J. Maciazek

发表

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

J. Weissenbach, H. Chabriat, E. Cabanis, 1996, Nature.

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

J. Weissenbach, H. Chabriat, C. Cruaud, 1997, The Lancet.

Mutations within the MGC4607 gene cause cerebral cavernous malformations.

P. Frérebeau, V. Krivosic, M. Trémoulet, 2004, American journal of human genetics.

Mutations within the MGC 4607 Gene Cause Cerebral Cavernous Malformations

P. Frérebeau, V. Krivosic, M. Trémoulet, 2004 .

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

A. Joutel, V. Domenga, J. Maciazek, 2003, The American journal of pathology.

Impaired Vascular Mechanotransduction in a Transgenic Mouse Model of CADASIL Arteriopathy

B. Lévy, D. Henrion, A. Joutel, 2005, Stroke.

Notch3 Mutations in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a Mendelian Condition Causing Stroke and Vascular Dementia

J. Weissenbach, H. Chabriat, E. Cabanis, 1997, Annals of the New York Academy of Sciences.

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

B. Klonjkowski, A. Joutel, V. Domenga, 2004, Genes & development.

Notch 3 is required for arterial identity and maturation of vascular smooth muscle cells

B. Klonjkowski, A. Joutel, V. Domenga, 2004 .

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G‐C content

M. Lathrop, A. Joutel, J. Maciazek, 2000, Human mutation.

A novel hereditary small vessel disease of the brain

H. Chabriat, A. Joutel, J. Maciazek, 2006, Annals of neurology.

ATP1A2 mutations in 11 families with familial hemiplegic migraine

P. Aridon, G. Casari, M. de Fusco, 2005, Human mutation.

Animal Model Transgenic Mice Expressing Mutant Notch3 Develop Vascular Alterations Characteristic of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

A. Joutel, V. Domenga, J. Maciazek, 2002 .

Genotype–phenotype correlations in cerebral cavernous malformations patients

E. Vicaut, L. Brunereau, J. Maciazek, 2006, Annals of neurology.

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

L. Brunereau, A. Joutel, J. Maciazek, 2004, Annals of neurology.

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

E. Maréchal, J. Maciazek, E. Tournier-Lasserve, 1999, European Journal of Human Genetics.

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

J. Weissenbach, G. Lathrop, J. Melki, 1993, Nature Genetics.

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

A. Joutel, J. Maciazek, E. Tournier-Lasserve, 2002, European Journal of Human Genetics.

A gene for familial hemiplegic migraine maps to chromosome 19

J. Weissenbach, G. Lathrop, H. Chabriat, 1993, Nature Genetics.

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

R. Liblau, J. Maciazek, E. Tournier-Lasserve, 1991, European journal of immunology.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.

B. Dubois, M. Vérin, F. Viader, 1996, American journal of human genetics.