NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
出版年份 2021 全文链接
标题
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
作者
关键词
-
出版物
NEUROGENETICS
Volume 23, Issue 1, Pages 1-9
出版商
Springer Science and Business Media LLC
发表日期
2021-12-01
DOI
10.1007/s10048-021-00679-w
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pathophysiological Mechanisms and Potential Therapeutic Targets in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
- (2020) Martina Locatelli et al. Frontiers in Pharmacology
- A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke
- (2020) Elli Katharine Greisenegger et al. JOURNAL OF NEUROLOGY
- SQSTM1 gene as a potential genetic modifier of CADASIL phenotype
- (2020) Maria Rosário Almeida et al. JOURNAL OF NEUROLOGY
- Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
- (2020) Vikas Pejaver et al. Nature Communications
- Vascular White Matter Lesions in Young Adults: A Neurology Outpatient Clinic Registry
- (2019) Miguel Viana-Baptista et al. EUROPEAN NEUROLOGY
- The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant
- (2018) Julie W. Rutten et al. GENETICS IN MEDICINE
- Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3
- (2018) Celeste Sassi et al. NEUROBIOLOGY OF AGING
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Role of NOTCH3 Mutations in the Cerebral Small Vessel Disease Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
- (2018) Kirsten Coupland et al. STROKE
- Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
- (2017) Elena Muiño et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Notch Signaling in Development, Tissue Homeostasis, and Disease
- (2017) Chris Siebel et al. PHYSIOLOGICAL REVIEWS
- On the Diagnosis of CADASIL
- (2017) Israel Ampuero et al. JOURNAL OF ALZHEIMERS DISEASE
- Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients
- (2016) Juan Gómez et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL
- (2016) Julie W. Rutten et al. Annals of Clinical and Translational Neurology
- Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
- (2015) T. Pippucci et al. EMBO Molecular Medicine
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients
- (2015) Angela Fernández et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
- (2015) Natalya Abramycheva et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients
- (2015) Cindy W. Yoon et al. NEUROBIOLOGY OF AGING
- Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features
- (2015) Marcello Moccia et al. NEUROBIOLOGY OF AGING
- R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL
- (2015) Kheng-Seang Lim et al. PLoS One
- Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
- (2014) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Emotional Disturbance in CADASIL: Its Impact on Quality of Life and Caregiver Burden
- (2014) Sang-Mi Noh et al. CEREBROVASCULAR DISEASES
- Dilated Perivascular Spaces in Small-Vessel Disease: A Study in CADASIL
- (2014) Ming Yao et al. CEREBROVASCULAR DISEASES
- Interpretation ofNOTCH3mutations in the diagnosis of CADASIL
- (2014) Julie W Rutten et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
- (2014) Silvia Bianchi et al. JOURNAL OF NEUROLOGY
- Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer
- (2013) Christopher G. Smith et al. HUMAN MUTATION
- Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
- (2013) Julie W. Rutten et al. HUMAN MUTATION
- NOTCH3 Variants and Risk of Ischemic Stroke
- (2013) Owen A. Ross et al. PLoS One
- Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy
- (2013) Roberto Erro et al. JAMA Neurology
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- Genetics of age-related white matter lesions from linkage to genome wide association studies
- (2012) Paul Freudenberger et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Molecular Pathways of Notch Signaling in Vascular Smooth Muscle Cells
- (2012) Joshua Boucher et al. Frontiers in Physiology
- Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
- (2011) H. Schmidt et al. BRAIN
- Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis
- (2011) Marco Duering et al. HUMAN MOLECULAR GENETICS
- Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease
- (2010) Anne Joutel et al. JOURNAL OF CLINICAL INVESTIGATION
- POG09 CADASIL in a mother and son due to a novel mutation of the NOTCH-3 gene
- (2010) C. Hewamadduma et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
- (2009) Saara Tikka et al. BRAIN
- CADASIL
- (2009) Hugues Chabriat et al. LANCET NEUROLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Neuropathological Correlates of Temporal Pole White Matter Hyperintensities in CADASIL
- (2009) Yumi Yamamoto et al. STROKE
- Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue
- (2008) Toshiki Mizuno et al. INTERNAL MEDICINE
- An overview of Notch3 function in vascular smooth muscle cells
- (2007) Tao Wang et al. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started