List of works - Anne Joutel

<scp>CADASIL</scp> Affects Multiple Aspects of Cerebral Small Vessel Function on <scp>7T‐MRI</scp>

scientific article published in November 2022

A gene for familial hemiplegic migraine maps to chromosome 19

scientific article

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

article

A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region

scientific article

A novel hereditary small vessel disease of the brain

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL

scientific article published on 6 May 2013

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

scientific article published on March 2008

Altered dynamics of neurovascular coupling in CADASIL

Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism

Autoimmune diseases in families of French patients with multiple sclerosis

article

Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

scientific article published on 21 November 2019

CADASIL and CARASIL.

scientific article

CADASIL brain vessels show a HTRA1 loss-of-function profile

scientific article published on 03 May 2018

CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y)

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)

article published in 1997

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

scientific article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression

scientific article

Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

scientific article

Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation

scientific article published in November 2003

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

scientific article published in February 2004

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

scientific article published on 27 January 2009

Consensus statement for diagnosis of subcortical small vessel disease

scientific article published on 22 July 2015

Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening.

scientific article published on November 1998

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

scientific article

Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

scientific article

HEREDITARY PAROXYSMAL ATAXIAS

Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy

scientific article

Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy

scientific article published on 29 November 2004

Increased Notch3 Activity Mediates Pathological Changes in Structure of Cerebral Arteries.

scientific article published on 7 November 2016

Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult

scientific article (publication date: September 2002)

Letter by Dichgans et al regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications".

scientific article

Loss-of-function Mutation in the NOTCH3 Gene: Simply a Polymorphism?

article

Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

scientific article

Mechanistic insights into a TIMP3-sensitive pathway constitutively engaged in the regulation of cerebral hemodynamics

scientific article published on August 2016

Mendelian and complex causes of migraine: Bridging the gap

article

Migraine With Aura and Brain Magnetic Resonance Imaging Abnormalities in Patients With CADASIL

article by Katayoun Vahedi et al published 1 August 2004 in Archives of Neurology

Notch signalling in smooth muscle cells during development and disease

scientific article published on 19 January 2012

Notch signalling pathway and human diseases

scientific article

Notch3 is a major regulator of vascular tone in cerebral and tail resistance arteries

scientific article

Notch3 is essential for regulation of the renal vascular tone.

scientific article published on 25 April 2011

Notch3 is required for arterial identity and maturation of vascular smooth muscle cells

scientific article published on November 2004

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

scientific article

Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia

scientific article published on September 1997

Notch3ECD immunotherapy improves cerebrovascular responses in CADASIL mice

scientific article published on 25 August 2018

Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities

scientific article published on 23 June 2020

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature

scientific article published on 21 October 2010

Pathogenesis of white matter changes in cerebral small vessel diseases: beyond vessel-intrinsic mechanisms

scientific article

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

scientific article

Patterns of MRI lesions in CADASIL ⬇️

scientific article published on August 1, 1998

Perichiasmatic granuloma occuring after radical mastoidectomy: MR findings

scientific article published in January 1998

Perivascular spaces in the brain: anatomy, physiology and pathology

scientific article published on 24 February 2020

Perspectives on Cognitive Phenotypes and Models of Vascular Disease

scientific article published on 05 May 2022

Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?

scientific article published on 8 April 2015

Potassium channelopathy-like defect underlies early-stage cerebrovascular dysfunction in a genetic model of small vessel disease.

scientific article

Recurrent Episodes of Coma: An Unusual Phenotype of Familial Hemiplegic Migraine with Linkage to Chromosome 1

article

Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice.

scientific article published on 09 December 2015

Response to Letter Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

scientific article

Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke.

scientific article published on 20 December 2017

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

scientific article

Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology. ⬇️

scientific article

Smooth muscle cells of intracranial vessels: From development to disease

scientific article

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

scientific article published in November 2002

Stroke-related translational research.

scientific article published on 09 May 2011

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

scientific article

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo

scientific article

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

scientific article (publication date: 5 July 2001)

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

scientific article

Transcriptome analysis for Notch3 target genes identifies Grip2 as a novel regulator of myogenic response in the cerebrovasculature

scientific article

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article published on January 2003

List of works by Anne Joutel

<scp>CADASIL</scp> Affects Multiple Aspects of Cerebral Small Vessel Function on <scp>7T‐MRI</scp>

A gene for familial hemiplegic migraine maps to chromosome 19

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region

A novel hereditary small vessel disease of the brain

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

Altered dynamics of neurovascular coupling in CADASIL

Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism

Autoimmune diseases in families of French patients with multiple sclerosis

Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

CADASIL and CARASIL.

CADASIL brain vessels show a HTRA1 loss-of-function profile

CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y)

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression

Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Consensus statement for diagnosis of subcortical small vessel disease

Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening.

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

HEREDITARY PAROXYSMAL ATAXIAS

Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy

Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy

Increased Notch3 Activity Mediates Pathological Changes in Structure of Cerebral Arteries.

Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult

Letter by Dichgans et al regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications".

Loss-of-function Mutation in the NOTCH3 Gene: Simply a Polymorphism?

Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

Mechanistic insights into a TIMP3-sensitive pathway constitutively engaged in the regulation of cerebral hemodynamics

Mendelian and complex causes of migraine: Bridging the gap

Migraine With Aura and Brain Magnetic Resonance Imaging Abnormalities in Patients With CADASIL

Notch signalling in smooth muscle cells during development and disease

Notch signalling pathway and human diseases

Notch3 is a major regulator of vascular tone in cerebral and tail resistance arteries

Notch3 is essential for regulation of the renal vascular tone.

Notch3 is required for arterial identity and maturation of vascular smooth muscle cells

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia

Notch3ECD immunotherapy improves cerebrovascular responses in CADASIL mice

Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature

Pathogenesis of white matter changes in cerebral small vessel diseases: beyond vessel-intrinsic mechanisms

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

Patterns of MRI lesions in CADASIL ⬇️

Perichiasmatic granuloma occuring after radical mastoidectomy: MR findings

Perivascular spaces in the brain: anatomy, physiology and pathology

Perspectives on Cognitive Phenotypes and Models of Vascular Disease

Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?

Potassium channelopathy-like defect underlies early-stage cerebrovascular dysfunction in a genetic model of small vessel disease.

Recurrent Episodes of Coma: An Unusual Phenotype of Familial Hemiplegic Migraine with Linkage to Chromosome 1

Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice.

Response to Letter Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke.

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology. ⬇️

Smooth muscle cells of intracranial vessels: From development to disease

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

Stroke-related translational research.

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Transcriptome analysis for Notch3 target genes identifies Grip2 as a novel regulator of myogenic response in the cerebrovasculature

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Understanding the role of the perivascular space in cerebral small vessel disease