"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

scientific article published on 10 April 2013

"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S10072-013-1418-5
P698PubMed publication ID23572112
P5875ResearchGate publication ID236188634

P50authorLuigi TrojanoQ45918365
Cristina MiceliQ56972488
Marco OnofrjQ57003536
P2093author name stringManrico Morroni
Antonio Manca
Michele Ragno
Luigi Pianese
Serena Silvestri
Fabio Di Marzio
Gabriella Cacchiò
Maria Scarcella
P2860cites workSplice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASILQ28143970
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementiaQ28294011
The International Classification of Headache Disorders: 2nd editionQ29547231
CadasilQ33470786
Interobserver agreement for the assessment of handicap in stroke patients.Q34176187
Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyQ34295928
CADASIL: a monogenic condition causing stroke and subcortical vascular dementiaQ34568777
"CADASIL coma": an underdiagnosed acute encephalopathyQ35471508
Neuromuscular implications in CADASIL.Q36945487
Carotid atherosclerotic markers in CADASIL.Q44448113
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individualsQ44523405
A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imagingQ48360275
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-upQ48393223
Investigation of the single case in neuropsychology: confidence limits on the abnormality of test scores and test score differencesQ48640110
Simultaneous impairment of intracranial and peripheral artery vasoreactivity in CADASIL patientsQ48769144
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.Q51389574
High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Q54474722
Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASILQ60633918
Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locusQ72319623
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutationQ74312798
The phenotypic spectrum of CADASIL: clinical findings in 102 casesQ77568574
Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family reportQ83203418
P433issue11
P921main subjectcomaQ159557
homozygosityQ114049690
heterozygosityQ124059385
P304page(s)1947-1953
P577publication date2013-04-10
P1433published inNeurological SciencesQ15763262
P1476title"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation
P478volume34

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cites work (P2860)
Q30861866CADASIL and CARASIL.
Q37694369CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.
Q36288849Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
Q57456322Cerebrovascular disorders associated with genetic lesions
Q93102418Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome
Q54234347Homozygosity and severity of phenotypic presentation in a CADASIL family.
Q89980521Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report
Q35686163Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family
Q38213076Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Q89725075Notch Pathway and Inherited Diseases: Challenge and Promise
Q90620516Periventricular Hyperintensities Mimicking Multiple Sclerosis
Q35406988Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical infarct and leucoencephalopathy in two Chinese families

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