TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

Authors: Foddis, Marco, Blumenau, Sonja, Holtgrewe, Manuel, Paquette, Kimberly, Westra, Kaitlyn, Alonso, Isabel, Macario, Maria do Carmo, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Santos, Mariana, Guven, Gamze, Bilgic, Basar, Bras, Jose, Beule, Dieter, Dirnagl, Ulrich, Guerreiro, Rita, Sassi, Celeste

Source: NEUROBIOLOGY OF AGING. 123:208-215

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179862930.0x000001&indx=1&recIds=ETOCvdc_100179862930.0x000001

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Authors: Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Myllykangas, Liisa, Pöyhönen, Minna

Source: Acta neurologica Scandinavica. 146(5):643-651

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100162925850.0x000001&indx=1&recIds=ETOCvdc_100162925850.0x000001

Genetic analysis reveals novel variants for vascular cognitive impairment

Authors: Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Bras, Jose, Roine, Susanna, Pöyhönen, Minna, Guerreiro, Rita, Myllykangas, Liisa

Source: Acta neurologica Scandinavica. 146(1):42-50

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154693855.0x000001&indx=1&recIds=ETOCvdc_100154693855.0x000001

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Authors: Kuuluvainen, Liina, Mönkäre, Saana, Kokkonen, Hannaleena, Zhao, Fang, Verkkoniemi-Ahola, Auli, Schleutker, Johanna, Hakonen, Anna H., Hartikainen, Päivi, Pöyhönen, Minna, Myllykangas, Liisa

Source: Stroke. 52(10):e624-e625

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175337266.0x000001&indx=1&recIds=ETOCvdc_100175337266.0x000001

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.

Authors: Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel

Source: Scientific Reports; 3/16/2021, Vol. 11 Issue 1, p1-11, 11p

Subject Terms: ISCHEMIC stroke, NUCLEOTIDE sequencing, VASCULAR diseases, HYPERTENSION, ARTERIAL occlusions

Whole-exome sequencing of Finnish patients with vascular cognitive impairment

Authors: Mönkäre, Saana, Kuuluvainen, Liina, Kun-Rodrigues, Celia, Carmona, Susana, Schleutker, Johanna, Bras, Jose, Pöyhönen, Minna, Guerreiro, Rita, Myllykangas, Liisa

Source: European Journal of Human Genetics: EJHG; April 2021, Vol. 29 Issue: 4 p663-671, 9p

and Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes.

Authors: Kuuluvainen, Liina, Mönkäre, Saana, Kokkonen, Hannaleena, Zhao, Fang, Verkkoniemi-Ahola, Auli, Schleutker, Johanna, Hakonen, Anna H., Hartikainen, Päivi, Pöyhönen, Minna, Myllykangas, Liisa

Source: Stroke (00392499); Oct2021, Vol. 52 Issue 10, pe624-e625, 2p

COL4A1and COL4A2Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Authors: Kuuluvainen, Liina, Mönkäre, Saana, Kokkonen, Hannaleena, Zhao, Fang, Verkkoniemi-Ahola, Auli, Schleutker, Johanna, Hakonen, Anna H., Hartikainen, Päivi, Pöyhönen, Minna, Myllykangas, Liisa

Source: Stroke (Ovid); October 2021, Vol. 52 Issue: 10 pe624-e625, 2p