Stephanie Guey

Stephanie Guey

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Stephanie Guey

Stephanie Guey

Publications by authors named "Stephanie Guey"

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16Publications

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Rare variant association testing for multicategory phenotype.

Authors:
Ozvan Bocher Gaëlle Marenne Aude Saint Pierre Thomas E Ludwig Stéphanie Guey Elisabeth Tournier-Lasserve Hervé Perdry Emmanuelle Génin

Genet Epidemiol 2019 09 13;43(6):646-656. Epub 2019 May 13.

Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.

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http://dx.doi.org/10.1002/gepi.22210DOI Listing
September 2019

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Authors:
Amélie Pinard Stéphanie Guey Dongchuan Guo Alana C Cecchi Natasha Kharas Stephanie Wallace Ellen S Regalado Ellen M Hostetler Anjail Z Sharrief Françoise Bergametti Manoelle Kossorotoff Dominique Hervé Markus Kraemer Michael J Bamshad Deborah A Nickerson Edward R Smith Elisabeth Tournier-Lasserve Dianna M Milewicz

Genet Med 2019 Sep 2. Epub 2019 Sep 2.

Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0639-2DOI Listing
September 2019

Cerebral Amyloid Angiopathy Related Inflammation With Prominent Meningeal Involvement. A Report of 2 Cases.

Authors:
Agnès Aghetti Damien Sène Marc Polivka Natalia Shor Sarah Lechtman Hugues Chabriat Eric Jouvent Stéphanie Guey

Front Neurol 2019 23;10:984. Epub 2019 Sep 23.

APHP, Lariboisière Hospital, Department of Neurology and DHU NeuroVasc Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.3389/fneur.2019.00984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768005PMC
September 2019

Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.

Authors:
Jeffrie Hadisurya Stephanie Guey Lou Grangeon Dagmar Wieczorek Michaelle Corpechot Jan Claudius Schwitalla Markus Kraemer

Childs Nerv Syst 2019 Jul 29;35(7):1231-1237. Epub 2019 Apr 29.

Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Alfried-Krupp-Str. 21, 45117, Essen, Germany.

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http://dx.doi.org/10.1007/s00381-019-04145-9DOI Listing
July 2019

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

Authors:
Lou Grangeon Stéphanie Guey Jan Claudius Schwitalla Françoise Bergametti Minh Arnould Michaelle Corpechot Jessica Hadjadj Florence Riant Chaker Aloui Severine Drunat Dominique Vidaud Elisabeth Tournier-Lasserve Markus Kraemer

Stroke 2019 Apr;50(4):789-796

Department of Neurology, Alfried Krupp Hospital Essen, Germany (J.C.S., M.K.).

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http://dx.doi.org/10.1161/STROKEAHA.118.023972DOI Listing
April 2019

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.

Authors:
Stéphanie Guey Lou Grangeon Francis Brunelle Françoise Bergametti Jeanne Amiel Stanislas Lyonnet Audrey Delaforge Minh Arnould Béatrice Desnous Céline Bellesme Dominique Hervé Jan C Schwitalla Markus Kraemer Elisabeth Tournier-Lasserve Manoelle Kossorotoff

J Med Genet 2017 08 25;54(8):550-557. Epub 2017 Mar 25.

French Center for Pediatric Stroke, University Hospital Necker-Enfants malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104432DOI Listing
August 2017

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Authors:
Stéphanie Guey Markus Kraemer Dominique Hervé Thomas Ludwig Manoëlle Kossorotoff Françoise Bergametti Jan Claudius Schwitalla Simone Choi Lucile Broseus Isabelle Callebaut Emmanuelle Genin Elisabeth Tournier-Lasserve

Eur J Hum Genet 2017 08 21;25(8):995-1003. Epub 2017 Jun 21.

Inserm UMR-S1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2017.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567158PMC
August 2017

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.

Authors:
Anna Bersano Stephanie Guey Gloria Bedini Sara Nava Dominique Hervé Peter Vajkoczy Turgut Tatlisumak Marika Sareela Albert van der Zwan Catharina J M Klijn Kees P J Braun Annick Kronenburg Francesco Acerbi Martin M Brown Lionel Calviere Charlotte Cordonnier Hilde Henon Laurent Thines Nadia Khan M Czabanka Markus Kraemer Robert Simister Paolo Prontera E Tournier-Lasserve Eugenio Parati

Cerebrovasc Dis 2016 12;41(3-4):105-18. Epub 2016 Jan 12.

Cerebrovascular Disease Unit, IRCCS Foundation C. Besta, Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1159/000442298DOI Listing
December 2016

Prevalence and characteristics of migraine in CADASIL.

Authors:
Stephanie Guey Jérôme Mawet Dominique Hervé Marco Duering Ophelia Godin Eric Jouvent Christian Opherk Nassira Alili Martin Dichgans Hugues Chabriat

Cephalalgia 2016 Oct 11;36(11):1038-1047. Epub 2016 Jul 11.

1 Department of Neurology, GH Saint-Louis-Lariboisière, Assistance Publique des Hôpitaux de Paris APHP, Université Paris Denis Diderot and DHU NeuroVasc Sorbonne Paris-Cité, France.

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http://dx.doi.org/10.1177/0333102415620909DOI Listing
October 2016

Can whole-exome sequencing data be used for linkage analysis?

Authors:
Steven Gazal Simon Gosset Edgard Verdura Françoise Bergametti Stéphanie Guey Marie-Claude Babron Elisabeth Tournier-Lasserve

Eur J Hum Genet 2016 Apr 15;24(4):581-6. Epub 2015 Jul 15.

INSERM, UMR 1161, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929867PMC
April 2016

Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity.

Authors:
Adeline Granzotto Mohamed Amine Benadjaoud Guillaume Vogin Clément Devic Mélanie L Ferlazzo Larry Bodgi Sandrine Pereira Laurène Sonzogni Fabien Forcheron Muriel Viau Aurélie Etaix Karim Malek Laurence Mengue-Bindjeme Clémence Escoffier Isabelle Rouvet Marie-Thérèse Zabot Aurélie Joubert Anne Vincent Nicole Dalla Venezia Michel Bourguignon Edme-Philippe Canat Anne d'Hombres Estelle Thébaud Daniel Orbach Dominique Stoppa-Lyonnet Abderraouf Radji Eric Doré Yoann Pointreau Céline Bourgier Pierre Leblond Anne-Sophie Defachelles Cyril Lervat Stéphanie Guey Loic Feuvret Françoise Gilsoul Claire Berger Coralie Moncharmont Guy de Laroche Marie-Virginie Moreau-Claeys Nicole Chavaudra Patrick Combemale Marie-Claude Biston Claude Malet Isabelle Martel-Lafay Cécile Laude Ngoc-Hanh Hau-Desbat Amira Ziouéche Ronan Tanguy Marie-Pierre Sunyach Séverine Racadot Pascal Pommier Line Claude Frédéric Baleydier Bertrand Fleury Renaud de Crevoisier Jean-Marc Simon Pierre Verrelle Didier Peiffert Yazid Belkacemi Jean Bourhis Eric Lartigau Christian Carrie Florent De Vathaire François Eschwege Alain Puisieux Jean-Léon Lagrange Jacques Balosso Nicolas Foray

Int J Radiat Oncol Biol Phys 2016 Mar 14;94(3):450-60. Epub 2015 Nov 14.

INSERM, UMR1052, Cancer Research Centre of Lyon, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijrobp.2015.11.013DOI Listing
March 2016

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.

Authors:
Laure Bottin Sabine Prud'hon Stéphanie Guey Claire Giannesini Barry Wolf Kirit Pindolia Bruno Stankoff

Mult Scler 2015 Oct 22;21(12):1604-7. Epub 2015 Jul 22.

Department of Neurology, Saint-Antoine University Hospital, Paris, France/Sorbonne Universités; UPMC Univ Paris 06; UMR S 1127; CNRS UMR 7225; ICM, F-75013, Paris, France

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http://dx.doi.org/10.1177/1352458515596457DOI Listing
October 2015

Moyamoya disease and syndromes: from genetics to clinical management.

Authors:
Stéphanie Guey Elisabeth Tournier-Lasserve Dominique Hervé Manoelle Kossorotoff

Appl Clin Genet 2015 16;8:49-68. Epub 2015 Feb 16.

Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.2147/TACG.S42772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337618PMC
March 2015

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

Authors:
Dominique Hervé Anne Philippi Reda Belbouab Michel Zerah Stéphane Chabrier Sophie Collardeau-Frachon Francoise Bergametti Aurore Essongue Eliane Berrou Valérie Krivosic Christian Sainte-Rose Emmanuel Houdart Frédéric Adam Kareen Billiemaz Marilyne Lebret Sabine Roman Sandrine Passemard Gwenola Boulday Audrey Delaforge Stéphanie Guey Xavier Dray Hugues Chabriat Peter Brouckaert Maryjke Bryckaert Elisabeth Tournier-Lasserve

Am J Hum Genet 2014 Mar 27;94(3):385-94. Epub 2014 Feb 27.

Institut National de la Santé et de la Recherche Médicale U1161, 75010 Paris, France; UMR-S1161, Génétique des Maladies Vasculaires, Université Paris Diderot, Sorbonne Paris Cité, 75010 Paris, France; Service de Génétique Moléculaire Neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Assistance Publique - Hôpitaux de Paris, 75010 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951937PMC
March 2014

Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign.

Authors:
Aurélie Méneret Stéphanie Guey Bertrand Degos

Neurology 2013 Mar;80(11):1067

Département de Neurologie, Hôpital de la Salpêtrière, Paris.

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http://dx.doi.org/10.1212/WNL.0b013e31828728bcDOI Listing
March 2013

A rare cause of gait ataxia.

Authors:
Charles Roux Stéphanie Guey Isabelle Crassard Charlotte Hautefort Frédéric Lioté Eric Jouvent

Lancet 2011 Oct;378(9798):1274

Department of Neurology, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1016/S0140-6736(11)61024-6DOI Listing
October 2011