gould, F Campbell Phalan, Saskia E van Mil, John P Sundberg, Katayoun Vahedi, Pascale Massin, Marie Germaine Bousser, Peter Heutink, Jeffrey H Miner, Elisabeth Tournier-Lasserve,[...]. N Engl J Med 2006
344
28

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Debbie S Kuo, Cassandre Labelle-Dumais, Douglas B Gould. Hum Mol Genet 2012
158
26

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Sara Zagaglia, Christina Selch, Jelena Radic Nisevic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, S Krithika, Katharina Vezyroglou, Sophia M Varadkar, Alexander Pepler,[...]. Neurology 2018
52
26

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato, Hitoshi Osaka, Kenji Yokochi, Hiroshi Arai, Akiyoshi Kakita, Takamichi Yamamoto, Yoshiro Otsuki, Shin-ichi Shimizu,[...]. Ann Neurol 2013
99
24



Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.
Mao Mao, Marcel V Alavi, Cassandre Labelle-Dumais, Douglas B Gould. Curr Top Membr 2015
42
23

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Igor Sibon, Isabelle Coupry, Patrice Menegon, Jean-Pierre Bouchet, Philippe Gorry, Ingrid Burgelin, Patrick Calvas, Isabelle Orignac, Vincent Dousset, Didier Lacombe,[...]. Ann Neurol 2007
101
20

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Cassandre Labelle-Dumais, David J Dilworth, Emily P Harrington, Michelle de Leau, David Lyons, Zhyldyz Kabaeva, M Chiara Manzini, William B Dobyns, Christopher A Walsh, Daniel E Michele,[...]. PLoS Genet 2011
94
20

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
Kristiina Rannikmäe, Gail Davies, Pippa A Thomson, Steve Bevan, William J Devan, Guido J Falcone, Matthew Traylor, Christopher D Anderson, Thomas W K Battey, Farid Radmanesh,[...]. Neurology 2015
75
20

Mammalian collagen IV.
Jamshid Khoshnoodi, Vadim Pedchenko, Billy G Hudson. Microsc Res Tech 2008
382
18

Childhood presentation of COL4A1 mutations.
Siddharth Shah, Sian Ellard, Rachel Kneen, Ming Lim, Nigel Osborne, Julia Rankin, Neil Stoodley, Marjo van der Knaap, Andrea Whitney, Philip Jardine. Dev Med Child Neurol 2012
49
18

Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development.
Ernst Pöschl, Ursula Schlötzer-Schrehardt, Bent Brachvogel, Kenji Saito, Yoshifumi Ninomiya, Ulrike Mayer. Development 2004
507
18

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.
Tom Van Agtmael, Ursula Schlötzer-Schrehardt, Lisa McKie, David G Brownstein, Angela W Lee, Sally H Cross, Yoshikazu Sado, John J Mullins, Ernst Pöschl, Ian J Jackson. Hum Mol Genet 2005
107
16


Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Edgard Verdura, Dominique Hervé, Françoise Bergametti, Clémence Jacquet, Typhaine Morvan, Carol Prieto-Morin, Alexandre Mackowiak, Eric Manchon, Hassan Hosseini, Charlotte Cordonnier,[...]. Ann Neurol 2016
41
19

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
16

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
Douglas B Gould, Jeffrey K Marchant, Olga V Savinova, Richard S Smith, Simon W M John. Hum Mol Genet 2007
93
14

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
Zhiyong Chen, Tiffany Migeon, Marie-Christine Verpont, Mohamad Zaidan, Yoshikazu Sado, Dontscho Kerjaschki, Pierre Ronco, Emmanuelle Plaisier. J Am Soc Nephrol 2016
27
25

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
Debbie S Kuo, Cassandre Labelle-Dumais, Mao Mao, Marion Jeanne, William B Kauffman, Jennifer Allen, Jack Favor, Douglas B Gould. Hum Mol Genet 2014
41
17

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Marion Jeanne, Cassandre Labelle-Dumais, Jeff Jorgensen, W Berkeley Kauffman, Grazia M Mancini, Jack Favor, Valerie Valant, Steven M Greenberg, Jonathan Rosand, Douglas B Gould. Am J Hum Genet 2012
116
14

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
R J Vermeulen, C Peeters-Scholte, J J M Van Vugt, F Barkhof, P Rizzu, S R D van der Schoor, M S van der Knaap. Neuropediatrics 2011
43
16

Ophthalmological features associated with COL4A1 mutations.
Isabelle Coupry, Igor Sibon, Bruno Mortemousque, François Rouanet, Manuele Mine, Cyril Goizet. Arch Ophthalmol 2010
40
15

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Elisa Giorgio, Giovanna Vaula, Giovanni Bosco, Sara Giacone, Cecilia Mancini, Alessandro Calcia, Simona Cavalieri, Eleonora Di Gregorio, Roberta Rigault De Longrais, Sabrina Leombruni,[...]. J Neurol Sci 2015
13
46

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Eyvind Rødahl, Per M Knappskog, Jacek Majewski, Stefan Johansson, Wenche Telstad, Jostein Kråkenes, Helge Boman. Am J Ophthalmol 2013
19
31

ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.
Frances E Jones, Matthew A Bailey, Lydia S Murray, Yinhui Lu, Sarah McNeilly, Ursula Schlötzer-Schrehardt, Rachel Lennon, Yoshikazu Sado, David G Brownstein, John J Mullins,[...]. Dis Model Mech 2016
21
28

The nature and biology of basement membranes.
Ambra Pozzi, Peter D Yurchenco, Renato V Iozzo. Matrix Biol 2017
228
12

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Lydia S Murray, Yinhui Lu, Aislynn Taggart, Nicole Van Regemorter, Catheline Vilain, Marc Abramowicz, Karl E Kadler, Tom Van Agtmael. Hum Mol Genet 2014
39
15

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
S Alamowitch, E Plaisier, P Favrole, C Prost, Z Chen, T Van Agtmael, B Marro, P Ronco. Neurology 2009
87
12

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Edgard Verdura, Dominique Hervé, Eva Scharrer, Maria Del Mar Amador, Lucie Guyant-Maréchal, Anne Philippi, Astrid Corlobé, Françoise Bergametti, Steven Gazal, Carol Prieto-Morin,[...]. Brain 2015
106
12

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.
Frances E Jones, Lydia S Murray, Sarah McNeilly, Afshan Dean, Alisha Aman, Yinhui Lu, Nija Nikolova, Ruben Malomgré, Karen Horsburgh, William M Holmes,[...]. Hum Mol Genet 2019
13
46

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Cassandre Labelle-Dumais, Vera Schuitema, Genki Hayashi, Kendall Hoff, Wenhui Gong, Dang Q Dao, Erik M Ullian, Peter Oishi, Marta Margeta, Douglas B Gould. Am J Hum Genet 2019
20
30

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
A Joutel, C Corpechot, A Ducros, K Vahedi, H Chabriat, P Mouton, S Alamowitch, V Domenga, M Cécillion, E Marechal,[...]. Nature 1996
12

Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.
Marcel V Alavi, Mao Mao, Bradley T Pawlikowski, Manana Kvezereli, Jacque L Duncan, Richard T Libby, Simon W M John, Douglas B Gould. Sci Rep 2016
26
19



HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier. Am J Pathol 2017
18
27

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
Emmanuelle Plaisier, Zhiyong Chen, Florian Gekeler, Safa Benhassine, Karine Dahan, Béatrice Marro, Sonia Alamowitch, Michel Paques, Pierre Ronco. Am J Med Genet A 2010
66
10

Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.
Matthew Traylor, Cathy R Zhang, Poneh Adib-Samii, William J Devan, Owen E Parsons, Silvia Lanfranconi, Sarah Gregory, Lisa Cloonan, Guido J Falcone, Farid Radmanesh,[...]. Neurology 2016
65
10

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.
Kristiina Rannikmäe, Vhinoth Sivakumaran, Henry Millar, Rainer Malik, Christopher D Anderson, Mike Chong, Tushar Dave, Guido J Falcone, Israel Fernandez-Cadenas, Jordi Jimenez-Conde,[...]. Neurology 2017
42
11

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
J Livingston, D Doherty, S Orcesi, D Tonduti, A Piechiecchio, R La Piana, E Tournier-Lasserve, A Majumdar, S Tomkins, G Rice,[...]. Neuropediatrics 2011
31
16

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
Marjo S van der Knaap, Leo M E Smit, Frederik Barkhof, Yolande A L Pijnenburg, Sonja Zweegman, Hans W M Niessen, Saskia Imhof, Peter Heutink. Ann Neurol 2006
96
10


Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Rainer Malik, Ganesh Chauhan, Matthew Traylor, Muralidharan Sargurupremraj, Yukinori Okada, Aniket Mishra, Loes Rutten-Jacobs, Anne-Katrin Giese, Sander W van der Laan, Solveig Gretarsdottir,[...]. Nat Genet 2018
526
10

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
G Breedveld, I F de Coo, M H Lequin, W F M Arts, P Heutink, D B Gould, S W M John, B Oostra, G M S Mancini. J Med Genet 2006
111
10

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
M E C Meuwissen, L S de Vries, H A Verbeek, M H Lequin, P P Govaert, R Schot, F M Cowan, R Hennekam, P Rizzu, F W Verheijen,[...]. Neurology 2011
41
12

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato,[...]. Am J Hum Genet 2012
57
10


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.