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.

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

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

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.

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

Prevalence and characteristics of migraine in CADASIL.

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

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

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.

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.

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.

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.

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.

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