| 1 | CADASIL, NOTCH3
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| CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.
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| Tikka S, Ng YP, Di Maio G, Mykkänen K, Siitonen M, Lepikhova T, Pöyhönen M, Viitanen M, Virtanen I, Kalimo H, Baumann M.
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| J Cereb Blood Flow Metab 32(12):2171-80. doi: 10.1038/jcbfm.2012.123. Epub 2012 Sep 5.
2012
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| 2 | CADASIL, NOTCH3
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| Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.
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| Duering M, Karpinska A, Rosner S, Hopfner F, Zechmeister M, Peters N, Kremmer E, Haffner C, Giese A, Dichgans M, Opherk C.
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| Hum Mol Genet 20(16):3256-65. Epub 2011 May 30.
2011
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| 3 | CADASIL, NOTCH3
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| Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).
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| Ragno M, Pianese L, Pinelli M, Silvestri S, Cacchiò G, Di Marzio F, Scarcella M, Coretti F, Altamura F, Monticelli A, Castaldo I.
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| Neurogenetics 12(4):337-43. doi: 10.1007/s10048-011-0298-1. Epub 2011 Sep 1.
2011
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| 4 | CADASIL, NOTCH3
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| Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.
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| Takahashi K, Adachi K, Yoshizaki K, Kunimoto S, Kalaria RN, Watanabe A.
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| Hum Mol Genet 19(1):79-89. Epub .PMID: 19825845 2010
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| 5 | CADASIL, NOTCH3
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| CADASIL mutations enhance spontaneous multimerization of NOTCH3.
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| Opherk C, Duering M, Peters N, Karpinska A, Rosner S, Schneider E, Bader B, Giese A, Dichgans M.
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| Hum Mol Genet 18(15):2761-7. Epub 2009 May 5.
2009
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| 6 | CADASIL, NOTCH3
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| Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: a new disease entity?
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| Hirabayashi S, Wada T, Kondo Y, Arima K.
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| Brain Dev 30(2):146-50. Epub 2007 Jul 25.PMID: 17656057 2008
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| 7 | CADASIL
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| Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration.
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| Manganelli F, Ragno M, Cacchiò G, Iodice V, Trojano L, Silvaggio F, Scarcella M, Grazioli M, Santoro L, Perretti A.
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| Clin Neurophysiol 119(2):351-5. Epub 2007 Dec 11.PMID: 18065265 2008
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| 8 | CADASIL, NOTCH3
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| A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.
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| Pescini F, Bianchi S, Salvadori E, Poggesi A, Dotti MT, Federico A, Inzitari D, Pantoni L.
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| J Neurol Sci 267(1-2):170-3. Epub 2007 Nov 19.PMID: 18022198 2008
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| 9 | CADASIL, NOTCH3
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| Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene.
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| Pradotto L, Azan G, Doriguzzi C, Valentini C, Mauro A.
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| J Neurol Sci 271(1-2):207-10. Epub 2008 May 21.
2008
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| 10 | CADASIL, HMID, NOTCH3
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| Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.
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| Low WC, Junna M, Börjesson-Hanson A, Morris CM, Moss TH, Stevens DL, St Clair D, Mizuno T, Zhang WW, Mykkänen K, Wahlstrom J, Andersen O, Kalimo H, Viitanen M, Kalaria RN.
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| Brain 130(Pt 2):357-67. 2007
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| 11 | CADASIL, NOTCH3
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| Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL.
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| Viswanathan A, Gschwendtner A, Guichard JP, Buffon F, Cumurciuc R, O'Sullivan M, Holtmannspötter M, Pachai C, Bousser MG, Dichgans M, Chabriat H.
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| Neurology 69(2):172-9.
2007
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| 12 | NOTCH3, CADASIL
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| CADASIL mutations impair Notch3 glycosylation by Fringe.
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| Arboleda-Velasquez JF, Rampal R, Fung E, Darland DC, Liu M, Martinez MC, Donahue CP, Navarro-Gonzalez MF, Libby P, D'Amore PA, Aikawa M, Haltiwanger RS, Kosik KS.
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| Hum Mol Genet 14(12):1631-9. Epub 2005 Apr 27. 2005
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| 13 | NOTCH3, CADASIL
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| Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
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| Tang SC, Lee MJ, Jeng JS, Yip PK.
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| J Neurol Sci 228(2):125-8. Epub 2004 Dec 24. 2005
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| 14 | CADASIL, NOTCH3, JAG1
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| Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Signaling Pathway.
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| Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E.
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| Am J Hum Genet 74(2):338-47. Epub 2004 Jan 08. 2004
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| 15 | CADASIL, NOTCH3
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| Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL.
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| Donahue CP, Kosik KS.
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| Genomics 83(1):59-65. 2004
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| 16 | NOTCH3, CADASIL
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| Detection of the founder effect in Finnish CADASIL families.
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| Mykkanen K, Savontaus ML, Juvonen V, Sistonen P, Tuisku S, Tuominen S, Penttinen M, Lundkvist J, Viitanen M, Kalimo H, Poyhonen M.
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| Eur J Hum Genet 12(10):813-9. 2004
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| 17 | CADASIL, DLL1, Dll3, DLL4, JAG1, JAG2, NOTCH1, NOTCH2, NOTCH3, NOTCH4 , RBPJ, SCDO1
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| Notch signaling and inherited disease syndromes.
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| Gridley T.
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| Hum Mol Genet 12 Spec No 1:R9-13. Review. 2003
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| 18 | CADASIL, NOTCH3
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| Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
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| Santa Y, Uyama E, Chui de H, Arima M, Kotorii S, Takahashi K, Tabira T.
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| J Neurol Sci 212(1-2):79-84. 2003
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| 19 | CADASIL, NOTCH3
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| A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.
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| Finnila S, Tuisku S, Herva R, Majamaa K.
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| J Mol Med 79(11):641-7. 2001
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| 20 | CADASIL, NOTCH3
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| Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
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| Oberstein SA, et al.
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| Neurology 52(9):1913-5. 1999
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| 21 | CADASIL, NOTCH3
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| Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
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| Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, Bach JF, Tournier-Lasserve E.
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| Lancet 350(9090):1511-5. 1997
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| 22 | CADASIL
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| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.
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| Ducros A, et al.
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| Am J Hum Genet 58 : 171-181. 1996
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| 23 | CADASIL
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| Identification of a key recombinant narrows the CADASIL gene region to 8cM and argues against allelism of CADASIL and familial hemiplegic migraine.
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| Dichgans M, et al.
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| Genomics 32 : 151-154. 1996
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| 24 | CADASIL, NOTCH3
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| Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
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| Joutel A, et al.
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| Nature 383 : 707-710. 1996
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| 25 | CADASIL
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| An additional monogenic disorder that masquerades as multiple sclerosis.
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| Vahedi K, et al.
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| Am J Med Genet 65 : 357-358. 1996
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| 26 | CADASIL, MAWMA
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| Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus.
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| Chabriat H, et al.
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| Neurology 45 : 1086-1091. 1995
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| 27 | CADASIL
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| Clinical spectrum of CADASIL : a study of 7 families.
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| Chabriat H, et al.
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| Lancet 346 : 934-939. 1995
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| 28 | CADASIL, MHP1
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| Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL).
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| Hutchinson M, et al.
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| Ann Neurol 38 : 817-824. 1995
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| 29 | CADASIL
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| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy : a clinicopathological and genetic study of a Swiss family.
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| Jung HH, et al.
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| J Neurol Neurosurg Psychiatry 59 : 138-143. 1995
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| 30 | CADASIL
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| New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19 : migraine as the prominent clinical feature.
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| VŽrin M, et al.
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| J Neurol Neurosurg Psychiatry 59 : 579-585. 1995
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| 31 | CADASIL
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| Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree : evidence of probable locus heterogeneity.
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| St Clair D, et al.
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| J Med Genet 32 : 57-60. 1995
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| 32 | CADASIL
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| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family.
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| Sabbadini G, et al.
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| Brain 118 : 207-215. 1995
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| 33 | CADASIL, MHP1
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| Familial migraine : exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p.
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| Hovatta I, et al.
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| Genomics 23 : 707-709. 1994
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| 34 | CADASIL
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| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.
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| Tournier-Lasserve E, et al.
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| Nat Genet 3 : 256-259. 1993
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