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List of works by Elisabeth Tournier-Lasserve

A case of late-onset CADASIL with interhemispheric disconnection features

article

A dinucleotide repeat polymorphism at the poly(ADP-ribose) polymerase gene is not associated with predisposition to type 1 diabetes in French Caucasians

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 extensive vascular leukoencephalopathy mapping to chromosome 20q13.

scientific article published on 21 November 2012

A novel hereditary small vessel disease of the brain

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

scientific article published on 29 April 2015

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

scientific article published on 14 November 2016

ATP1A2 mutations in 11 families with familial hemiplegic migraine

scientific article

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

scientific article published on March 2008

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

scientific article published on 19 December 2014

Advances in stroke: genetics 2012.

scientific article

Anticardiolipin antibodies in patients with multiple sclerosis do not represent a subgroup of patients according to clinical, familial, and biological characteristics.

scientific article

Antithrombotic therapy and bleeding risk in a prospective cohort study of patients with cerebral cavernous malformations

scientific article

Apports de la génétique moléculaire dans les angiomes caverneux

Autoimmune diseases in families of French patients with multiple sclerosis

article

Bases immunogénétiques du lupus systémique chez l'homme

scientific article published on 01 October 1998

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

scientific article published in January 2013

CADASIS. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalophathy

scientific article published on July 1, 1997

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions

CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling

scientific article

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

scientific article published on 3 April 2013

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

scientific article published on 22 March 2007

COL4A1 mutation revealed by an isolated brain hemorrhage.

scientific article published on 10 July 2013

COL4A1 mutations associated with a characteristic pattern of intracranial calcification

scientific article published in December 2011

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

scientific article published on 05 January 2014

CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis.

scientific article published on 17 June 2016

Cadasil

scientific article

Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation

scientific article published on 27 March 2013

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

scientific article published on 15 July 2015

Cerebral Cavernous Malformation-1 Protein Controls DLL4-Notch3 Signaling Between the Endothelium and Pericytes

scientific article published on 19 March 2015

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

scientific article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family ⬇️

scientific article published on August 1, 1995

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: from stroke to vessel wall physiology

scientific article published in March 2001

Cerebral cavernous malformations arise independent of the heart of glass receptor

scientific article published on 18 March 2014

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

scientific article

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

scientific article published on 15 March 2013

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene

scientific article published on 2 April 2015

Clinical and brain MRI follow-up study of a family with COL4A1 mutation

scientific article published in October 2007

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

scientific article published in February 2004

Cognitive alterations in non-demented CADASIL patients

scientific article published in March 1998

De novo mutation in theNotch3 gene causing CADASIL

scientific article (publication date: March 2000)

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

article

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

scientific article published on 25 March 2017

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations

scientific article published on 20 December 2013

Defective vascular integrity upon KRIT1/ICAP-1 complex loss in CCM correlates with aberrant beta 1 integrin-dependent extracellular matrix remodeling

article published in 2012

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice

scientific article

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

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

scientific article published on 26 September 2016

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

scientific article

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

scientific article published on March 2009

EndMT contributes to the onset and progression of cerebral cavernous malformations

scientific article published on 9 June 2013

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

scientific article published in November 2009

Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q ⬇️

scientific article published on July 1, 1997

Familial central retinal vein occlusion.

scientific article published on 15 December 2006

Familial cluster headache: a series of 186 index patients

scientific article published in November 2002

Familial form of typical childhood absence epilepsy in a consanguineous context

scientific article

Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)

article by Michael Hutchinson et al published November 1995 in Annals of Neurology

Familial lupus erythematosus. Clinical and immunologic features of 125 multiplex families

scientific article

Familial occurrence and heritable connective tissue disorders in cervical artery dissection

scientific article published on 29 October 2014

Fetal intracerebral hemorrhage and cataract: think COL4A1

scientific article published on 01 January 2014

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.

scientific article

Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study

scientific article

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families

scientific article

Genetic syndromes that mimic congenital infections: report of 2 cases

scientific article published on 2 October 2011

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

scientific article

Genotype-phenotype correlations in cerebral cavernous malformations patients

scientific article published in November 2006

HEREDITARY PAROXYSMAL ATAXIAS

Healthy monozygous twins do not recognize identical T cell epitopes on the myelin basic protein autoantigen

scientific article published on October 1994

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie

scientific article published in December 1998

Hereditary episodic ataxia

scientific article

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

scientific article

Human T cell response to myelin basic protein: Is the T cell repertoire different in multiple sclerosis patients and healthy subjects?

Human T-Cell Response to Human and Heterologous Myelin Basic Proteins

scientific article published on 01 January 1988

Human T-cell response to myelin basic protein in multiple sclerosis patients and healthy subjects

article

Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation

scientific article published on 01 March 2014

Identification of CACNA1A large deletions in four patients with episodic ataxia

scientific article published on 25 July 2009

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

In vivo clonal expression of T lymphocytes specific for an immunodominant N-terminal myelin basic protein epitope in healthy individuals.

scientific article published on June 1995

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

scientific article published on 01 January 2009

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

scientific article (publication date: September 2002)

Lack of association between thrombosis in primary antiphospholipid syndrome and the recently described thrombophilic 3'-untranslated prothrombin gene polymorphism

scientific article published on 01 November 1997

Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton

scientific journal article

Large CACNA1A deletion in a family with episodic ataxia type 2.

scientific article published in June 2008

Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.

scientific article published on 22 August 2014

Late onset hereditary episodic ataxia

scientific article published in May 2009

Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

scientific article

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

scientific article published in April 2014

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

scientific article published on 27 February 2014

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

scientific 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

Migraine hémiplégique familiale

scholarly article published January 2004

Missense CACNA1A mutation causing episodic ataxia type 2

scientific article (publication date: February 2001)

Moyamoya disease and syndromes: from genetics to clinical management

scientific article

Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family

scientific article published on 11 July 2010

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

scientific article published on April 2015

Mutations within the MGC4607 gene cause cerebral cavernous malformations

scientific article

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

scientific article

Natural history of cerebral dot-like cavernomas

scientific article published on 8 May 2013

Network-based analysis of omics data: the LEAN method

scientific article

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus

scientific article

New players in the genetics of stroke

scientific article

Notch signalling pathway and human diseases

scientific article

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

Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1.

scientific article published on 18 February 2015

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

article by Gaël Nicolas et al published 7 March 2014 in Journal of Molecular Neuroscience

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

Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development

scientific article published on 7 February 2006

Phenotypic variability of episodic ataxia type 2 mutations: a family study

scientific article published on 15 July 2010

Presymptomatic genetic testing in CADASIL.

scientific article published on 15 March 2012

Prevalence of serum antibodies to hepatitis C virus is not increased in patients with multiple sclerosis.

scientific article published on December 1996

Primary antiphospholipid syndrome is not associated with activated protein C resistance caused by factor V Arg 506 -->Gln mutation

scientific article published on June 1, 1995

Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy

scientific article published on 17 October 2013

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

scientific article

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

scientific article published on 22 January 2010

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

article

Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins.

scientific article published in January 2015

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

scientific article

Retinal ischemic syndrome, digestive tract small-vessel hyalinosis, and diffuse cerebral calcifications: a pediatric observation of a rare syndrome

scientific article published in August 2005

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

scientific article published in April 2006

Rôle du canal calcique P/Q dans la migraine hémiplégique familiale

article by Norbert Weiss et al published January 2007 in Médecine/sciences

Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation

scientific article published on 21 May 2008

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

scientific article

Spanish families with cavernous angiomas do not share the Hispano-American CCM1 haplotype

scientific article published in October 1999

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

scientific article published in November 2002

Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation

scientific article published on 7 October 2009

Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?

scientific article

Stroke-related translational research.

scientific article published on 09 May 2011

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

scientific article

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel

scientific article published on 7 April 2017

T cell response to myelin basic protein epitopes in multiple sclerosis patients and healthy subjects

article

TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement

article published in 2016

The R131 low-affinity allele of the Fc gamma RIIA receptor is associated with systemic lupus erythematosus but not with other autoimmune diseases in French Caucasians

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 control of vascular integrity by endothelial cell junctions: molecular basis and pathological implications

scientific article published on February 2009

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

scientific article

The genetics of migraine

scientific article

Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations

scientific article published on 2 February 2009

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

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