F. Riant

发表

Clinical phenotypes of infantile onset CACNA1A-related disorder.

E. Bertini, D. Lev, B. Pode-Shakked, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The multiple faces of the ATP1A3‐related dystonic movement disorder

M. Vidailhet, B. Fontaine, E. Roze, 2013, Movement disorders : official journal of the Movement Disorder Society.

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

E. Tournier-Lasserve, C. Denier, G. Nasser, 2019, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

C. Tzourio, H. Chabriat, A. Soumaré, 2012, Stroke.

Large CACNA 1 A Deletion in a Family With Episodic Ataxia Type 2

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2008 .

The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

E. Dezamis, P. Varlet, N. Boddaert, 2022, Acta Neuropathologica Communications.

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

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2013, neurogenetics.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

A. Biraben, L. Valton, A. Vermersch, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cognitive impairment in children with CACNA1A mutations

B. Echenne, N. Nagot, E. Tournier-Lasserve, 2019, Developmental medicine and child neurology.

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

N. Nagot, E. Tournier-Lasserve, A. Roubertie, 2018, Developmental medicine and child neurology.

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

F. Chapon, M. Orth, H. Fournier, 2013, Molecular Syndromology.

Mutations in the netrin-1 gene cause congenital mirror movements

M. Vidailhet, S. Robertson, C. Jasoni, 2017, The Journal of clinical investigation.

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

F. Rivier, B. Echenne, E. Tournier-Lasserve, 2008, Journal of Neurology.

Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy

M. Humbert, B. Girerd, L. Savale, 2013, European Respiratory Journal.

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

E. Bertini, C. Castiglioni, A. Terracciano, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A novel hereditary small vessel disease of the brain

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

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.

A. Joutel, V. Domenga, E. Tournier-Lasserve, 2004, American journal of human genetics.

Late onset hereditary episodic ataxia

K. Vahedi, M. Bousser, E. Tournier-Lasserve, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

Progressive ataxia related to PRRT2 gene mutation

E. Thouvenot, G. Castelnovo, F. Riant, 2016, Journal of the Neurological Sciences.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

B. Echenne, C. Korff, N. Leboucq, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide

D. Guehl, B. Bioulac, P. Burbaud, 2006, Journal of Neurology.

Elicited repetitive daily blindness

C. Depienne, A. Gaudric, K. Vahedi, 2009, Neurology.

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

J. Dartigues, S. Hébert, J. Lambert, 2015, European Journal of Human Genetics.

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

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2008, Archives of neurology.

Hemiplegic Migraine Associated With PRRT2 Variations

F. Viallet, S. Lamoureux, S. Auvin, 2022, Neurology.

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

C. Depienne, A. Ducros, E. Tournier-Lasserve, 2010, Neurology.

Defective membrane expression of the Na+-HCO3− cotransporter NBCe1 is associated with familial migraine

K. Mikoshiba, W. van Paesschen, B. Bergmans, 2010, Proceedings of the National Academy of Sciences.

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

K. Vahedi, E. Tournier-Lasserve, B. Neville, 2010, Developmental medicine and child neurology.

The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature

C. Hommet, A. Autret, F. Riant, 2009, Cephalalgia : an international journal of headache.

Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

D. Hannequin, L. Guyant‐Maréchal, D. Parain, 2008, Cephalalgia : an international journal of headache.

ATP1A2 mutations in 11 families with familial hemiplegic migraine

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

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

DCC in 26 cases Congenital mirror movements: Mutational analysis of RAD51 and

C. Depienne, A. Méneret, F. Riant, 2014 .

Genotype–phenotype correlations in cerebral cavernous malformations patients

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

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

R. Peyron, P. Bertholon, E. Tournier-Lasserve, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

A. Nouet, F. Viallet, D. Hervé, 2020, Journal of Medical Genetics.

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

L. Pasquier, E. Tournier-Lasserve, S. Odent, 2014, Clinical genetics.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

M. Anheim, E. Apartis, E. Roze, 2011, Journal of Neurology.

The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

E. Dezamis, P. Varlet, N. Boddaert, 2022, Acta neuropathologica communications.

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

L. French, E. Tournier-Lasserve, J. Kamarashev, 2014, European Journal of Dermatology.

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

E. Tournier-Lasserve, X. Ayrignac, F. Riant, 2010, The FEBS journal.

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation

C. Korff, F. Lehmann-Horn, D. Ville, 2019, Neuropediatrics.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

A. Spurdle, C. Houdayer, D. Vidaud, 2022, Human mutation.

Activating NOTCH3 mutation in a patient with small‐vessel‐disease of the Brain

H. Chabriat, A. Joutel, M. Bousser, 2008, Human mutation.

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

C. Aloui, O. Quenez, D. Hervé, 2020, Journal of Medical Genetics.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

Eye movement disorders are an early manifestation of CACNA1A mutations in children

N. Maksemous, L. Griffiths, E. Tantsis, 2016, Developmental medicine and child neurology.

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

E. Broussolle, E. Tournier-Lasserve, F. Riant, 2010, European Neurology.

Identification of CACNA1A large deletions in four patients with episodic ataxia

A. Toutain, K. Vahedi, E. Tournier-Lasserve, 2010, neurogenetics.

PRRT2 mutations and paroxysmal disorders

M. Vidailhet, C. Depienne, E. Roze, 2013, European journal of neurology.

P. Meyer, C. Coubes, A. Roubertie, 2020, Annals of clinical and translational neurology.

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

F. Garaci, R. Floris, F. Brancati, 2015, The neuroradiology journal.

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

P. Massin, F. Chapon, A. Gaudric, 2003, Neurology.

PRRT2 mutations cause hemiplegic migraine

C. Depienne, A. Trébuchon, P. Sabouraud, 2012, Neurology.

Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study

M. Vidailhet, P. Damier, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

M. Vidailhet, V. Fraix, I. Arnulf, 2019, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

Movement disorders in patients with alternating hemiplegia

L. Vallée, M. Bourgeois, A. Arzimanoglou, 2020, Neurology.

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

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2013, neurogenetics.

Hemiplegic Migraine Associated With PRRT2 Mutations: A Clinical and Genetic Study.

F. Viallet, S. Lamoureux, S. Auvin, 2021, Neurology.

Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

H. Chabriat, E. Tournier-Lasserve, C. Denier, 2020, Revue neurologique.

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

O. Lambotte, M. Tardieu, E. Tournier-Lasserve, 2015, Revue neurologique (Paris).

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

O. Lambotte, M. Tardieu, E. Tournier-Lasserve, 2015, Revue neurologique.

A novel large deletion in CCM1 gene in a Tunisian family.

S. Abdelhak, E. Tournier-Lasserve, I. Brini, 2018, Revue neurologique.

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

C. Gerloff, M. Orth, E. Tournier-Lasserve, 2010, Journal of Neurology.

Familial form of typical childhood absence epilepsy in a consanguineous context

C. Depienne, R. Gouider, E. Tournier-Lasserve, 2010, Epilepsia.

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

C. Aloui, J. Balligand, B. Villoutreix, 2023, Human Genomics.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

M. Clanet, J. Neau, B. Fontaine, 2009, Neurology.

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

M. Frosch, D. Campion, D. Hannequin, 2017, Journal of Alzheimer's disease : JAD.

Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia

S. Lehéricy, S. Meunier, M. Vidailhet, 2022, Neurology.

Genetics of Moyamoya Beyond RNF213: Monogenic Moyamoya Syndromes

D. Hervé, L. Grangeon, E. Tournier-Lasserve, 2017 .

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

D. Vidaud, E. Tournier-Lasserve, C. Denier, 2015, Journal of the Neurological Sciences.

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

C. Aloui, D. Vidaud, L. Grangeon, 2019, Stroke.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Emicrania emiplegica familiare

L. Grangeon, A. Ducros, F. Riant, 2023, EMC - Neurologia.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

P. Jouk, D. Lacombe, C. Goizet, 2019, European journal of medical genetics.

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia

J. Soulier, S. Demeret, A. Philippi, 2023, Journal of neurology, neurosurgery, and psychiatry.

Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor

Wei Pan, E. Tournier-Lasserve, M. Kahn, 2014, Stroke.

A Bulgarian family with epileptic seizures as a first manifestation of familial cerebral cavernous malformations

Marieta Peycheva, Z. Zahariev, F. Riant, 2018, Česká a slovenská neurologie a neurochirurgie.

Activating NOTCH3 mutation in a patient with small‐vessel‐disease of the Brain

H. Chabriat, A. Joutel, M. Bousser, 2008, Human mutation.

Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

L. Guyant‐Maréchal, F. Riant, Axel Lebas, 2008, Cephalalgia : an international journal of headache.

MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

M. Versino, G. Corazza, J. Neau, 2009, Neurology.