Florence Riant

Florence Riant

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Florence Riant

Florence Riant

Publications by authors named "Florence Riant"

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

Neuropediatrics 2019 Oct 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI Listing
October 2019

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

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Cognitive impairment in children with CACNA1A mutations.

Dev Med Child Neurol 2019 May 21. Epub 2019 May 21.

Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1111/dmcn.14261DOI Listing
May 2019

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

J Stroke Cerebrovasc Dis 2019 Feb 28;28(2):e3-e4. Epub 2018 Nov 28.

Neurology Department, Bicêtre Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.10.021DOI Listing
February 2019

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

Dev Med Child Neurol 2018 12 21;60(12):1256-1263. Epub 2018 Jun 21.

Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1111/dmcn.13935DOI Listing
December 2018

Progressive ataxia related to PRRT2 gene mutation.

J Neurol Sci 2016 Aug 31;367:220-1. Epub 2016 May 31.

Department of genetics, Hopital Lariboisiere, APHP Groupe Hospitalier Lariboisiere - Saint Louis - Fernand Widal, 75475 Paris Cedex 10, France.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X163032
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http://dx.doi.org/10.1016/j.jns.2016.05.058DOI Listing
August 2016

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

Dev Med Child Neurol 2016 06 27;58(6):639-44. Epub 2016 Jan 27.

TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1111/dmcn.13033DOI Listing
June 2016

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

J Neurol Neurosurg Psychiatry 2015 Jul 16;86(7):782-5. Epub 2015 Jan 16.

Service de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1136/jnnp-2014-309025DOI Listing
July 2015

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

Neuroradiol J 2015 Jun;28(3):289-93

Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Italy Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University, Italy

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http://dx.doi.org/10.1177/1971400915591688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757286PMC
June 2015

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

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

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http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

The multiple faces of the ATP1A3-related dystonic movement disorder.

Mov Disord 2013 Sep 8;28(10):1457-9. Epub 2013 Mar 8.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau Paris, France.

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http://dx.doi.org/10.1002/mds.25396DOI Listing
September 2013

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

Eur J Paediatr Neurol 2013 May 19;17(3):254-8. Epub 2012 Nov 19.

Unit of Neurology, Dept. of Pediatrics, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.010DOI Listing
May 2013

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

Neurogenetics 2013 May 18;14(2):133-41. Epub 2013 Apr 18.

AP-HP, GH Saint-Louis-Lariboisière-Fernand Widal, Laboratoire de Génétique Moléculaire, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris, France.

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http://dx.doi.org/10.1007/s10048-013-0362-0DOI Listing
May 2013

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

Stroke 2012 Dec 13;43(12):3196-9. Epub 2012 Nov 13.

Department of Neurology, APHP-Hôpital Lariboisière, and Univ Paris Diderot-Sorbonne Paris Cité, 2 rue Ambroise Paré, 75475 Paris cedex 10, France.

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http://dx.doi.org/10.1161/STROKEAHA.112.668533DOI Listing
December 2012

PRRT2 mutations cause hemiplegic migraine.

Neurology 2012 Nov 17;79(21):2122-4. Epub 2012 Oct 17.

Groupe Hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, Paris.

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http://dx.doi.org/10.1212/WNL.0b013e3182752cb8DOI Listing
November 2012

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

Eur Neurol 2010 15;64(2):114-6. Epub 2010 Jul 15.

Service de Neurologie C, Hôpital Neurologique P. Wertheimer, Bron, France.

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http://dx.doi.org/10.1159/000315145DOI Listing
November 2010

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

FEBS J 2010 Mar 22;277(5):1070-5. Epub 2010 Jan 22.

AP-HP, Hôpital Lariboisière, Laboratoire de Génétique, Paris, France.

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http://dx.doi.org/10.1111/j.1742-4658.2009.07535.xDOI Listing
March 2010

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Neurogenetics 2010 Feb 25;11(1):101-6. Epub 2009 Jul 25.

AP-HP, Groupe hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, GHU Nord, Paris, France.

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http://dx.doi.org/10.1007/s10048-009-0208-yDOI Listing
February 2010

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

Arch Neurol 2008 Jun;65(6):817-20

Laboratoire de Génétique, Groupe Hospitalier Lariboisière-Fernand Widal, Groupement Hospitalier-Universitaire Nord, Assistance Publique-Hôpitaux de Paris, 2 Rue Ambroise Paré, 75010 Paris, France.

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http://dx.doi.org/10.1001/archneur.65.6.817DOI Listing
June 2008

Genotype-phenotype correlations in cerebral cavernous malformations patients.

Ann Neurol 2006 Nov;60(5):550-6

Institut National de la Sante et de la Recherche Médicale U740, Faculté de Médecine Lariboisière, Paris, France.

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http://dx.doi.org/10.1002/ana.20947DOI Listing
November 2006

A novel hereditary small vessel disease of the brain.

Ann Neurol 2006 Feb;59(2):353-7

Service de Neurologie, Laboratoire de génétique, Hôpital Lariboisière, Assistance Publique des Hôpitaux de Paris, France.

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http://doi.wiley.com/10.1002/ana.20775
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http://dx.doi.org/10.1002/ana.20775DOI Listing
February 2006

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Hum Mutat 2005 Sep;26(3):281

Laboratoire de Génétique Moléculaire, Hôpital Lariboisière AP-HP, Paris, France.

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http://dx.doi.org/10.1002/humu.9361DOI Listing
September 2005

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.

Am J Hum Genet 2004 Feb 8;74(2):338-47. Epub 2004 Jan 8.

Institut National de la Santé et de la Recherche Médicale, INSERM E365, Faculté de Médecine Lariboisière, and Laboratoire de Cytogénétique, Hôpital Lariboisière, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970761844
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181931PMC
http://dx.doi.org/10.1086/381506DOI Listing
February 2004