Serge Lumbroso

Serge Lumbroso

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Serge Lumbroso

Serge Lumbroso

Publications by authors named "Serge Lumbroso"

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Theme 4 In vivo experimental models.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov;20(sup1):160-187

Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes et Université de Montpellier, Nimes, France.

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http://dx.doi.org/10.1080/21678421.2019.1646992DOI Listing
November 2019

Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

Int J Mol Sci 2019 Aug 8;20(16). Epub 2019 Aug 8.

Motoneuron Disease: Pathophysiology and Therapy, The Neuroscience Institute of Montpellier, University of Montpellier, Montpellier, Laboratoire de Biochimie et Biologie Moléculaire, Nimes University Hospital, 30029 Nîmes, France.

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https://www.mdpi.com/1422-0067/20/16/3858
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http://dx.doi.org/10.3390/ijms20163858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6720493PMC
August 2019

Liver X Receptor Genes Variants Modulate ALS Phenotype.

Mol Neurobiol 2018 03 27;55(3):1959-1965. Epub 2017 Feb 27.

INSERM UMR1051, Institut des Neurosciences de Montpellier, Hôpital Saint Eloi, Montpellier, France.

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http://dx.doi.org/10.1007/s12035-017-0453-2DOI Listing
March 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Association of NR1I2, CYP3A5 and ABCB1 genetic polymorphisms with variability of temsirolimus pharmacokinetics and toxicity in patients with metastatic bladder cancer.

Cancer Chemother Pharmacol 2017 Sep 4;80(3):653-659. Epub 2017 Jul 4.

IRCM, Institut de Recherche en Cancérologie de Montpellier, INSERM U1194, 34298, Montpellier, France.

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http://dx.doi.org/10.1007/s00280-017-3379-5DOI Listing
September 2017

Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.

Amyotroph Lateral Scler Frontotemporal Degener 2017 05 28;18(3-4):296-297. Epub 2016 Nov 28.

a Department of Neurology , CHU Montpellier, Hopital Guy de Chauliac , 80 avenue Augustin Fliche , 34295 Montpellier Cedex 5 , France and.

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http://dx.doi.org/10.1080/21678421.2016.1255756DOI Listing
May 2017

Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.

Neurology 2016 11;87(22):e262-e263

From the Department of Neurology (X.A., C.C.-D., P.L.), CHU Montpellier; Department of Biochemistry (K.M, S.L.), CHU Nimes; and Department of Neurology (E.M, E.B), CHU Besançon, France.

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http://dx.doi.org/10.1212/WNL.0000000000003370DOI Listing
November 2016

Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Cell Mol Life Sci 2016 10 10;73(20):3801-8. Epub 2016 Aug 10.

Department of Biochemistry and Molecular Biology, Nîmes University Hospital, Nîmes, France.

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http://dx.doi.org/10.1007/s00018-016-2330-yDOI Listing
October 2016

Polymorphisms in SLCO1B3 and NR1I2 as genetic determinants of hematotoxicity of carboplatin and paclitaxel combination.

Pharmacogenomics 2015 12;16(13):1439-50. Epub 2015 Aug 12.

Laboratoire de biochimie, Centre Hospitalier Universitaire (CHU) of Nîmes, Hôpital Carémeau, Nîmes, France.

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http://dx.doi.org/10.2217/pgs.15.84DOI Listing
June 2016

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

R521C mutation in the FUS/TLS gene presenting as juvenile onset flail leg syndrome.

Muscle Nerve 2013 Dec 25;48(6):993-4. Epub 2013 Oct 25.

Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.

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http://dx.doi.org/10.1002/mus.23956DOI Listing
December 2013

Emerging roles for LXRs and LRH-1 in female reproduction.

Mol Cell Endocrinol 2013 Apr 28;368(1-2):47-58. Epub 2012 Jun 28.

Laboratoire de Biochimie, Centre Hospitalier Universitaire de Nîmes, Hôpital Carémeau, Place du Pr. Robert Debré, F-30029 Nimes, France.

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http://dx.doi.org/10.1016/j.mce.2012.06.009DOI Listing
April 2013

Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

J Clin Endocrinol Metab 2011 Jul 13;96(7):E1197-205. Epub 2011 Apr 13.

Department of Pediatrics, Division of Endocrinology, University Medical Center Groningen, Beatrix Children's Hospital, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-3031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135199PMC
July 2011

Gene expression profiling in head and neck squamous cell carcinoma: Clinical perspectives.

Head Neck 2010 Dec;32(12):1712-9

Service d'ORL et Chirurgie maxillo-faciale, Centre Hospitalier Universitaire de Nîmes, Place du Pr. Robert Debre, 30029 Nîmes Cedex 9, France.

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http://dx.doi.org/10.1002/hed.21491DOI Listing
December 2010

Hepatic expression of thyroid hormone-responsive spot 14 protein is regulated by constitutive androstane receptor (NR1I3).

Endocrinology 2010 Apr 25;151(4):1653-61. Epub 2010 Feb 25.

Institut National de la Santé et de la Recherche Médicale, Unité 632, 1919 Route de Mende, F-34293 Montpellier, France.

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https://academic.oup.com/endo/article-lookup/doi/10.1210/en.
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http://dx.doi.org/10.1210/en.2009-1435DOI Listing
April 2010

Pregnane X Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation.

Mol Cancer 2010 Mar 2;9:46. Epub 2010 Mar 2.

Institut de Génomique Fonctionnelle, Centre National de la Recherche Scientifique (CNRS) UMR5203, Institut National de la Santé et de la Recherche Médicale (INSERM) U661, Université Montpellier 1 et 2, Montpellier F-34094, France.

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http://molecular-cancer.biomedcentral.com/articles/10.1186/1
Publisher Site
http://dx.doi.org/10.1186/1476-4598-9-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838814PMC
March 2010

Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period.

Horm Res 2009 19;72(5):315-9. Epub 2009 Oct 19.

Unité d'Endocrinologie Pédiatrique, Hôpital Arnaud de Villeneuve, Villeneuve FR-34295, France.

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http://dx.doi.org/10.1159/000245934DOI Listing
December 2009

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.

Fertil Steril 2007 Nov 10;88(5):1437.e21-5. Epub 2007 May 10.

Service d'Hormonologie, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.fertnstert.2007.01.048DOI Listing
November 2007

Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1.

J Mol Endocrinol 2007 May;38(5):547-54

Service d'Hormonologie and Institut National de la Santé et de la Recherche Médicale U540, CHU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1677/JME-06-0020DOI Listing
May 2007

Mild surfection of neural cells, especially motoneurons, in primary culture and cell lines.

Exp Neurol 2007 Mar 22;204(1):118-30. Epub 2006 Nov 22.

Unité 583 de l'INSERM, Institut des Neurosciences de Montpellier Hôpital Saint-Eloi, 80, rue Augustin-Fliche FR-34091 Montpellier, Cedex 05, France.

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http://dx.doi.org/10.1016/j.expneurol.2006.09.027DOI Listing
March 2007

Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy.

Maturitas 2006 Nov 8;55(4):325-33. Epub 2006 Jun 8.

Department of Internal Medicine and Geriatrics, University Hospital, Montpellier, France.

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http://dx.doi.org/10.1016/j.maturitas.2006.04.025DOI Listing
November 2006

Activating mutations of Gsalpha in kidney cancer.

J Urol 2006 Sep;176(3):891-5

INSERM U540, Endocrinologie Moléculaire et Cellulaire des Cancers and Service d'Hormonologie du Développement et de la Reproduction, Hôpital Lapeyronie, CHU Montpellier, 34295 Montpellier, France.

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http://dx.doi.org/10.1016/j.juro.2006.04.023DOI Listing
September 2006

5 alpha steroid reductase deficiency in Turkey.

Pediatr Endocrinol Rev 2006 Aug;3 Suppl 3:462-9

Ankara University Faculty of Medicine, Division of Pediatric Endocrinology and Pediatric Molecular Genetics, Ankara, Turkey.

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August 2006

Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?

J Clin Endocrinol Metab 2006 May 28;91(5):1842-7. Epub 2006 Feb 28.

Unité d'Endocrinologie-Gynécologie Pédiatriques, Service de Pédiatrie 1, Hôpital Arnaud-de-Villeneuve, Hôpital Lapeyronie, Centre Hospitalier Universitaire Montpellier, 34295 Montpellier, France.

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http://dx.doi.org/10.1210/jc.2005-2710DOI Listing
May 2006

Glutamic acid 709 substitutions highlight the importance of the interaction between androgen receptor helices H3 and H12 for androgen and antiandrogen actions.

Mol Endocrinol 2006 Apr 22;20(4):724-34. Epub 2005 Dec 22.

Institut National de la Santé et de la Recherche Médicale, Unité 540, Centre National de la Recherche Scientifique, Université Montpellier 1, F-34090 Montpellier, France.

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http://dx.doi.org/10.1210/me.2005-0419DOI Listing
April 2006

Receptors to steroid hormones and aromatase are expressed by cultured motoneurons but not by glial cells derived from rat embryo spinal cord.

Neuroendocrinology 2004 25;80(5):284-97. Epub 2005 Jan 25.

Unité 583, INSERM, Instituts des Neurosciences de Montpellier, Hôpital Saint-Eloi, 80, rue Augustin-Fliche, FR-34091 Montpellier, France.

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http://dx.doi.org/10.1159/000083611DOI Listing
April 2005

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.

J Clin Endocrinol Metab 2005 Jan 2;90(1):106-11. Epub 2004 Nov 2.

Service de Biochimie, Centre Hospitalier Universitaire Montpellier and Institut National de la Santé et de la Recherche Médicale, France.

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http://dx.doi.org/10.1210/jc.2004-0462DOI Listing
January 2005

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

J Clin Endocrinol Metab 2004 May;89(5):2107-13

Service d'Hormonologie, Hôpital Lapeyronie, Centre Hospitalier Universitaire (CHU) de Montpellier and Institut National de la Santé et de la Recherche Médicale, Montpellier, France 34295.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2003-031225DOI Listing
May 2004

Ambiguous genitalia in the newborn: diagnosis, etiology and sex assignment.

Endocr Dev 2004 ;7:23-38

Unité d'Endocrinologie et de Gynécologie Pédiatriques, Service de Pédiatrie I, Hôpital Arnaud de Villeneuve, Service d'Hormonologie et Inserm U.439, CHU Montpellier, France.

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http://dx.doi.org/10.1159/000077075DOI Listing
April 2004

Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.

J Clin Endocrinol Metab 2004 Mar;89(3):1076-8

Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2003-031245DOI Listing
March 2004

Sex steroids and age-related macular degeneration in older French women: the POLA study.

Ann Epidemiol 2004 Mar;14(3):202-8

Institut National de la Santé et de la Recherche Médicale , Montpellier, France.

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http://linkinghub.elsevier.com/retrieve/pii/S104727970300130
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http://dx.doi.org/10.1016/S1047-2797(03)00130-3DOI Listing
March 2004

A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.

Horm Res 2003 ;59(6):281-4

The National Research Center, Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.1159/000070626DOI Listing
January 2004

Relationships between hormonal status and cataract in french postmenopausal women: the POLA study.

Ann Epidemiol 2003 Oct;13(9):638-44

Institut National de la Santé et de la Recherche Médicale (INSERM), Unité 500, Montpellier, France.

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http://linkinghub.elsevier.com/retrieve/pii/S104727970300058
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http://dx.doi.org/10.1016/S1047-2797(03)00058-9DOI Listing
October 2003

McCune-Albright syndrome: molecular genetics.

J Pediatr Endocrinol Metab 2002 ;15 Suppl 3:875-82

Hormonologie du Développement et de la Reproduction, Hĵpital Lapeyronie et INSERM U439, Pathologie Moléculaire des Récepteurs Nucléaires, Montpellier, France.

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March 2003

A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.

J Pediatr Endocrinol Metab 2003 Feb;16(2):219-24

The National Research Center, Cairo, Egypt.

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http://dx.doi.org/10.1515/jpem.2003.16.2.219DOI Listing
February 2003

Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743.

J Clin Endocrinol Metab 2002 Dec;87(12):5793-800

Institut National de la Santé et de la Recherche Médicale (INSERM) U-439, Pathologie Moléculaire des Récepteurs Nucléaires et Service d'Hormonologie, Centre Hospitalier Universitaire (CHU) de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1210/jc.2002-020491DOI Listing
December 2002

Potential action of IGF-1 and EGF on androgen receptor nuclear transfer and transactivation in normal and cancer human prostate cell lines.

Mol Cell Endocrinol 2002 Dec;198(1-2):105-14

INSERM Unité 439, Pathologie Moléculaire des Récepteurs Nucléaires, 70 rue de Navacelles, Montpellier 34090, France.

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http://dx.doi.org/10.1016/s0303-7207(02)00374-xDOI Listing
December 2002

Ambiguous genitalia in the newborn.

Semin Reprod Med 2002 Aug;20(3):181-8

Pediatric Endocrine Unit, Department of Pediatrics, Hôpital A. de Villeneuve, CHU Montpellier, 34295 Montpellier Cedex, France.

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http://dx.doi.org/10.1055/s-2002-35382DOI Listing
August 2002

Disorders of androgen action.

Semin Reprod Med 2002 Aug;20(3):217-28

Pediatric Endocrine Unit, Department of Pediatrics, Hôpital A. de Villeneuve, CHU Montpellier, 34295 Montpellier Cedex, France.

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http://dx.doi.org/10.1055/s-2002-35386DOI Listing
August 2002