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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1987 1
1988 2
1990 1
1992 2
1993 4
1994 2
1995 5
1996 1
1997 2
1998 4
1999 2
2001 2
2002 1
2003 3
2004 2
2005 5
2006 7
2007 19
2008 10
2009 16
2010 19
2011 28
2012 32
2013 31
2014 35
2015 51
2016 44
2017 55
2018 56
2019 72
2020 89
2021 92
2022 109
2023 97
2024 35

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825 results

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The following terms were not found in PubMed: 20childhood, 20obesity
Page 1
Heritable and non-heritable uncommon causes of stroke.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS. Bersano A, et al. J Neurol. 2021 Aug;268(8):2780-2807. doi: 10.1007/s00415-020-09836-x. Epub 2020 Apr 21. J Neurol. 2021. PMID: 32318851 Review.
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated …
Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 muta …
COL4A1-Related Disorders.
Plaisier E, Ronco P. Plaisier E, et al. 2009 Jun 25 [updated 2016 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Jun 25 [updated 2016 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301768 Free Books & Documents. Review.
Most individuals diagnosed with a COL4A1-related disorder have an affected parent. The proportion of cases caused by a de novo pathogenic variant is estimated to be at least 27%. Each child of an individual with a COL4A1-related disorder has a 50% chance of inheriti …
Most individuals diagnosed with a COL4A1-related disorder have an affected parent. The proportion of cases caused by a de novo pathog …
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation. METHODS: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. …
OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation. M …
Apobec1 complementation factor overexpression promotes hepatic steatosis, fibrosis, and hepatocellular cancer.
Blanc V, Riordan JD, Soleymanjahi S, Nadeau JH, Nalbantoglu I, Xie Y, Molitor EA, Madison BB, Brunt EM, Mills JC, Rubin DC, Ng IO, Ha Y, Roberts LR, Davidson NO. Blanc V, et al. J Clin Invest. 2021 Jan 4;131(1):e138699. doi: 10.1172/JCI138699. J Clin Invest. 2021. PMID: 33445170 Free PMC article.
RNA-Seq revealed increased expression of mRNAs involved in oxidative stress (Gstm3, Gpx3, Cbr3), inflammatory response (Il19, Cxcl14, Tnfalpha, Ly6c), extracellular matrix organization (Mmp2, Col1a1, Col4a1), and proliferation (Kif20a, Mcm2, Mcm4, Mcm6), and a subset of mR …
RNA-Seq revealed increased expression of mRNAs involved in oxidative stress (Gstm3, Gpx3, Cbr3), inflammatory response (Il19, Cxcl14, Tnfalp …
Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
George E, Vassar R, Mogga A, Li Y, Norton ME, Gano D, Glenn OA. George E, et al. Pediatr Neurol. 2023 Oct;147:63-67. doi: 10.1016/j.pediatrneurol.2023.07.008. Epub 2023 Jul 18. Pediatr Neurol. 2023. PMID: 37562171 Free article.
Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized. METHODS: This is a retrospective case series of fetal MRI findings in eight patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants, five of who …
Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized. METHODS: This is a retrosp …
Main features of COL4A1-COL4A2 related cerebral microangiopathies.
Guey S, Hervé D. Guey S, et al. Cereb Circ Cogn Behav. 2022 Mar 24;3:100140. doi: 10.1016/j.cccb.2022.100140. eCollection 2022. Cereb Circ Cogn Behav. 2022. PMID: 36324412 Free PMC article.
COL4A1 and COL4A2 genes encode the alpha1 and the alpha2 chains of type IV collagen, a key component of basement membranes. ...This condition is characterized by a very incomplete penetrance, and a wide phenotypic variability even among members of the same family. Recently …
COL4A1 and COL4A2 genes encode the alpha1 and the alpha2 chains of type IV collagen, a key component of basement membranes. ...This c …
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. Yamasaki E, et al. Proc Natl Acad Sci U S A. 2023 Jan 31;120(5):e2217327120. doi: 10.1073/pnas.2217327120. Epub 2023 Jan 24. Proc Natl Acad Sci U S A. 2023. PMID: 36693102 Free PMC article.
Gould syndrome is a rare multisystem disorder resulting from autosomal dominant mutations in the collagen-encoding genes COL4A1 and COL4A2. Human patients and Col4a1 mutant mice display brain pathology that typifies cerebral small vessel diseases (cSVDs), including …
Gould syndrome is a rare multisystem disorder resulting from autosomal dominant mutations in the collagen-encoding genes COL4A1 and C …
Cognitive aspects of MELAS and CARASAL.
Canavero I, Rifino N, Montano V, Pantoni L, Gatti L, Pollaci G, Potenza A, Carrozzini T, Finsterer J, Bersano A. Canavero I, et al. Cereb Circ Cogn Behav. 2022 Mar 21;3:100139. doi: 10.1016/j.cccb.2022.100139. eCollection 2022. Cereb Circ Cogn Behav. 2022. PMID: 36324419 Free PMC article. Review.
Monogenic diseases, although rare, should be always considered in the diagnostic work up of vascular dementia (VaD), particularly in patients with early onset and a familial history of dementia or cerebrovascular disease. They include, other than CADASIL, Fabry disease, Col4A1 …
Monogenic diseases, although rare, should be always considered in the diagnostic work up of vascular dementia (VaD), particularly in patient …
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. Thakore P, et al. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2306479120. doi: 10.1073/pnas.2306479120. Epub 2023 Aug 22. Proc Natl Acad Sci U S A. 2023. PMID: 37607233 Free PMC article.
Neurovascular coupling (NVC), a vital physiological process that rapidly and precisely directs localized blood flow to the most active regions of the brain, is accomplished in part by the vast network of cerebral capillaries acting as a sensory web capable of detecting increases …
Neurovascular coupling (NVC), a vital physiological process that rapidly and precisely directs localized blood flow to the most active regio …
825 results