TY  - JOUR
AU  - Mondal, Ritwick
AU  - Deb, Shramana
AU  - Ray, Nirmalya
AU  - Purakayastha, Sukalyan
AU  - Tiwari, Mona
AU  - Benito León, Julián
PY  - 2025
DO  - 10.1007/S10048-025-00836-5
SN  - 1364-6753
UR  - https://hdl.handle.net/20.500.14352/124863
T2  - Neurogenetics
AB  - Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and compensatory collateral vessel formation, producing a characteristic “puff of smoke” angiographic appearance. Genetic predisposition,...
LA  - eng
M2  - 1
PB  - Springer Nature Link
KW  - Moyamoya disease
KW  - Transient neurological attack
KW  - Transient ischemic attack
KW  - Supraclinoid internal carotid artery stenosis
KW  - Digital Subtraction angiography
KW  - RNF213
KW  - Thr554Ile variant
KW  - Revascularization
KW  - Superficial temporal artery to middle cerebral artery bypass
KW  - Genetic susceptibility
KW  - Adult-onset moyamoya disease
TI  - Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
TY  - journal article
VL  - 26
ER  -