Lucie Guyant-Marechal

Lucie Guyant-Marechal

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Lucie Guyant-Marechal

Lucie Guyant-Marechal

Publications by authors named "Lucie Guyant-Marechal"

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28Publications

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Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Neurobiol Aging 2018 12 30;72:187.e11-187.e14. Epub 2018 Jun 30.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.037DOI Listing
December 2018

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.

J Clin Neuromuscul Dis 2017 Jun;18(4):199-206

Departments of *Cardiology and †Neurology, CHU de Caen, Caen, France; ‡Department of Neurology, CHU Charles Nicolle, Rouen, France; §Department of Neurology, CHU d'Amiens, Amiens, France; and ¶Department of Neurology, Rehabilitation Neuromuscular Disease Center, CHU de Caen, Caen, France.

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http://dx.doi.org/10.1097/CND.0000000000000144DOI Listing
June 2017

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Neuromuscul Disord 2017 Jan 14;27(1):78-82. Epub 2016 Oct 14.

Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.10.006DOI Listing
January 2017

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack.

Neurophysiol Clin 2016 Nov 5;46(4-5):307-311. Epub 2016 May 5.

Department of neurophysiology, Rouen university hospital-Charles-Nicolle, 1, rue de Germont, 76031 Rouen cedex, France.

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http://dx.doi.org/10.1016/j.neucli.2016.03.004DOI Listing
November 2016

Delayed-onset Friedreich's ataxia revisited.

Mov Disord 2016 Jan 21;31(1):62-9. Epub 2015 Sep 21.

Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; and Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/mds.26382DOI Listing
January 2016

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Brain 2015 Aug 10;138(Pt 8):2347-58. Epub 2015 Jun 10.

1 INSERM UMR 1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Paris, France 2 Université Paris Diderot, Sorbonne Paris Cité, UMR-S1161, Paris, France 5 AP-HP, Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Service de Génétique Moléculaire Neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil (CERVCO), Paris, France

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http://dx.doi.org/10.1093/brain/awv155DOI Listing
August 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

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

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Arch Neurol 2012 Apr;69(4):500-8

Department of Biostatistics and Medical Informatics, and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris, France.

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http://dx.doi.org/10.1001/archneurol.2011.2713DOI Listing
April 2012

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.

Am J Med Genet A 2011 Apr 15;155A(4):815-8. Epub 2011 Mar 15.

Department of Neurology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.33911DOI Listing
April 2011

Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia.

Br J Psychiatry 2010 Jul;197(1):28-35

INSERM U614, University of Medicine, Rouen, and Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France.

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https://www.cambridge.org/core/product/identifier/S000712500
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http://dx.doi.org/10.1192/bjp.bp.109.068981DOI Listing
July 2010

Movement disorders and Creutzfeldt-Jakob disease: a review.

Parkinsonism Relat Disord 2006 Mar 20;12(2):65-71. Epub 2005 Dec 20.

Department of Neurology, Rouen University Hospital, Charles Nicolle, 1 Germont Street 76031 Rouen Cedex, France.

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http://dx.doi.org/10.1016/j.parkreldis.2005.10.004DOI Listing
March 2006

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Am J Med Genet A 2005 Dec;139A(2):114-7

Department of Neurology, Rouen University Hospital, France.

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http://dx.doi.org/10.1002/ajmg.a.30797DOI Listing
December 2005