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Neurogenetics
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April 19, 2013
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
Florence Riant, Michaelle Cecillon, Pascale Saugier-Veber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 28, 2012
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins
Claudia Castiglioni, Isabel López, Florence Riant, et al.
Archives of Neurology
|
June 11, 2008
Large CACNA1A deletion in a family with episodic ataxia type 2
Florence Riant, Reda Mourtada, Pascale Saugier-Veber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 29, 2013
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation
Virginie Lambrecq, Florence Riant, Elisabeth Tournier-Lasserve, et al.
The FEBS Journal
|
January 26, 2010
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
Florence Riant, Francoise Bergametti, Xavier Ayrignac, et al.
American Journal of Human Genetics
|
January 10, 2004
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
Anne Joutel, Marie Monet, Valérie Domenga, et al.
Journal of Neurology
|
July 13, 2010
Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family
Chi-un Choe, Florence Riant, Christian Gerloff, et al.
Journal of the Neurological Sciences
|
July 18, 2016
Progressive ataxia related to PRRT2 gene mutation
Giovanni Castelnovo, Dimitri Renard, Marie De Verdal, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|
December 4, 2018
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation
Nicolas Legris, Olivier Chassin, Ghaidaa Nasser, et al.
Developmental Medicine and Child Neurology
|
October 9, 2009
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation
Timothy J Malpas, Florence Riant, Elisabeth Tournier-Lasserve, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 68) with videos related to
Sort By:
Page
of 7
Neurogenetics
|
April 19, 2013
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
Florence Riant, Michaelle Cecillon, Pascale Saugier-Veber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 28, 2012
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins
Claudia Castiglioni, Isabel López, Florence Riant, et al.
Archives of Neurology
|
June 11, 2008
Large CACNA1A deletion in a family with episodic ataxia type 2
Florence Riant, Reda Mourtada, Pascale Saugier-Veber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 29, 2013
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation
Virginie Lambrecq, Florence Riant, Elisabeth Tournier-Lasserve, et al.
The FEBS Journal
|
January 26, 2010
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
Florence Riant, Francoise Bergametti, Xavier Ayrignac, et al.
American Journal of Human Genetics
|
January 10, 2004
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
Anne Joutel, Marie Monet, Valérie Domenga, et al.
Journal of Neurology
|
July 13, 2010
Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family
Chi-un Choe, Florence Riant, Christian Gerloff, et al.
Journal of the Neurological Sciences
|
July 18, 2016
Progressive ataxia related to PRRT2 gene mutation
Giovanni Castelnovo, Dimitri Renard, Marie De Verdal, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|
December 4, 2018
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation
Nicolas Legris, Olivier Chassin, Ghaidaa Nasser, et al.
Developmental Medicine and Child Neurology
|
October 9, 2009
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation
Timothy J Malpas, Florence Riant, Elisabeth Tournier-Lasserve, et al.
Page
of 7