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Diana Rodriguez

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Diana Rodriguez
Leukodystrophies with astrocytic dysfunction.
Patricia Combes; Eléonore Eymard-Pierre; Vincent Planche; Diana Rodriguez; Catherine Sarret; Odile Boespflug-Tanguy; Catherine Vaurs-Barriere
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).
Aurélia Huyghe; Diana Rodriguez; Raphael Schiffmann; Marina Gaillard; Alain Hénaut; Laetitia Horzinski; Enrico Bertini; Odile Boespflug-Tanguy; Yann Dantal; Anne Fogli
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

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All Publications

2013: Diana Rodriguez
Leukodystrophies with astrocytic dysfunction.
Handbook of clinical neurology 2013;113():1619-28.
2012: Patricia Combes; Eléonore Eymard-Pierre; Vincent Planche; Diana Rodriguez; Catherine Sarret; Odile Boespflug-Tanguy; Catherine Vaurs-Barriere
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).
Annals of human genetics 2012;76(3):261-7.
2012: Aurélia Huyghe; Diana Rodriguez; Raphael Schiffmann; Marina Gaillard; Alain Hénaut; Laetitia Horzinski; Enrico Bertini; Odile Boespflug-Tanguy; Yann Dantal; Anne Fogli
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
PloS one 2012;7(6):e38264.
2012: Lydie Burglen; Sandra Chantot-Bastaraud; Aurélie Coussement; Vincent des Portes; Isabelle Desguerre; Catherine Garel; Cyril Goizet; Christine Ioos; Sylvie Joriot; Didier Lacombe; Leila Lazaro; Mathieu Milh; Florence Petit; Jean-Pierre Siffroi; Renaud Touraine; Ginevra Zanni; Thierry Billette de Villemeur; Alexandra Afenjar; Sabina Barresi; Enrico Bertini; Diana Rodriguez
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Orphanet journal of rare diseases 2012;7():18.
2011: C Carra-Dalliere; Christian Confavreux; J de Seze; C Denier; Anne Fogli; Cyril Goizet; Anne-Marie Guennoc; L Horzinski; D Laplaud; François Mauguiere; M Obadia; L Peter; Diana Rodriguez; E Sartori; F Sedel; Sandra Vukusic; Jean-Christophe Antoine; X Ayrignac; F Blanc; Odile Boespflug-Tanguy; Françoise Bouhour; Pierre Labauge
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Revue neurologique 2011;167(11):802-11.
2009: Diane Doummar; Fabienne Clot; Marie Vidailhet; Alexandra Afenjar; Alexandra Durr; Alexis Brice; Cyril Mignot; Agnès Guet; Thierry Billette de Villemeur; Diana Rodriguez
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):943-5.
2009: Cyril Mignot; Isabelle Desguerre; Lydie Burglen; Lucie Hertz-Pannier; Florence Renaldo; Jean-François Gadisseux; Serge Gallet; Danielle Pham-Dinh; Odile Boespflug-Tanguy; Diana Rodriguez
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.
Brain & development 2009;31(3):244-7.
2009: Faten Tinsa; Olfa Farid; Wiem Douira; Diana Rodriguez; Lydie Burglen; Khadija Boussetta; Souad Bousnina
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.
Journal of child neurology 2009;24(1):87-9.
2007: Alexandra Afenjar; Marie-Laure Moutard; Diane Doummar; Agnés Guët; Daniel Rabier; Anne-Isabelle Vermersch; Cyril Mignot; Lydie Burglen; Delphine Heron; Elizabeth Thioulouse; Thierry Billette de Villemeur; Dominique Campion; Diana Rodriguez
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Brain & development 2007;29(9):547-52.
2007: Pierre Labauge; Anne Fogli; F Niel; Diana Rodriguez; Odile Boespflug-Tanguy
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Revue neurologique 2007;163(8-9):793-9.
2007: Cyril Mignot; Cécile Delarasse; Séverine Escaich; Bruno Della Gaspera; Eric Noé; Emma Colucci-Guyon; Charles Babinet; Milos Pekny; Patrick Vicart; Odile Boespflug-Tanguy; André Dautigny; Diana Rodriguez; Danielle Pham-Dinh
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.
Experimental cell research 2007;313(13):2766-79.
2007: S Passemard; Antoinette Gelot; Anne Fogli; S N'guyen; C Barnerias; F Niel; Diane Doummar; A S Arbues; Cyril Mignot; Thierry Billette de Villemeur; Gérard Ponsot; Odile Boespflug-Tanguy; Diana Rodriguez
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Neurology 2007;69(4):400-2.
2007: Alexandra Afenjar; Diana Rodriguez; Flore Rozenberg; N Dorison; Agnés Guët; Cyril Mignot; Diane Doummar; Thierry Billette de Villemeur; Gérard Ponsot
[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(5):472-5.
2006: Pierre Labauge; Antoinette Gelot; Anne Fogli; Odile Boespflug-Tanguy; Diana Rodriguez
Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome.
Annals of neurology 2006;60(4):485; author reply 485-6.
2006: Cécile Delarasse; Bruno Della Gaspera; Chuan Wei Lu; François Lachapelle; Antoinette Gelot; Diana Rodriguez; André Dautigny; Claude P Genain; Danielle Pham-Dinh
Complex alternative splicing of the myelin oligodendrocyte glycoprotein gene is unique to human and non-human primates.
Journal of neurochemistry 2006;98(6):1707-17.
2006: Marie-Laure Moutard; Antoinette Gélot; Diana Rodriguez; Agnés Guët; Cyril Mignot; Gérard Ponsot; Thierry Billette de Villemeur
[Fetal neurology: conditions of diagnostic uncertainty].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(6):825-7.
2006: Patricia Combes; Marie-Noëlle Bonnet-Dupeyron; Fernande Gauthier-Barichard; Raphael Schiffmann; Enrico Bertini; Diana Rodriguez; John A L Armour; Odile Boespflug-Tanguy; Catherine Vaurs-Barrière
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
Neurogenetics 2006;7(1):31-7.
2006: C Vaurs-Barriere; Marie-Noëlle Bonnet-Dupeyron; Patricia Combes; Fernande Gauthier-Barichard; Xavier T Reveles; Raphael Schiffmann; Enrico Bertini; Diana Rodriguez; Philippe Vago; John A L Armour; Pascale Saugier-Veber; Thierry Frebourg; Robin J Leach; Odile Boespflug-Tanguy
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
Annals of human genetics 2006;70(Pt 1):66-77.
2005: Pierre Labauge; Anne Fogli; Giovanni Castelnovo; Alice Le Bayon; Laetitia Horzinski; François Nicoli; Patrick Cozzone; Michel Pagès; Caroline Briere; Christiane Marty-Double; Olivier Delhaume; Antoinette Gelot; Odile Boespflug-Tanguy; Diana Rodriguez
Dominant form of vanishing white matter-like leukoencephalopathy.
Annals of neurology 2005;58(4):634-9.
2004: Diane Doummar; B Roussat; Béatrice Pelosse; H Ducou Le Pointe; Marie-Thérèse Iba-Zizen; Anne Roubergue; Diana Rodriguez; Thierry Billette de Villemeur
[Management of acute visual loss in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(11):1384-8.
2004: Anne Fogli; Raphael Schiffmann; Lynne Hugendubler; Patricia Combes; Enrico Bertini; Diana Rodriguez; Scot R Kimball; Odile Boespflug-Tanguy
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
European journal of human genetics : EJHG 2004;12(7):561-6.
2004: Diana Rodriguez
[Diagnosis and global management of children with neurofibromatosis 1].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(6):545-7.
2004: Anne Fogli; Raphael Schiffmann; Enrico Bertini; S Ughetto; Patricia Combes; Eleonore Eymard-Pierre; Christine R Kaneski; M Pineda; M Troncoso; Graziella Uziel; R Surtees; D Pugin; M-P Chaunu; Diana Rodriguez; Odile Boespflug-Tanguy
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Neurology 2004;62(9):1509-17.
2004: Cyril Mignot; Odile Boespflug-Tanguy; Antoinette Gelot; André Dautigny; Danielle Pham-Dinh; Diana Rodriguez
Alexander disease: putative mechanisms of an astrocytic encephalopathy.
Cellular and molecular life sciences : CMLS 2004;61(3):369-85.
2003: C Patrono; G Di Giacinto; Eleonore Eymard-Pierre; Filippo M Santorelli; Diana Rodriguez; N De Stefano; A Federico; R Gatti; V Benigno; A Megarbané; B Tabarki; Odile Boespflug-Tanguy; Enrico Bertini
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Neurology 2003;61(4):534-7.
2003: Anne Fogli; Diana Rodriguez; Eleonore Eymard-Pierre; Françoise Bouhour; Pierre Labauge; Brandon F Meaney; Susan Zeesman; Christine R Kaneski; Raphael Schiffmann; Odile Boespflug-Tanguy
Ovarian failure related to eukaryotic initiation factor 2B mutations.
American journal of human genetics 2003;72(6):1544-50.
2003: Anne Fogli; Diana Rodriguez; Eleonore Eymard-Pierre; Odile Boespflug-Tanguy
[eIF2B and Cree Indian leukodystrophies].
Médecine sciences : M/S 2003;19(3):283-4.
2003: Jean-Sébastien Guillamo; Alain Créange; Chantal Kalifa; jacques grill; Diana Rodriguez; François Doz; Sébastien Barbarot; Michel ZERAH; Marc Sanson; Sylvie Bastuji-Garin; Pierre Wolkenstein
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients.
Brain : a journal of neurology 2003;126(Pt 1):152-60.
2002: Yann Mikaeloff; Yves Chaix; jacques grill; Catherine Adamsbaum; Joseph Bursztyn; H Rubie; Annick Sevely; Isabelle Jambaqué; Chantal Kalifa; Gérard Ponsot; J C Carrière; Diana Rodriguez
[Optic pathway gliomas in neurofibromatosis type I. Longitudinal study of 30 cases in two multidisciplinary practices].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9(8):797-804.
2002: Stéphane Pinson; Alain Créange; Sébastien Barbarot; Jean-François Stalder; Yves Chaix; Diana Rodriguez; Marc Sanson; Alain BERNHEIM; M D'incan; François Doz; C l Stoll; Patrick Combemale; Chantal Kalifa; Jacques Zeller; D Teillac-Hamel; S Lyonnet; Michel ZERAH; J Ph Lacour; B Guillot; Pierre Wolkenstein
[Recommendations for the treatment of neurofibromatosis type 1].
Journal français d'ophtalmologie 2002;25(4):423-33.
2002: Dominique Bonneau; Annick Toutain; Annie Laquerrière; Stéphane Marret; Pascale Saugier-Veber; Marie-Anne Barthez; Sophie Radi; Valérie Biran-Mucignat; Diana Rodriguez; Antoinette Gélot
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
Annals of neurology 2002;51(3):340-9.
2002: Stéphane Pinson; Alain Créange; Sébastien Barbarot; Jean-François Stalder; Yves Chaix; Diana Rodriguez; Marc Sanson; A Bernheim; M D'incan; François Doz; C l Stoll; Patrick Combemale; Chantal Kalifa; Jacques Zeller; D Teillac-Hamel; S Lyonnet; Michel ZERAH; J Ph Lacour; B Guillot; Pierre Wolkenstein
[Neurofibromatosis 1: recommendations for management].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9(1):49-60.
2001: Diana Rodriguez; F Gauthier; E Bertini; M Bugiani; M Brenner; S N'guyen; Cyril Goizet; Antoinette Gelot; R Surtees; Jean-Michel Pedespan; X Hernandorena; M Troncoso; Graziella Uziel; A Messing; Gérard Ponsot; Danielle Pham-Dinh; André Dautigny; Odile Boespflug-Tanguy
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
American journal of human genetics 2001;69(5):1134-40.
2001: Marie-Laure Moutard; Fanny Lewin; Catherine Adamsbaum; Antoinette Gélot; Diana Rodriguez; Gérard Ponsot
[Role of neuropediatrics in prenatal diagnosis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():442s-444s.
2001: Stéphane Pinson; Alain Créange; Sébastien Barbarot; Jean-François Stalder; Yves Chaix; Diana Rodriguez; Marc Sanson; Alain BERNHEIM; M D'incan; François Doz; C l Stoll; Patrick Combemale; Chantal Kalifa; Jacques Zeller; D Teillac-Hamel; S Lyonnet; Michel ZERAH; J Ph Lacour; B Guillot; Pierre Wolkenstein
[Neurofibromatosis 1: recommendations for management].
Annales de dermatologie et de vénéréologie 2001;128(4):567-75.
1999: Diana Rodriguez; Antoinette Gelot; Bruno Della Gaspera; O Robain; Gérard Ponsot; L L Sarliève; S Ghandour; A Pompidou; André Dautigny; Patrick Aubourg; Danielle Pham-Dinh
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.
Acta neuropathologica 1999;97(5):469-80.
1998: Antoinette Gelot; C A Maurage; Diana Rodriguez; D Perrier-Pallisson; P Larmande; Marie-Magdeleine Ruchoux
In vivo diagnosis of Kufs' disease by extracerebral biopsies.
Acta neuropathologica 1998;96(1):102-8.
1997: Diana Rodriguez; Bruno Della Gaspera; Bernard Zalc; JEAN-JACQUES HAUW; B Fontaine; G Edan; M Clanet; André Dautigny; Danielle Pham-Dinh
Identification of a Val 145 Ile substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis. The Réseau de Recherche Clinique INSERM sur la Susceptibilité Génétique à la Sclérose en Plaques.
Multiple sclerosis (Houndmills, Basingstoke, England) 1997;3(6):377-81.