Agathe Roubertie

Agathe Roubertie

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Agathe Roubertie

Agathe Roubertie

Publications by authors named "Agathe Roubertie"

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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

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

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

J Neurol Sci 2018 08 22;391:31-39. Epub 2018 May 22.

Département de Neurochirurgie, Centre Hospitalier Régional Montpellier, France; Unité de Recherche sur les Comportements et Mouvements Anormaux (URCMA), France; UMR 5203 CNRS-U1191 INSERM-UM-Institut de Génomique Fonctionnelle - IGF, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.05.018DOI Listing
August 2018

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.

J Am Acad Dermatol 2017 Sep 11;77(3):464-472.e3. Epub 2017 May 11.

Department of Dermatology, Saint-Eloi Hospital and Montpellier University Hospital, Montpellier, France; Institut National de la Santé et de la Recherche Médicale (INSERM) U1058, Montpellier, France; Regional Center of Competence for Rare Skin Disorders, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2017.04.005DOI Listing
September 2017

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Ophthalmology 2016 09 7;123(9):1989-98. Epub 2016 Jul 7.

Maladies Sensorielles Génétiques, CHRU, Montpellier, France; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Université Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.05.036DOI Listing
September 2016

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.

J Neuroradiol 2016 Jun 25;43(3):176-85. Epub 2016 Apr 25.

University Hospital of Montpellier, Department of Neuroradiology, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurad.2016.03.006DOI Listing
June 2016

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Epilepsia 2016 05 31;57(5):e87-93. Epub 2016 Mar 31.

Mediterranean Neurobiology Institute INMED, Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1111/epi.13366DOI Listing
May 2016

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Front Genet 2015 19;6:311. Epub 2015 Oct 19.

Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier Montpellier, France ; PREMMi, CNRS UMR 6214 - INSERM U1083, Département de Biochimie et Génétique, Université d'Angers, CHU d'Angers Angers, France.

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http://dx.doi.org/10.3389/fgene.2015.00311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609881PMC
November 2015

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

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Hum Mol Genet 2015 Jul 21;24(14):3948-55. Epub 2015 Apr 21.

Institut des Neurosciences de Montpellier, Université de Montpellier I et II, BP 74103, 34 091 Montpellier Cedex 5, France, Service de Neuropédiatrie, CHU Gui de Chauliac, 34 295 Montpellier, France,

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http://dx.doi.org/10.1093/hmg/ddv133DOI Listing
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci 2015 Feb 13;349(1-2):154-60. Epub 2015 Jan 13.

INSERM, U-1051, Institut des Neurosciences, Montpellier, France; CHU Montpellier, Centre of Reference for Genetic Sensory Diseases, Montpellier, France.

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http://dx.doi.org/10.1016/j.jns.2015.01.008DOI Listing
February 2015

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

J Am Acad Dermatol 2013 Nov 21;69(5):768-775. Epub 2013 Aug 21.

Center of Competence for Neurofibromatosis, CHU Montpellier, Montpellier, France; University of Montpellier 1, Department of Dermatology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France; Center of Competence for Pediatric Genetic Skin Disorders, CHU Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2013.06.039DOI Listing
November 2013

Perfusion-weighted MR imaging in persistent hemiplegic migraine.

Neuroradiology 2012 Mar 11;54(3):255-60. Epub 2011 Aug 11.

Service de Neuroradiologie, Hôpital Gui de Chauliac, 80 avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1007/s00234-011-0946-zDOI Listing
March 2012

Benign paroxysmal vertigo of childhood: long-term outcome.

Cephalalgia 2011 Mar 17;31(4):439-43. Epub 2010 Sep 17.

Department of Neurology, Gui de Chauliac University Hospital, France.

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https://www.mm3admin.co.za/documents/docmanager/6e64f7e1-715
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http://cep.sagepub.com/cgi/doi/10.1177/0333102410382797
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http://dx.doi.org/10.1177/0333102410382797DOI Listing
March 2011

Developmental and benign movement disorders in childhood.

Mov Disord 2010 Jul;25(10):1317-34

Centre d'Investigation Clinique, INSERM, AP-HP, Paris, France.

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http://doi.wiley.com/10.1002/mds.22944
Publisher Site
http://dx.doi.org/10.1002/mds.22944DOI Listing
July 2010

Monoamine metabolism study in severe, early-onset epilepsy in childhood.

Epileptic Disord 2008 Jun;10(2):130-5

Child Neurology Department, Université de Montpellier, France.

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http://dx.doi.org/10.1684/epd.2008.0181DOI Listing
June 2008

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

Eur J Paediatr Neurol 2008 May 24;12(3):210-23. Epub 2007 Sep 24.

Service de Neuropédiatrie, Centre hospitalier universitaire de Montpellier, France.

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http://dx.doi.org/10.1016/j.ejpn.2007.07.014DOI Listing
May 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Partial epilepsy and 47,XXX karyotype: report of four cases.

Pediatr Neurol 2006 Jul;35(1):69-74

Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.01.003DOI Listing
July 2006

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.

J Child Neurol 2004 Mar;19(3):212-3

Service de Neuropédiatrie, Hôpital Saint-Eloi, Montpellier, France.

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March 2004

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Brain Dev 2003 Sep;25(6):442-5

Service de Neuropédiatrie, Hôpital Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/s0387-7604(03)00054-8DOI Listing
September 2003