Elisabeth Tournier-Lasserve

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#1649

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#2012

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#196

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#269

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Elisabeth Tournier-Lasserve

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#13104

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#8027

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Philosophy

Elisabeth Tournier-Lasserve's Degrees

Doctorate Medicine Université Paris Cité
PhD Neurology Université Paris Cité

Why Is Elisabeth Tournier-Lasserve Influential?

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According to Wikipedia, Élisabeth Tournier-Lasserve is a French neurologist, medical geneticist, university professor and hospital practitioner in genetics. Together with three colleagues, she was the co-recipient of the Brain Prize in 2019, the world's largest brain research prize.

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Elisabeth Tournier-Lasserve's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia (1996) (1938)
The control of vascular integrity by endothelial cell junctions: molecular basis and pathological implications. (2009) (716)
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients (1997) (634)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 (1993) (568)
CADASIL (2009) (551)
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. (2000) (536)
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. (2001) (515)
Notch3 is required for arterial identity and maturation of vascular smooth muscle cells. (2004) (487)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. (2006) (467)
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas (1999) (457)
EndMT contributes to the onset and progression of cerebral cavernous malformations (2013) (399)
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. (2005) (395)
A gene for familial hemiplegic migraine maps to chromosome 19 (1993) (377)
Patterns of MRI lesions in CADASIL (1998) (319)
Genetics of cavernous angiomas (2007) (303)
Autosomal Dominant Leukoencephalopathy and Subcortical Ischemic Stroke: A Clinicopathological Study (1993) (296)
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 (2017) (278)
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis (2001) (250)
Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families (1998) (246)
Autosomal Dominant Syndrome With Strokelike Episodes and Leukoencephalopathy (1991) (234)
Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity (1997) (228)
Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (2003) (219)
Genotype–phenotype correlations in cerebral cavernous malformations patients (2006) (216)
Mutations within the MGC4607 gene cause cerebral cavernous malformations. (2004) (216)
Restricted T-cell receptor V beta gene usage by myelin basic protein-specific T-cell clones in multiple sclerosis: predominant genes vary in individuals. (1991) (200)
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2 (1999) (193)
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. (1999) (189)
De novo mutation in the Notch3 gene causing CADASIL (2000) (173)
Notch signalling pathway and human diseases. (1998) (171)
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM (2010) (159)
CACNA1A mutations (1999) (158)
Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. (2013) (156)
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy (2000) (150)
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. (2004) (149)
Moyamoya disease and syndromes: from genetics to clinical management (2015) (141)
Impaired Cerebral Vasoreactivity in a Transgenic Mouse Model of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Arteriopathy (2005) (137)
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. (2015) (136)
New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. (1995) (131)
Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. (2004) (129)
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins. (2015) (125)
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice (2011) (124)
Notch3 Mutations in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a Mendelian Condition Causing Stroke and Vascular Dementia (1997) (120)
Autosomal dominant migraine with MRI white‐matter abnormalities mapping to the CADASIL locus (1995) (117)
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p (1995) (117)
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations (2002) (116)
PRRT2 mutations cause hemiplegic migraine (2012) (115)
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. (2009) (112)
Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations (2009) (110)
The Hox-1.3 homeo box protein is a sequence-specific DNA-binding phosphoprotein. (1989) (110)
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine (2010) (108)
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations (2004) (107)
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. (2011) (104)
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy (2003) (101)
Familial form of intracranial cavernous angioma: MR imaging findings in 51 families. French Society of Neurosurgery. (2000) (99)
The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. (2007) (99)
ATP1A2 mutations in 11 families with familial hemiplegic migraine (2005) (99)
Familial Lupus Erythematosus: Clinical and Immunologic Features of 125 Multiplex Families (2001) (97)
Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice (2015) (97)
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. (2014) (95)
Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL) (1995) (95)
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families (1999) (95)
Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993. (1994) (95)
Impaired Vascular Mechanotransduction in a Transgenic Mouse Model of CADASIL Arteriopathy (2005) (93)
COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage (2007) (93)
CCM1–ICAP-1 complex controls β1 integrin–dependent endothelial contractility and fibronectin remodeling (2013) (91)
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. (2013) (88)
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL (2000) (84)
Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations (2009) (82)
Brain stem MRI signal abnormalities in CADASIL. (1999) (81)
Autoimmune diseases in families of French patients with multiple sclerosis (2000) (81)
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas (2013) (79)
Notch 3 is required for arterial identity and maturation of vascular smooth muscle cells (2004) (76)
SPECT study of a German CADASIL family (1998) (76)
The Genetics of Migraine (2002) (75)
Research Progresses in Understanding the Pathophysiology of Moyamoya Disease (2016) (74)
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family (2008) (72)
Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology (2020) (72)
Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. (2006) (72)
T cell response to myelin basic protein epitopes in multiple sclerosis patients and healthy subjects (1991) (70)
Intrathecal synthesis of antibodies to human T lymphotropic virus type I and the presence of IgG oligoclonal bands in the cerebrospinal fluid of patients with endemic tropical spastic paraparesis. (1988) (70)
Clinical and brain MRI follow-up study of a family with COL4A1 mutation (2007) (69)
Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. (1994) (68)
Elicited repetitive daily blindness (2009) (67)
Cognitive Alterations in Non-Demented CADASIL Patients (1998) (67)
Familial Cluster Headache: A Series of 186 Index Patients (2002) (65)
Missense CACNA1A mutation causing episodic ataxia type 2. (2001) (64)
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians (2017) (62)
Cerebral Cavernous Malformation-1 Protein Controls DLL4-Notch3 Signaling Between the Endothelium and Pericytes (2015) (60)
Activating NOTCH3 mutation in a patient with small‐vessel‐disease of the Brain (2008) (59)
Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult (2002) (57)
An italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (1995) (54)
Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy (2016) (53)
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions (2013) (53)
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G‐C content (2000) (53)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. (1995) (53)
Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations (2012) (50)
Human T‐cell response to myelin basic protein in multiple sclerosis patients and healthy subjects (1988) (49)
Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation (2003) (49)
PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy (2014) (48)
New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus (2004) (48)
Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years (2018) (47)
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. (2015) (47)
New players in the genetics of stroke. (2002) (47)
Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. (2006) (45)
Autosomal Dominant Leukoencephalopathy and Subcortical Ischemic Stroke (2005) (45)
Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton. (2009) (45)
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification (2011) (43)
A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. (2002) (43)
Anticardiolipin antibodies in patients with multiple sclerosis do not represent a subgroup of patients according to clinical, familial, and biological characteristics (2002) (42)
Identification of CACNA1A large deletions in four patients with episodic ataxia (2010) (42)
HTLV-I, BRAIN ABNORMALITIES ON MAGNETIC RESONANCE IMAGING, AND RELATION WITH MULTIPLE SCLEROSIS (1987) (42)
Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1. (1999) (42)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: from stroke to vessel wall physiology (2001) (38)
[Hemiplegic migraine]. (1995) (38)
Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation (2008) (38)
A hereditary moyamoya syndrome with multisystemic manifestations (2010) (38)
Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q (1997) (38)
A novel hereditary small vessel disease of the brain (2006) (38)
Chronic myelopathies associated with human T-lymphotropic virus type I. A clinical, serologic, and immunovirologic study of ten patients in France. (1989) (36)
Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL (2014) (36)
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy (2014) (34)
Large CACNA1A deletion in a family with episodic ataxia type 2. (2008) (33)
Mutations within the MGC 4607 Gene Cause Cerebral Cavernous Malformations (2004) (33)
Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations (2018) (32)
Poly(ADP-ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome (1999) (32)
Nontraumatic Pediatric Intracerebral Hemorrhage. (2019) (32)
Familial occurrence and heritable connective tissue disorders in cervical artery dissection (2014) (31)
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. (2019) (31)
Fetal intracerebral hemorrhage and cataract: think COL4A1 (2014) (31)
IL-2 receptor and HLA class II antigens on cerebrospinal fluid cells of patients with multiple sclerosis and other neurological diseases. (1987) (30)
Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families (1999) (29)
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy (2019) (29)
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood (2009) (29)
Network-based analysis of omics data: the LEAN method (2016) (27)
APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL (2016) (26)
Cognitive impairment in children with CACNA1A mutations (2019) (26)
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation (2010) (26)
Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening (1998) (25)
The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity (2018) (25)
A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13 (2012) (24)
Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy (2015) (24)
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. (2017) (24)
Remarkable intron and exon sequence conservation in human and mouse homeobox Hox 1.3 genes (1989) (23)
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy (2017) (23)
Moyamoya disease: diagnosis and interventions (2022) (23)
The immunogenetics of myasthenia gravis, multiple sclerosis and their animal models (1993) (23)
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy (2019) (22)
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis (2016) (22)
Presymptomatic genetic testing in CADASIL (2012) (21)
Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor (2014) (21)
CADASIL: yesterday, today, tomorrow (2020) (21)
Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications (2014) (21)
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. (2000) (21)
The Genetic Basis of Moyamoya Disease (2021) (21)
T-cell Subsets in Multiple Sclerosis (1986) (20)
MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS (2009) (20)
Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study (2010) (20)
Stroke-related translational research. (2011) (19)
Novel Chronic Mouse Model of Cerebral Cavernous Malformations (2020) (19)
A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. (1996) (19)
[CADASIS. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalophathy]. (1997) (18)
French clinical practice guidelines for Moyamoya angiopathy. (2018) (18)
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations (2014) (18)
[Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain]. (2002) (16)
COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage (2013) (16)
Healthy monozygous twins do not recognize identical T cell epitopes on the myelin basic protein autoantigen (1994) (16)
Natural history of cerebral dot-like cavernomas. (2013) (16)
Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease? (2001) (15)
Missense CACNA 1 A Mutation Causing Episodic Ataxia Type 2 (2001) (15)
[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging]. (2000) (14)
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. (2015) (14)
[CADASIL: genetics and physiopathology]. (2000) (13)
Blocking Signalopathic Events to Treat Cerebral Cavernous Malformations. (2020) (13)
Late onset hereditary episodic ataxia (2009) (13)
Primary antiphospholipid syndrome is not associated with activated protein C resistance caused by factor V Arg 506 -->Gln mutation. (1995) (13)
Can whole-exome sequencing data be used for linkage analysis? (2015) (12)
Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. (2020) (12)
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders (2018) (12)
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene (2015) (12)
Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients (2009) (11)
Large CACNA 1 A Deletion in a Family With Episodic Ataxia Type 2 (2008) (11)
TCR alpha beta gene usage for myelin basic protein recognition in healthy monozygous twins. (1996) (11)
Familial form of typical childhood absence epilepsy in a consanguineous context (2010) (11)
Les migraines hémiplégiques (1995) (10)
Poly(ADP-ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome. GRAID Research Group. Group for Research on Auto-Immune Disorders. (1999) (9)
Ataxies épisodiques génétiques (2011) (9)
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. (2019) (9)
In vivo clonal expansion of T lymphocytes specific for an immunodominant N-terminal myelin basic protein epitope in healthy individuals (1995) (9)
Anti‐Myelin Basic Protein Autoreactive T Lymphocytes in Healthy Subjects and Multiple Sclerosis Patients (1986) (9)
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication (2021) (9)
[Hereditary episodic ataxia]. (2011) (9)
[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)]. (1996) (9)
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells (2020) (9)
Spanish families with cavernous angiomas do not share the Hispano- American CCM1haplotype (1999) (8)
Hemiplegic Migraine Associated With PRRT2 Mutations: A Clinical and Genetic Study. (2021) (8)
An additional monogenic disorder that masquerades as multiple sclerosis. (1996) (8)
Rare variant association testing for multicategory phenotype (2019) (8)
Acute and regressive encephalopathy coincident with transient isolation of human immunodeficiency virus from cerebrospinal fluid of a seropositive man. (1988) (8)
Bases moléculaires et mécanismes physiopathogéniques de CADASIL: un modèle de maladie des petites artères cérébrales. (2002) (8)
Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy (2013) (7)
Rôle du canal calcique P/Q dans la migraine hémiplégique (2007) (7)
Hereditary Cerebral Small Vessel Diseases and Stroke (2021) (7)
A case of late-onset CADASIL with interhemispheric disconnection features (2003) (7)
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic. (2021) (7)
COL4A1 and COL4A2 mutations: when to test a fetus? (2020) (7)
Familial central retinal vein occlusion (2008) (6)
[Double-blind treatment of 49 cases of chronic multiple sclerosis using hyperbaric oxygen]. (1986) (6)
Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1 (2015) (6)
function in vivo (2007) (6)
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome (2020) (6)
A dinucleotide repeat polymorphism at the poly(ADP-ribose) polymerase gene is not associated with predisposition to type 1 diabetes in French Caucasians. (2001) (6)
Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family (2010) (6)
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions (2021) (5)
Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide (2006) (5)
[Role of P/Q calcium channel in familial hemiplegic migraine]. (2007) (5)
Apports de la génétique moléculaire dans les angiomes caverneux (2007) (5)
Advances in stroke: genetics 2012. (2013) (5)
Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation (2014) (5)
Genetic analysis of 12 unrelated CADASIL families: Demonstration of genetic homogeneity: Physical mapping of the gene (1994) (4)
Update on the genetics of stroke and cerebrovascular disease 2004. (2005) (4)
Late Diagnosis of COL4A1 Mutation and Problematic Vascular Risk Factor Management (2014) (4)
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement (2016) (4)
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage (2022) (4)
Molecular Genetic Screening of CCM Patients: An Overview. (2020) (3)
[Update on the genetics of systemic lupus]. (2000) (3)
Gene therapy and beyond (1999) (3)
Recalibrating vascular malformations and mechanotransduction by pharmacological intervention (2022) (3)
Prevalence of serum antibodies to hepatitis C virus is not increased in patients with multiple sclerosis. (1996) (3)
Extension of SKAT to multi-category phenotypes through a geometrical interpretation (2021) (3)
Analysis of transcription of the murine homeobox gene Hox 1.3 (1989) (3)
Bases immunogénétiques du lupus systémique chez l'homme (1998) (3)
[Expression of interleukin 2 receptor and class II histocompatibility antigens on lymphocytes of the cerebrospinal fluid in patients with multiple sclerosis and other neurological diseases]. (1987) (3)
Genetics of familial hemiplegic migraine (2000) (3)
To the Editor (1995) (3)
Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate (2022) (3)
Genetics of Moyamoya Beyond RNF213: Monogenic Moyamoya Syndromes (2017) (2)
End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy (2021) (2)
Actualités de la génétique du lupus systémique (2000) (2)
Expression du récepteur de l'interleukine 2 et des antigènes d'histocompatibilité de classe II sur les lymphocytes du liquide céphalorachidien chez des patients atteints de sclérose en plaques et d'autres maladies neurologiques (1987) (2)
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial (2022) (2)
Genetics of migraine The Genetics of Migraine (2005) (2)
Correction to: Heritable and non-heritable uncommon causes of stroke (2020) (2)
Human T cell response to myelin basic protein: Is the T cell repertoire different in multiple sclerosis patients and healthy subjects? (1987) (2)
Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations (2020) (2)
CCM1/ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodelling (2013) (2)
ARCHIVES OF NEUROLOGY (2015) (2)
Hemiplegic Migraine Associated With PRRT2 Variations (2022) (2)
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis (2022) (2)
Génétique moléculaire de la migraine (2005) (2)
Retinal ischemic syndrome, digestive tract small-vessel hyalinosis, and diffuse cerebral calcifications: a pediatric observation of a rare syndrome. (2002) (1)
A Gene for Hereditary Cerebellar Ataxia to Chromosome Paroxysmal Maps 19P (1995) (1)
European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN) (2023) (1)
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype (2022) (1)
Defective vascular integrity upon KRIT1/ICAP-1 complex loss in CCM correlates with aberrant beta 1 integrin-dependent extracellular matrix remodeling (2012) (1)
Comparison of the response to phytohemagglutinin, of peripheral blood monuclear cells and cerebrospinal fluid lymphocytes in multiple sclerosis and other neurological diseases (1986) (1)
The Hox 1.3 Horneo Box Gene Encodes a Sequence Specific DNA Binding Phosphoprotein (1989) (1)
Human T‐Cell Response to Human and Heterologous Myelin Basic Proteins (1988) (1)
Oral Presentations 1 The Genetics of Migraine and Other Headaches (1995) (1)
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy (2023) (1)
Moyamoya Disease Explored Through RNF213 (2017) (1)
Vascular smooth muscle cell is the primary target of events leading from notch3 mutations to cadasil (2000) (1)
French clinical practice guidelines for moyamoya angiopathy (2018) (1)
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation (2013) (1)
[Genetic syndromes that mimic congenital infections: report of 2 cases]. (2011) (1)
Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain (1994) (1)
[Contribution of molecular genetics in cavernous angiomas]. (2007) (1)
Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors (2022) (1)
The Human Cognate of the Murine Hox 1.3 Horneo Box Gene is Almost Identical to its Murine Counterpart (1989) (1)
Syndromes génétiques mimant les infections congénitales : à propos de 2 cas (2011) (1)
Cavernomes du système nerveux central (2008) (1)
Génétique des accidents vasculaires cérébraux. (2003) (1)
Compléments : French clinical practice guidelines for Moyamoya angiopathy (2018) (0)
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. (2023) (0)
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations (2023) (0)
Migraine and ataxias (2000) (0)
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions (2013) (0)
Contents Vol. 35, 2013 (2013) (0)
ANTINUCLEAR ANTIBODIES IN MULTIPLE SCLEROSIS. AUTHOR'S REPLY (1995) (0)
Impaired assembly of HTRA1 oligomers as a pathogenic mechanism in cerebral small vessel disease (2017) (0)
T Cell Response to Myelin Basic Protein in Healthy Subjects and Multiple Sclerosis Patients (1988) (0)
Cerebral Cavernous Malformations, Molecular Biology, and Genetics (2020) (0)
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension (2023) (0)
MS and HTLV‐I (1991) (0)
A Tribute to the Editorial Board 2016 (2016) (0)
Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV) (2022) (0)
Association de tortuosités artérielles rétiniennes héréditaires, d'hémiparésie et de leucoencéphalopathie : une nouvelle vasculopathie à transmission autosomique dominante. (2008) (0)
Comparison of the response to phytohemagglutinin, of peripheral blood mononuclear cells and cerebrospinal fluid lymphocytes in multiple sclerosis and other neurological diseases. Determination of the frequency of the precursor cells by a limiting dilution analysis. (1986) (0)
Transgenic mice modeling CADASIL arteriopathy have impaired cerebrovascular reactivity (2005) (0)
39 – CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (2011) (0)
The Genetic Basis of Moyamoya Disease (2021) (0)
Abstract 183: Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients with Cerebral Cavernous Malformations (CCM) (2013) (0)
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC 1 gene Syndrome CRMCC ( cerebro-retinal microangiopathy with calcifications and cysts ) lié à des mutations récessives du gène CTC 1 (2015) (0)
[Molecular genetics of migraine]. (2005) (0)
CCM CARE GUIDELINES 1 (2017) (0)
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype (2022) (0)
Col4a2 mutation causing recurrent intracerebral hemorrhage — /INS;Importance of screening both Col4a1 and Col4a2 in ICH of unknown origin (2013) (0)
Abstract 53: Missense Pathogenic Variants in ANO1 Predispose to Moyamoya Disease (2020) (0)
PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy (2014) (0)
Affezioni dell’encefaloAtassie episodiche (2012) (0)
Different T-Cell Response to Myelin Basic Protein in Multiple Sclerosis Patients and in Healthy Subjects (1988) (0)
HEREDITARY PAROXYSMAL ATAXIAS: CLINICAL AND GENETIC ASPECTS (1997) (0)
Sequencing and Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragment Analysis (2014) (0)
Elderly CADASIL patients with intact neurological status (2022) (0)
A novel large deletion in CCM1 gene in a Tunisian family. (2018) (0)
In CADASIL-related gen, diagnostic-methods and therapeutic use (1997) (0)
Les enjeux de la recherche sur les maladies rares (2005) (0)
41 – CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (2016) (0)
Chercher les mutations de CADASIL (2003) (0)
Migraine hémiplégique familiale et mutations du canal calcique neuronal CACNA1A (2003) (0)
Cavernous Malformations of the Nervous System: Clinical and molecular genetics of cerebral cavernous malformations (2011) (0)
List of Contributors (2020) (0)
Formes familiales de cavernomes cérébraux (2009) (0)
Mutations de CACNA1A et migraine hémiplégique familiale. (2001) (0)
[Immunogenetic bases of systemic lupus erythematosus in humans]. (1998) (0)
Les manifestations cliniques de CADASIL (1996) (0)
Étude des formes familiales de lupus : analyse de 125 familles multiplex (2000) (0)
Une nouvelle maladie multisystmique: la maladie des dpts hyalins sous-endothliaux (1998) (0)
Auto-valutazioni dell'articolo : Cavernomi del sistema nervoso centrale (2008) (0)
Migraine et génétique (1993) (0)
Diagnosis of Adult Onset Leukodystrophy in a Consecutive Study of 156 Patients (S60.006) (2013) (0)
Iconographies supplémentaires de l'article : Cavernomes du système nerveux central (2008) (0)
G - 31 Lésions cutanées et cavernomatose cérébrale multiple (CCM) de type II (2007) (0)
Étude des polymorphismes R/H131 et F/V176 des gènes FcγRIIA et FcγRIIIA au cours du lupus (2000) (0)
Cavernomi del sistema nervoso centrale (2008) (0)
Autoévaluations de l'article : Cavernomes du système nerveux central (2008) (0)
COL4A1 Mutations: Clinical and Radiological Phenotypes in a French Adult Cohort (S15.006) (2014) (0)
T-Cell Markers in Cerebrospinal Fluid of Patients with Multiple Sclerosis and other Neurological Diseases (1987) (0)
Mutations de CACNA1A et migraine hémiplégique familiale : place du diagnostic moléculaire (2002) (0)
Un nouveau signe cutané de cavernomatose familiale (2013) (0)
tude de la prvalence des anticorps antinuclosome chez les apparents de patients lupiques (1999) (0)
La microangiopathie pontine autosomique dominante (pontine autosomal dominant microangiopathy and leukoencephalopathy [PADMAL]) : expérience d’un hôpital général (2018) (0)
Animal Model Transgenic Mice Expressing Mutant Notch3 Develop Vascular Alterations Characteristic of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (2002) (0)
Accidents vasculaires cérébraux : nouveaux loci et nouveaux gènes (2006) (0)
@@112053@@ : Cavernomi del sistema nervoso centrale (2008) (0)
What is CADASIL (2009) (0)
Migraine hémiplégique familiale (2004) (0)
M - 7 Migraine hmiplgique familiale, pilepsie absence et ATP1A2 (2007) (0)
Migraine hémiplégique familiale : phénotype clinique associé à une nouvelle mutation du gène ATP1A2 (2016) (0)
Les thérapeutiques actuelles de la sclérose en plaques (1987) (0)
Impaired retinoic acid signaling in cerebral cavernous malformations (2023) (0)
Mutations hétérozygotes de COL4A2 dans des syndromes de Sneddon APL négatifs (2022) (0)
CL027 - Informité motrice cérébrale (IMC) et mutation du gène COL4A1 : diversité clinique dans une famille (2010) (0)
[Genetics of cerebral vascular accidents]. (2003) (0)
Monogenic Stroke Diseases (2021) (0)
A case of late-onset CADASIL with interhemi- spheric disconnection (2003) (0)
Antinuclear antibodies in multiple sclerosis. (1995) (0)
Le signal Notch, CADASIL et syndrome d'Alagille (1997) (0)

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