Gabrielle Rudolf

Gabrielle Rudolf

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Gabrielle Rudolf

Gabrielle Rudolf

Publications by authors named "Gabrielle Rudolf"

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Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

Epileptic Disord 2019 Jun;21(S1):41-47

Aix-Marseille University, INSERM UMR1249, INMED, Marseille, France.

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http://dx.doi.org/10.1684/epd.2019.1056DOI Listing
June 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A.

Epileptic Disord 2017 Sep;19(3):345-350

Laboratoire de Cartographie Fonctionnelle du Cerveau, Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Department of Pediatric Neurology, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1684/epd.2017.0931DOI Listing
September 2017

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

BMC Neurol 2016 Nov 23;16(1):238. Epub 2016 Nov 23.

Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098, Strasbourg Cedex, France.

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http://dx.doi.org/10.1186/s12883-016-0748-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120508PMC
November 2016

XPR1 mutations are a rare cause of primary familial brain calcification.

J Neurol 2016 Aug 26;263(8):1559-64. Epub 2016 May 26.

Faculté de Médecine, Inserm U1079, University of Rouen, IRIB, Normandy University, 22 Boulevard Gambetta, 76183, Rouen, France.

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http://link.springer.com/10.1007/s00415-016-8166-4
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http://dx.doi.org/10.1007/s00415-016-8166-4DOI Listing
August 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

J Neuromuscul Dis 2016 05;3(2):275-281

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3233/JND-150143DOI Listing
May 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

Galanin pathogenic mutations in temporal lobe epilepsy.

Hum Mol Genet 2015 Jun 17;24(11):3082-91. Epub 2015 Feb 17.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddv060DOI Listing
June 2015

Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology.

Epilepsia 2014 Aug;55 Suppl 3:21-3

Pediatric Neurology, Department of Pediatrics, University Hospital of Strasbourg, Strasbourg, France; Referent Center for Rare Epilepsies, Associated, Strasbourg, France.

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http://dx.doi.org/10.1111/epi.12724DOI Listing
August 2014

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

J Neurol 2014 Feb 24;261(2):435-7. Epub 2013 Dec 24.

Service de Neurologie, CHU de Strasbourg, Hôpital de Hautepierre, 1, Avenue Molière, 67098, Strasbourg Cedex, France,

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http://link.springer.com/content/pdf/10.1007/s00415-013-7216
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http://link.springer.com/10.1007/s00415-013-7216-4
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http://dx.doi.org/10.1007/s00415-013-7216-4DOI Listing
February 2014

No evidence for genetic association between glutamate transporter EAAT2 and Devic's neuromyelitis optica in caucasians and afro-caribbeans.

Mult Scler Relat Disord 2014 Jan 18;3(1):89-93. Epub 2013 Jul 18.

Caen University Hospital, Department of Neurology, Caen F-14000, France; INSERM U919, Serine Proteases and Pathophysiology of the Neurovascular Unit, GIP Cyceron, Université de Caen Basse-Normandie, Caen F-14000, France.. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2013.06.012DOI Listing
January 2014

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

Nat Genet 2013 May 31;45(5):552-5. Epub 2013 Mar 31.

Institut National de la Santé et de la Recherche Médicale (INSERM) U975, Institut du Cerveau et de la Moelle Epinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/ng.2601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010101PMC
May 2013

Evaluation of new immunological targets in neuromyelitis optica.

J Pept Sci 2013 Jan 28;19(1):25-32. Epub 2012 Nov 28.

Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 avenue Molière, 67098, Strasbourg, France.

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http://dx.doi.org/10.1002/psc.2470DOI Listing
January 2013

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.

Epilepsia 2009 Aug;50 Suppl 7:25-8

Service de Neurologie, Hôpitaux Universitaires de Strasbourg, 1 place de l'Hôpital BP 426, Strasbourg cedex, France.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02214.xDOI Listing
August 2009

Pentylenetetrazol-induced status epilepticus up-regulates the expression of glucose transporter mRNAs but not proteins in the immature rat brain.

Brain Res 2006 Apr 6;1082(1):32-42. Epub 2006 Mar 6.

INSERM U 666, Faculty of Medicine, 11 rue Humann, 67085 Strasbourg Cedex, France.

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http://dx.doi.org/10.1016/j.brainres.2006.01.078DOI Listing
April 2006

Isolated paroxysmal arousals as focal epilepsy.

Epileptic Disord 2006 Mar;8(1):45-52

Department of Neurology, University of Strasbourg, France.

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March 2006

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13.

Hum Mol Genet 2005 Jan 17;14(1):171-8. Epub 2004 Nov 17.

Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddi018DOI Listing
January 2005

Vigabatrin, the GABA-transaminase inhibitor, damages cone photoreceptors in rats.

Ann Neurol 2004 May;55(5):695-705

Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, INSERM U-592, UPMC, Bâtiment Kourislky, Paris Cedex 12, Paris, France.

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http://dx.doi.org/10.1002/ana.20081DOI Listing
May 2004