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Main features of COL4A1-COL4A2 related cerebral microangiopathies

Cerebral circulation - cognition and behavior, 2022-01, Vol.3, p.100140, Article 100140

2022

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Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Stroke (1970), 2021-09, Vol.52 (9), p.3025-3032

2021

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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Genetics in medicine, 2020-02, Vol.22 (2), p.427-431

2020

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Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Journal of cerebral blood flow and metabolism, 2023-01, Vol.43 (1), p.153-166

2023

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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.995-1003

2017

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Moyamoya disease and syndromes: from genetics to clinical management

Application of clinical genetics, 2015-01, Vol.8 (default), p.49-68

2015

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Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Multiple sclerosis, 2015-10, Vol.21 (12), p.1604-1607

2015

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Spinal Anterior Dural Dissection: Moving From Differential to Unifying Diagnosis

Neurosurgery, 2024-02

2024

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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3616-3623

2023

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Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

Stroke (1970), 2019-04, Vol.50 (4), p.789-796

2019

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Cerebral Amyloid Angiopathy Related Inflammation With Prominent Meningeal Involvement. A Report of 2 Cases

Frontiers in neurology, 2019-09, Vol.10

2019

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Elderly CADASIL patients with intact neurological status

대한뇌졸중학회지, 2022, 24(3), 16, pp.352-362

2022

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Border-Zone Cerebral Infarcts Associated with COVID-19 in CADASIL: A Report of 3 Cases and Literature Review

Cerebrovascular diseases extra, 2024, Vol.14 (1), p.1-8

2024

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Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

American journal of human genetics, 2014-03, Vol.94 (3), p.385-394

2014

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Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Human genomics, 2023-03, Vol.17 (1), p.24-24, Article 24

2023

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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Journal of medical genetics, 2017-08, Vol.54 (8), p.550-557

2017

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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

Journal of medical genetics, 2020-05, Vol.57 (5), p.339-346

2020

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Rare variant association testing for multicategory phenotype

Genetic epidemiology, 2019-09, Vol.43 (6), p.646-656

2019

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Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign

Neurology, 2013-03, Vol.80 (11), p.1067-1067

2013

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Can whole-exome sequencing data be used for linkage analysis?

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.581-586

2016

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Hereditary small vessel diseases and stroke

Sang, thrombose, vaisseaux : STV, 2021-12, Vol.33 (6), p.243-252

Guey, Stéphanie

2021

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Monogenic causes of cerebral small vessel disease and stroke

Handbook of Clinical Neurology, 2024, Vol.204, p.273-287

2024

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A rare cause of gait ataxia

The Lancet (British edition), 2011-10, Vol.378 (9798), p.1274-1274

2011

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Natural history of Myhre syndrome

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-304, Article 304

2022

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Assessment of retinal arteriolar tortuosity in patients with COL4A1 or COL4A2 mutations

Retina (Philadelphia, Pa.), 2024-10

2024

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Main features of COL4A1-COL4A2 related cerebral microangiopathies

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Moyamoya disease and syndromes: from genetics to clinical management

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Spinal Anterior Dural Dissection: Moving From Differential to Unifying Diagnosis

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

Cerebral Amyloid Angiopathy Related Inflammation With Prominent Meningeal Involvement. A Report of 2 Cases

Elderly CADASIL patients with intact neurological status

Border-Zone Cerebral Infarcts Associated with COVID-19 in CADASIL: A Report of 3 Cases and Literature Review

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

Rare variant association testing for multicategory phenotype

Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign

Can whole-exome sequencing data be used for linkage analysis?

Hereditary small vessel diseases and stroke

Monogenic causes of cerebral small vessel disease and stroke

A rare cause of gait ataxia

Natural history of Myhre syndrome

Assessment of retinal arteriolar tortuosity in patients with COL4A1 or COL4A2 mutations

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