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

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

doi:10.1016/j.neurobiolaging.2022.11.013

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

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

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Neurobiology of Aging
Volym	123
Sidor (från-till)	208-215
Antal sidor	8
ISSN	0197-4580
DOI	https://doi.org/10.1016/j.neurobiolaging.2022.11.013
Status	Publicerad - mars 2023
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3121 Allmänmedicin, inre medicin och annan klinisk medicin
3112 Neurovetenskaper
3124 Neurologi och psykiatri

Åtkomst av dokument

10.1016/j.neurobiolaging.2022.11.013

Citera det här

Foddis, M., Blumenau, S., Holtgrewe, M., Paquette, K., Westra, K., Alonso, I., Macario, M. D. C., Morgadinho, A. S., Velon, A. G., Santo, G., Santana, I., Monkare, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Pavlovic, A., Kostic, V., Dobricic, V., ... Sassi, C. (2023). TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients. Neurobiology of Aging, 123, 208-215. https://doi.org/10.1016/j.neurobiolaging.2022.11.013

@article{3d9bf077ecfa437b9e6afaebdab513e0,

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

keywords = "Cerebral autosomal dominant arteriopathy, Early-onset stroke, Exome sequencing, Trex1, leukoencephalopathy (CADASIL), Leukoencephalopathy and systemic, manifestations (RVCL-S ), Retinal vasculopathy with cerebral, With subcortical infarcts and, 3121 General medicine, internal medicine and other clinical medicine, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Marco Foddis and Sonja Blumenau and Manuel Holtgrewe and Kimberly Paquette and Kaitlyn Westra and Isabel Alonso and Macario, {Maria do Carmo} and Morgadinho, {Ana Sofia} and Velon, {Ana Graca} and Gustavo Santo and Isabel Santana and Saana Monkare and Liina Kuuluvainen and Johanna Schleutker and Minna P{\"o}yh{\"o}nen and Liisa Myllykangas and Aleksandra Pavlovic and Vladimir Kostic and Valerija Dobricic and Ebba Lohmann and Hasmet Hanagasi and Mariana Santos and Gamze Guven and Basar Bilgic and Jose Bras and Dieter Beule and Ulrich Dirnagl and Rita Guerreiro and Celeste Sassi",

year = "2023",

month = mar,

doi = "10.1016/j.neurobiolaging.2022.11.013",

language = "English",

volume = "123",

pages = "208--215",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC",

}

Foddis, M, Blumenau, S, Holtgrewe, M, Paquette, K, Westra, K, Alonso, I, Macario, MDC, Morgadinho, AS, Velon, AG, Santo, G, Santana, I, Monkare, S, Kuuluvainen, L, Schleutker, J, Pöyhönen, M , Myllykangas, L, Pavlovic, A, Kostic, V, Dobricic, V, Lohmann, E, Hanagasi, H, Santos, M, Guven, G, Bilgic, B, Bras, J, Beule, D, Dirnagl, U, Guerreiro, R & Sassi, C 2023, 'TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients', Neurobiology of Aging, vol. 123, s. 208-215. https://doi.org/10.1016/j.neurobiolaging.2022.11.013

TY - JOUR

T1 - TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

AU - Foddis, Marco

AU - Blumenau, Sonja

AU - Holtgrewe, Manuel

AU - Paquette, Kimberly

AU - Westra, Kaitlyn

AU - Alonso, Isabel

AU - Macario, Maria do Carmo

AU - Morgadinho, Ana Sofia

AU - Velon, Ana Graca

AU - Santo, Gustavo

AU - Santana, Isabel

AU - Monkare, Saana

AU - Kuuluvainen, Liina

AU - Schleutker, Johanna

AU - Pöyhönen, Minna

AU - Myllykangas, Liisa

AU - Pavlovic, Aleksandra

AU - Kostic, Vladimir

AU - Dobricic, Valerija

AU - Lohmann, Ebba

AU - Hanagasi, Hasmet

AU - Santos, Mariana

AU - Guven, Gamze

AU - Bilgic, Basar

AU - Bras, Jose

AU - Beule, Dieter

AU - Dirnagl, Ulrich

AU - Guerreiro, Rita

AU - Sassi, Celeste

PY - 2023/3

Y1 - 2023/3

KW - Cerebral autosomal dominant arteriopathy

KW - Early-onset stroke

KW - Exome sequencing

KW - Trex1

KW - leukoencephalopathy (CADASIL)

KW - Leukoencephalopathy and systemic

KW - manifestations (RVCL-S )

KW - Retinal vasculopathy with cerebral

KW - With subcortical infarcts and

KW - 3121 General medicine, internal medicine and other clinical medicine

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.neurobiolaging.2022.11.013

DO - 10.1016/j.neurobiolaging.2022.11.013

M3 - Article

C2 - 36586737

SN - 0197-4580

VL - 123

SP - 208

EP - 215

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -