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Jean-Louis Mandel

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Olga S Koutsopoulos; Christine Kretz; Emilia K Bijlsma; Johann Böhm; Emilie Heckel; Catherine Koch; Muriel Koch; Jean-Louis Mandel; Syed Q Mehdi; Halina MOJZISOVA; Aurelien Roux; Daphne Stemkens; Simone A J ter Horst; Christelle Thibault; Anne Toussaint; Julien Vermot; Claudia M Weller; Jocelyn Laporte
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
Claire Redin; Corinne Stoetzel; Marianne Till; Alain Verloes; Marie-Claire Vincent; Ines Ouertani; Florence Petit; Habiba Bouhamed Chaabouni; Pietro Chiurazzi; Hélène Dollfus; Véronique Geoffroy; Bernard Jost; Didier Lacombe; Stéphanie Le Gras; Jean-Louis Mandel; Oussema Mhamdi; Jean Muller
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Nasim Vasli; Serge Vicaire; Rafaelle Bernard; Valérie Biancalana; Johann Böhm; Jamel Chelly; Andoni Echaniz-Laguna; Bernard Jost; Vincent Laugel; Stéphanie Le Gras; Nicolas Levy; Jean-Louis Mandel; Jean Muller; Cécile Pizot; Frédéric Plewniak; Christine Tranchant; Jocelyn Laporte
Next generation sequencing for molecular diagnosis of neuromuscular diseases.

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All Publications

2013: Olga S Koutsopoulos; Christine Kretz; Emilia K Bijlsma; Johann Böhm; Emilie Heckel; Catherine Koch; Muriel Koch; Jean-Louis Mandel; Syed Q Mehdi; Halina MOJZISOVA; Aurelien Roux; Daphne Stemkens; Simone A J ter Horst; Christelle Thibault; Anne Toussaint; Julien Vermot; Claudia M Weller; Jocelyn Laporte
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
European journal of human genetics : EJHG 2013;21(6):637-42.
2012: Claire Redin; Corinne Stoetzel; Marianne Till; Alain Verloes; Marie-Claire Vincent; Ines Ouertani; Florence Petit; Habiba Bouhamed Chaabouni; Pietro Chiurazzi; Hélène Dollfus; Véronique Geoffroy; Bernard Jost; Didier Lacombe; Stéphanie Le Gras; Jean-Louis Mandel; Oussema Mhamdi; Jean Muller
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Journal of medical genetics 2012;49(8):502-12.
2012: Nasim Vasli; Serge Vicaire; Rafaelle Bernard; Valérie Biancalana; Johann Böhm; Jamel Chelly; Andoni Echaniz-Laguna; Bernard Jost; Vincent Laugel; Stéphanie Le Gras; Nicolas Levy; Jean-Louis Mandel; Jean Muller; Cécile Pizot; Frédéric Plewniak; Christine Tranchant; Jocelyn Laporte
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Acta neuropathologica 2012;124(2):273-83.
2012: K Aliferis; S Duchatelet; G Gyapay; S Hellé; Jean-Louis Mandel; Corinne Stoetzel; Hélène Dollfus
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
Ophthalmic genetics 2012;33(1):18-22.
2011: Murugan Subramanian; Ricardos Tabet; Eric Flatter; Jean-Louis Mandel; Florence Rage; Hervé Moine
G-quadruplex RNA structure as a signal for neurite mRNA targeting.
EMBO reports 2011;12(7):697-704.
2011: Belinda Cowling; Anne Toussaint; Leonela Amoasii; Pascale Koebel; Arnaud Ferry; Laurianne Davignon; Ichizo Nishino; Jean-Louis Mandel; Jocelyn Laporte
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
The American journal of pathology 2011;178(5):2224-35.
2011: Elise Schaefer; Myriam Durand; Corinne Stoetzel; Bérénice Doray; Brigitte Viville; Sophie Hellé; Jean-Marc Danse; Christian Hamel; Pierre Bitoun; Alice Goldenberg; Sonia Finck; Laurence Faivre; Sabine Sigaudy; Muriel Holder; Marie-Claire Vincent; Vincent Marion; Dominique Bonneau; Alain Verloes; Israël Nisand; Jean-Louis Mandel; Hélène Dollfus
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
European journal of medical genetics 2011;54(2):157-60.
2011: Anne Toussaint; Belinda Cowling; Karim Hnia; Michel Mohr; Anders Oldfors; Yannick Schwab; Uluç Yis; Thierry Maisonobe; Tanya Stojkovic; Carina Wallgren-Pettersson; Vincent Laugel; Andoni Echaniz-Laguna; Jean-Louis Mandel; Ichizo Nishino; Jocelyn Laporte
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Acta neuropathologica 2011;121(2):253-66.
2011: Mireille Cossée; Laurence Faivre; Christophe Philippe; Heifa Hichri; Anne De Saint-Martin; Vincent Laugel; Nadia Bahi-Buisson; Jean-François Lemaitre; Bruno Leheup; Bruno Delobel; Bénédicte Demeer; Karine Poirier; Valérie Biancalana; Jean-Michel Pinoit; Sophie Julia; Jamel Chelly; Didier Devys; Jean-Louis Mandel
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
American journal of medical genetics. Part A 2011;155A(1):98-105.
2010: Jean Muller; Corinne Stoetzel; M C Vincent; Carmen C Leitch; Virginie Laurier; Jean-Marc Danse; S Hellé; V Marion; V Bennouna-Greene; S Vicaire; A Megarbane; Josseline Kaplan; V Drouin-Garraud; M Hamdani; Sabine Sigaudy; C Francannet; J Roume; Pierre Bitoun; A Goldenberg; N Philip; S Odent; J Green; Mireille Cossée; Erica E Davis; Nicholas Katsanis; Dominique Bonneau; Alain Verloes; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Human genetics 2010;127(5):583-93.
2010: Anne Friedrich; Nicolas Garnier; Nicolas Gagnière; Hoan Nguyen; Laurent-Philippe Albou; Valérie Biancalana; Emmanuel Bettler; Gilbert Deléage; Odile Lecompte; Jean Muller; Dino Moras; Jean-Louis Mandel; Thierry Toursel; Luc Moulinier; Olivier Poch
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
Human mutation 2010;31(2):127-35.
2009: Mireille Cossée; Clotilde Lagier-Tourenne; Claire Seguela; Michel Mohr; France Leturcq; Hulya Gundesli; Jamel Chelly; Christine Tranchant; Michel Koenig; Jean-Louis Mandel
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.
Neuromuscular disorders : NMD 2009;19(4):255-60.
2009: Vincent Marion; Corinne Stoetzel; Dominique Schlicht; Nadia Messaddeq; Michael Koch; Elisabeth Flori; Jean-Marc Danse; Jean-Louis Mandel; Hélène Dollfus
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(6):1820-5.
2009: Marie-Cécile Didiot; Murugan Subramanian; Eric Flatter; Jean-Louis Mandel; Hervé Moine
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.
Molecular biology of the cell 2009;20(1):428-37.
2008: Anna Buj-Bello; Françoise Fougerousse; Yannick Schwab; Nadia Messaddeq; Danièle Spehner; Christopher R Pierson; Muriel Durand; Christine Kretz; Olivier Danos; Anne-Marie Douar; Alan H Beggs; Patrick Schultz; Marie Montus; Patrice DENEFLE; Jean-Louis Mandel
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Human molecular genetics 2008;17(14):2132-43.
2008: Vincent Laugel; Mireille Cossée; Jacqueline Matis; Anne De Saint-Martin; Andoni Echaniz-Laguna; Jean-Louis Mandel; Dominique Astruc; Michel Fischbach; Jean Messer
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.
European journal of pediatrics 2008;167(5):517-23.
2008: Clotilde Lagier-Tourenne; Meriem Tazir; Luis Lopez; Catarina M Quinzii; Mirna Assoum; Nathalie Drouot; Cleverson Busso; Samira Makri; Lamia Ali-Pacha; Traki Benhassine; Mathieu Anheim; David R Lynch; Christelle Thibault; Frédéric Plewniak; Laurent Bianchetti; Christine Tranchant; Olivier Poch; Salvatore DiMauro; Jean-Louis Mandel; Mario H Barros; Michio Hirano; Michel Koenig
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
American journal of human genetics 2008;82(3):661-72.
2007: Andoni Echaniz-Laguna; Anne-Sophie Nicot; Sophie Carré; Jérôme Franques; Christine Tranchant; Nicolas Dondaine; Valérie Biancalana; Jean-Louis Mandel; Jocelyn Laporte
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Neuromuscular disorders : NMD 2007;17(11-12):955-9.
2007: Anne-Sophie Nicot; Anne Toussaint; Valérie Tosch; Christine Kretz; Carina Wallgren-Pettersson; Erik Iwarsson; Helen Kingston; Jean-Marie Garnier; Valérie Biancalana; Anders Oldfors; Jean-Louis Mandel; Jocelyn Laporte
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nature genetics 2007;39(9):1134-9.
2007: Fabrice A C Klein; Annalisa Pastore; Laura Masino; Gabrielle Zeder-Lutz; Hélène Nierengarten; Mustapha Oulad-Abdelghani; Danièle Altschuh; Jean-Louis Mandel; Yvon Trottier
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient.
Journal of molecular biology 2007;371(1):235-44.
2007: Corinne Stoetzel; Jean Muller; Virginie Laurier; Erica E Davis; Norann Zaghloul; Serge Vicaire; Cecile Jacquelin; Frédéric Plewniak; Carmen C Leitch; Pierre Sarda; Christian Hamel; T J L de Ravel; Richard Alan Lewis; Evelyne Friederich; Christelle Thibault; Jean-Marc Danse; Alain Verloes; Dominique Bonneau; Nicholas Katsanis; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
American journal of human genetics 2007;80(1):1-11.
2006: Hélène Dollfus; Jean Muller; Corinne Stoetzel; Virginie Laurier; Dominique Bonneau; André Mégarbané; Olivier Poch; Jean-Louis Mandel
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Médecine sciences : M/S 2006;22(11):901-4.
2006: Valérie Tosch; Holger M Rohde; Hélène Tronchère; Edmar Zanoteli; Nancy Monroy; Christine Kretz; Nicolas Dondaine; Bernard Payrastre; Jean-Louis Mandel; Jocelyn Laporte
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Human molecular genetics 2006;15(21):3098-106.
2006: Virginie Laurier; Corinne Stoetzel; Jean Muller; Christelle Thibault; Sandra Corbani; Nadine Jalkh; Nabiha Salem; Eliane Chouery; Olivier Poch; Serge Licaire; Jean-Marc Danse; Patrizia Amati-Bonneau; Dominique Bonneau; André Mégarbané; Jean-Louis Mandel; Hélène Dollfus
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
European journal of human genetics : EJHG 2006;14(11):1195-203.
2006: Mireille Cossée; Bénédicte Demeer; Patricia Blanchet; Bernard Echenne; Deepika Singh; Olivier Hagens; Manuela Antin; Sonja Finck; Louis Vallee; Hélène Dollfus; Sridevi Hegde; Kelly Springell; B K Thelma; Geoffrey Woods; Vera Kalscheuer; Jean-Louis Mandel
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
European journal of human genetics : EJHG 2006;14(4):418-25.
2006: Agatha Schlüter; Stéphane Fourcade; Raymond Ripp; Jean-Louis Mandel; Olivier Poch; Aurora Pujol
The evolutionary origin of peroxisomes: an ER-peroxisome connection.
Molecular biology and evolution 2006;23(4):838-45.
2006: Gretta Abou-Sleymane; Frédéric Chalmel; Dominique Helmlinger; Aurélie Lardenois; Christelle Thibault; Chantal Weber; Karine Mérienne; Jean-Louis Mandel; Olivier Poch; Didier Devys; Yvon Trottier
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.
Human molecular genetics 2006;15(5):691-703.
2006: Corinne Stoetzel; Virginie Laurier; Laurence Faivre; André Mégarbané; Fabienne Perrin-Schmitt; Alain Verloes; Dominique Bonneau; Jean-Louis Mandel; Mireille Cossee; Hélène Dollfus
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Journal of human genetics 2006;51(1):81-4.
2005: Isidro Ferrer; Josef P Kapfhammer; Colette Hindelang; Stephan Kemp; Nathalie Troffer-Charlier; Vania Broccoli; Noëlle Callyzot; Petra A W Mooyer; Jacqueline Selhorst; Peter Vreken; Ronald J A Wanders; Jean-Louis Mandel; Aurora Pujol
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
Human molecular genetics 2005;14(23):3565-77.
2005: Valérie Biancalana; Mathias Toft; Isabelle Le Ber; François Tison; Elisabeth Scherrer; Stephen Thibodeau; Jean-Louis Mandel; Alexis Brice; Matthew J Farrer; Alexandra Dürr
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
Archives of neurology 2005;62(6):962-6.
2005: Haifa Hichri; Corinne Stoetzel; Virginie Laurier; Solenne Caron; Sabine Sigaudy; Pierre Sarda; Christian Hamel; Dominique Martin-Coignard; Morin Gilles; Bruno Leheup; Mureille Holder; Josseline Kaplan; Pierre Bitoun; Didier Lacombe; Alain Verloes; Dominique Bonneau; Fabienne Perrin-Schmitt; Christian Brandt; Anne-Françoise Besancon; Jean-Louis Mandel; Mireille Cossée; Hélène Dollfus
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
European journal of human genetics : EJHG 2005;13(5):607-16.
2005: Edmar Zanoteli; Jocelyn Laporte; José C C Rocha; Christine Kretz; Acary S B Oliveira; Jean-Louis Mandel; Ana Beatriz Alvarez Perez; Alberto A Gabbai; Anna Buj-Bello
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
American journal of medical genetics. Part A 2005;134(3):338-40.
2005: Marie Castets; Céline Schaeffer; Elias Bechara; Annette Schenck; Edouard W Khandjian; Sylvie Luche; Hervé Moine; Thierry Rabilloud; Jean-Louis Mandel; Barbara Bardoni
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.
Human molecular genetics 2005;14(6):835-44.
2005: Hélène Dollfus; Alain Verloes; Dominique Bonneau; Mireille Cossée; Fabienne Perrin-Schmitt; Christian Brandt; Jacques Flament; Jean-Louis Mandel
[Update on Bardet-Biedl syndrome].
Journal français d'ophtalmologie 2005;28(1):106-12.
2004: Dominique Helmlinger; Jacques Bonnet; Jean-Louis Mandel; Yvon Trottier; Didier Devys
Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.
The Journal of biological chemistry 2004;279(53):55969-77.
2004: Aurora Pujol; Isidro Ferrer; Carme Camps; Elisabeth Metzger; Colette Hindelang; Noëlle Callizot; Montse Ruiz; Teresa Pàmpols; Marisa Giròs; Jean-Louis Mandel
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
Human molecular genetics 2004;13(23):2997-3006.
2004: Annette Schenck; Abrar Qurashi; Pilar Carrera; Barbara Bardoni; Céline Diebold; Eyal D Schejter; Jean-Louis Mandel; Angela Giangrande
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity.
Developmental biology 2004;274(2):260-70.
2004: Valérie Biancalana; Cherif Beldjord; Agnès Taillandier; Sylvie Szpiro-Tapia; Véronica Cusin; Fabienne Gerson; Christophe Philippe; Jean-Louis Mandel
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
American journal of medical genetics. Part A 2004;129A(3):218-24.
2004: Jean-Louis Mandel; Jamel Chelly
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
European journal of human genetics : EJHG 2004;12(9):689-93.
2004: Dominique Helmlinger; Sara Hardy; Souphatta Sasorith; Fabrice A C Klein; Flavie Robert; Chantal Weber; laurent miguet; Noelle Potier; Alain Van Dorsselaer; Jean-Marie Wurtz; Jean-Louis Mandel; Làszlò Tora; Didier Devys
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.
Human molecular genetics 2004;13(12):1257-65.
2004: Jean-Louis Mandel; V Biancalana
Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2004;14 Suppl A():S158-65.
2004: Elisabeth Flori; Valérie Biancalana; Françoise Girard-Lemaire; Romain Favre; Jean Flori; Bérénice Doray; Jean-Louis Mandel
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
European journal of human genetics : EJHG 2004;12(3):181-6.
2004: Dominique Helmlinger; Gretta Abou-Sleymane; Gaël Yvert; Stéphane Rousseau; Chantal Weber; Yvon Trottier; Jean-Louis Mandel; Didier Devys
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(8):1881-7.
2004: Hélène Tronchère; Jocelyn Laporte; Caroline Pendaries; Claire Chaussade; Laurence Liaubet; Luciano Pirola; Jean-Louis Mandel; Bernard Payrastre
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
The Journal of biological chemistry 2004;279(8):7304-12.
2003: Hélène Tronchère; Anna Buj-Bello; Jean-Louis Mandel; Bernard Payrastre
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Cellular and molecular life sciences : CMLS 2003;60(10):2084-99.
2003: Barbara Bardoni; Rob Willemsen; Ivan Jeanne Weiler; Annette Schenck; Lies-Anne Severijnen; Colette Hindelang; Enzo Lalli; Jean-Louis Mandel
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes.
Experimental cell research 2003;289(1):95-107.
2003: Salvatore Adinolfi; Andres Ramos; Stephen Martin; Fabrizio Dal Piaz; Piero Pucci; Barbara Bardoni; Jean-Louis Mandel; Annalisa Pastore
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.
Biochemistry 2003;42(35):10437-44.
2003: Barbara Bardoni; Marie Castets; Marc-Etienne Huot; Annette Schenck; Salvatore Adinolfi; François Corbin; Annalisa Pastore; Edouard W Khandjian; Jean-Louis Mandel
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.
Human molecular genetics 2003;12(14):1689-98.
2003: Annette Schenck; Barbara Bardoni; Caillin Langmann; Nicholas Harden; Jean-Louis Mandel; Angela Giangrande
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.
Neuron 2003;38(6):887-98.
2003: Sarah L Nolin; W Ted Brown; Anne Glicksman; George E Houck; Alice D Gargano; Amy Sullivan; Valérie Biancalana; Karen Bröndum-Nielsen; Helle Hjalgrim; Elke Holinski-Feder; Frank Kooy; John Longshore; James Macpherson; Jean-Louis Mandel; Gert Matthijs; Francois Rousseau; Peter Steinbach; Marja-Leena Väisänen; Harriet von Koskull; Stephanie L Sherman
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
American journal of human genetics 2003;72(2):454-64.
2003: Valérie Biancalana; Olivier Caron; Sabina Gallati; Frank Baas; Wolfram Kress; Giuseppe Novelli; Maria Rosaria D'Apice; Clotilde Lagier-Tourenne; Anna Buj-Bello; Norma B Romero; Jean-Louis Mandel
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Human genetics 2003;112(2):135-42.
2002: Dominique Helmlinger; Gaël Yvert; Serge Picaud; Karine Merienne; José Sahel; Jean-Louis Mandel; Didier Devys
Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice.
Human molecular genetics 2002;11(26):3351-9.
2002: Anna Buj-Bello; Vincent Laugel; Nadia Messaddeq; Hala Zahreddine; Jocelyn Laporte; Jean-Francois Pellissier; Jean-Louis Mandel
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(23):15060-5.
2002: Clotilde Lagier-Tourenne; Denys Chaigne; J Gong; Jean Flori; M Mohr; D Ruh; D Christmann; Jacques Flament; Jean-Louis Mandel; Michel Koenig; Hélène Dollfus
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
Journal of medical genetics 2002;39(11):838-43.
2002: Anna Buj-Bello; Denis Furling; Hélène Tronchère; Jocelyn Laporte; Thierry Lerouge; Gillian Butler-Browne; Jean-Louis Mandel
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Human molecular genetics 2002;11(19):2297-307.
2002: Astrid Lunkes; Katrin S Lindenberg; Léa Ben-Haïem; Chantal Weber; Didier Devys; G Bernhard Landwehrmeyer; Jean-Louis Mandel; Yvon Trottier
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.
Molecular cell 2002;10(2):259-69.
2002: Jocelyn Laporte; Francois Blondeau; Anne Gansmuller; Yves Lutz; Jean-Luc Vonesch; Jean-Louis Mandel
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Journal of cell science 2002;115(Pt 15):3105-17.
2002: Barbara Bardoni; Jean-Louis Mandel
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
Current opinion in genetics & development 2002;12(3):284-93.
2002: Aurora Pujol; Colette Hindelang; Noëlle Callizot; Udo Bartsch; Melitta Schachner; Jean-Louis Mandel
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.
Human molecular genetics 2002;11(5):499-505.
2002: Jocelyn Laporte; Laurence Liaubet; Francois Blondeau; Hélène Tronchère; Jean-Louis Mandel; Bernard Payrastre
Functional redundancy in the myotubularin family.
Biochemical and biophysical research communications 2002;291(2):305-12.
2001: Hervé Moine; Jean-Louis Mandel
Biomedicine. Do G quartets orchestrate fragile X pathology?
Science (New York, N.Y.) 2001;294(5551):2487-8.
2001: Barbara Bardoni; Annette Schenck; Jean-Louis Mandel
The Fragile X mental retardation protein.
Brain research bulletin 2001;56(3-4):375-82.
2001: Céline Schaeffer; Barbara Bardoni; Jean-Louis Mandel; Bernard Ehresmann; Chantal Ehresmann; Hervé Moine
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.
The EMBO journal 2001;20(17):4803-13.
2001: Gaël Yvert; Katrin S Lindenberg; Didier Devys; Dominique Helmlinger; G Bernhard Landwehrmeyer; Jean-Louis Mandel
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.
Human molecular genetics 2001;10(16):1679-92.
2001: Annette Schenck; Barbara Bardoni; A Moro; Claudia Bagni; Jean-Louis Mandel
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(15):8844-9.
2001: Jocelyn Laporte; Wolfram Kress; Jean-Louis Mandel
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Annals of neurology 2001;50(1):42-6.
2001: Marie-Claire Vincent; Valérie Biancalana; D Ginisty; Jean-Louis Mandel; Patrick Calvas
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
European journal of human genetics : EJHG 2001;9(5):355-63.
2001: Jocelyn Laporte; Francois Blondeau; Anna Buj-Bello; Jean-Louis Mandel
The myotubularin family: from genetic disease to phosphoinositide metabolism.
Trends in genetics : TIG 2001;17(4):221-8.
2001: Didier Devys; Gaël Yvert; Astrid Lunkes; Yvon Trottier; Jean-Louis Mandel
Pathological mechanisms in polyglutamine expansion diseases.
Advances in experimental medicine and biology 2001;487():199-210.
2000: Aurora Pujol; Nathalie Troffer-Charlier; Elisabeth Metzger; Giovanna Chimini; Jean-Louis Mandel
Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.
Genomics 2000;70(1):131-9.
2000: Christophe Guiraud-Chaumeil; Jocelyn Laporte; Jean-Louis Mandel; Jean-Marie Warter
[Myotubular myopathy].
Revue neurologique 2000;156(11):960-4.
2000: Gaël Yvert; Katrin S Lindenberg; Serge Picaud; G Bernhard Landwehrmeyer; José-Alain Sahel; Jean-Louis Mandel
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.
Human molecular genetics 2000;9(17):2491-506.
2000: Francois Blondeau; Jocelyn Laporte; Stephane Bodin; G Superti-Furga; Bernard Payrastre; Jean-Louis Mandel
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Human molecular genetics 2000;9(15):2223-9.
2000: Barbara Bardoni; Sabrina Giglio; Annette Schenck; M Rocchi; Jean-Louis Mandel
Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.
Cytogenetics and cell genetics 2000;89(1-2):11-3.
2000: Jocelyn Laporte; Valérie Biancalana; SM Tanner; Wolfram Kress; V Schneider; Carina Wallgren-Pettersson; F Herger; Anna Buj-Bello; Francois Blondeau; S Liechti-Gallati; Jean-Louis Mandel
MTM1 mutations in X-linked myotubular myopathy.
Human mutation 2000;15(5):393-409.
1999: Barbara Bardoni; Annette Schenck; Jean-Louis Mandel
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.
Human molecular genetics 1999;8(13):2557-66.
1999: Astrid Lunkes; Yvon Trottier; J Fagart; P Schultz; Gabrielle Zeder-Lutz; D Moras; Jean-Louis Mandel
Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1013-9.
1999: Karine Merienne; Sylvie Jacquot; Solange Pannetier; Maria Zeniou; A Bankier; Jozef Gecz; Jean-Louis Mandel; John C Mulley; Paolo Sassone-Corsi; André Hanauer
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
Nature genetics 1999;22(1):13-4.
1999: Mireille Cossée; Alexandra Dürr; Martine Schmitt; Niklas Dahl; P Trouillas; P Allinson; M Kostrzewa; A Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschuetter; U Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; F Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; M Labuda; L Montermini; J Poirier; Massimo Pandolfo
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Anna Buj-Bello; Valérie Biancalana; C Moutou; Jocelyn Laporte; Jean-Louis Mandel
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Human mutation 1999;14(4):320-5.
1998: Sylvie Jacquot; Karine Merienne; Dario De Cesare; Solange Pannetier; Jean-Louis Mandel; Paolo Sassone-Corsi; André Hanauer
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
American journal of human genetics 1998;63(6):1631-40.
1998: Yvon Trottier; G Cancel; I An-Gourfinkel; Yves Lutz; Chantal Weber; Alexis Brice; Etienne C Hirsch; Jean-Louis Mandel
Heterogeneous intracellular localization and expression of ataxin-3.
Neurobiology of disease 1998;5(5):335-47.
1998: cyril broccardo; Nathalie Troffer-Charlier; Stéphane Savary; Jean-Louis Mandel; Giovanna Chimini
Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
European journal of human genetics : EJHG 1998;6(6):638-41.
1998: Jocelyn Laporte; Francois Blondeau; Anna Buj-Bello; Dmitry Tentler; Christine Kretz; Niklas Dahl; Jean-Louis Mandel
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Human molecular genetics 1998;7(11):1703-12.
1998: Astrid Lunkes; Jean-Louis Mandel
A cellular model that recapitulates major pathogenic steps of Huntington's disease.
Human molecular genetics 1998;7(9):1355-61.
1998: Jocelyn Laporte; Christophe Guiraud-Chaumeil; SM Tanner; Francois Blondeau; L J Hu; S Vicaire; S Liechti-Gallati; Jean-Louis Mandel
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
European journal of human genetics : EJHG 1998;6(4):325-30.
1998: Nathalie Troffer-Charlier; Nathalie Doerflinger; Elisabeth Metzger; Françoise Fouquet; Jean-Louis Mandel; Patrick Aubourg
Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines.
European journal of cell biology 1998;75(3):254-64.
1998: Marie-Claire Vincent; Christophe Guiraud-Chaumeil; Jocelyn Laporte; Sylvie MANOUVRIER; Jean-Louis Mandel
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Journal of medical genetics 1998;35(3):241-3.
1998: L Cavalier; K Ouahchi; H J Kayden; S Di Donato; Laurence Reutenauer; Jean-Louis Mandel; Michel Koenig
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
American journal of human genetics 1998;62(2):301-10.
1998: Astrid Lunkes; Yvon Trottier; Jean-Louis Mandel
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases.
Essays in biochemistry 1998;33():149-63.
1997: Florian Toti; V Schindler; J F Riou; G Lombard-Platet; E Fressinaud; Dominique Meyer; A Uzan; J B Le Pecq; Jean-Louis Mandel; Jean-Marie Freyssinet
Another link between phospholipid transmembrane migration and ABC transporter gene family, inferred from a rare inherited disorder of phosphatidylserine externalization.
Biochemical and biophysical research communications 1997;241(2):548-52.
1997: Isabelle Gourfinkel-An; G Cancel; Yvon Trottier; Didier Devys; Làszlò Tora; Yves Lutz; G Imbert; Frédéric Saudou; Giovanni Stevanin; Yves Agid; Alexis Brice; Jean-Louis Mandel; Etienne C Hirsch
Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Annals of neurology 1997;42(5):712-9.
1997: Astrid Lunkes; Jean-Louis Mandel
Polyglutamines, nuclear inclusions and neurodegeneration.
Nature medicine 1997;3(11):1201-2.
1997: Michel Koenig; Jean-Louis Mandel
Deciphering the cause of Friedreich ataxia.
Current opinion in neurobiology 1997;7(5):689-94.
1997: V Campuzano; L Montermini; Yves Lutz; Lidia Cova; Colette Hindelang; S Jiralerspong; Yvon Trottier; Stephen J Kish; Baptiste A Faucheux; P Trouillas; Jerome Authier; Alexandra Dürr; Jean-Louis Mandel; A Vescovi; Massimo Pandolfo; Michel Koenig
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Human molecular genetics 1997;6(11):1771-80.
1997: Jocelyn Laporte; Christophe Guiraud-Chaumeil; Marie-Claire Vincent; Jean-Louis Mandel; SM Tanner; S Liechti-Gallati; Carina Wallgren-Pettersson; N Dahl; W Kress; P A Bolhuis; M Fardeau; F Samson; E Bertini
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
Human molecular genetics 1997;6(9):1505-11.
1997: G David; Nacer Abbas; Giovanni Stevanin; Alexandra Dürr; Gaël Yvert; G Cancel; C Weber; G Imbert; Frédéric Saudou; E Antoniou; Harry A Drabkin; Robert M Gemmill; Paola Giunti; Ali Benomar; Nicholas W Wood; Merle Ruberg; Yves Agid; Jean-Louis Mandel; Alexis Brice
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Nature genetics 1997;17(1):65-70.
1997: Mireille Cossée; Martine Schmitt; V Campuzano; Laurence Reutenauer; C Moutou; Jean-Louis Mandel; Michel Koenig
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(14):7452-7.
1997: C Moutou; Marie-Claire Vincent; Valérie Biancalana; Jean-Louis Mandel
Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.
Human molecular genetics 1997;6(7):971-9.
1997: Christophe Guiraud-Chaumeil; Marie-Claire Vincent; Jocelyn Laporte; M Fardeau; F Samson; Jean-Louis Mandel
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
American journal of human genetics 1997;60(6):1542-4.
1997: Jocelyn Laporte; P Kioschis; L J Hu; Christine Kretz; B Carlsson; A Poustka; Jean-Louis Mandel; Niklas Dahl
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Genomics 1997;41(3):458-62.
1997: G Cancel; Alexandra Dürr; O Didierjean; G Imbert; Katrin Bürk; Agnes Lezin; Samir Belal; Ali Benomar; M Abada-Bendib; C Vial; J Guimarães; H Chneiweiss; Giovanni Stevanin; Gaël Yvert; Nacer Abbas; Frédéric Saudou; Anne-Sophie Lebre; Mohamed Yahyaoui; Faycal Hentati; JC Vernant; Thomas Klockgether; Jean-Louis Mandel; Yves Agid; Alexis Brice
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Human molecular genetics 1997;6(5):709-15.
1997: Mireille Cossée; V Campuzano; Hana Koutnikova; K Fischbeck; Jean-Louis Mandel; Michel Koenig; Sanjay I Bidichandani; Pragna I Patel; M D Moltè; J Cañizares; Rosa de Frutos; Luigi Pianese; F Cavalcanti; Antonella Monticelli; Sergio Cocozza; L Montermini; Massimo Pandolfo
Frataxin fracas.
Nature genetics 1997;15(4):337-8.
1997: Mireille Cossée; C Moutou; Valérie Biancalana; J C Bouix; G Plessis; Bruno Delobel; Marie-Françoise Croquette; S Gilgenkrantz; J C Lambert; G Malpuech; C Stoll; J L Lanoe; M Pechevis; Jean-Louis Mandel
[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(3):227-36.
1997: Barbara Bardoni; A Sittler; Y Shen; Jean-Louis Mandel
Analysis of domains affecting intracellular localization of the FMRP protein.
Neurobiology of disease 1997;4(5):329-36.
1996: P Aubourg; Jean-Louis Mandel
X-linked adrenoleukodystrophy.
Annals of the New York Academy of Sciences 1996;804():461-76.
1996: Elisabeth Trivier; Dario De Cesare; Sylvie Jacquot; Solange Pannetier; E Zackai; I Young; Jean-Louis Mandel; Paolo Sassone-Corsi; André Hanauer
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
Nature 1996;384(6609):567-70.
1996: Giovanni Stevanin; Yvon Trottier; G Cancel; Alexandra Dürr; G David; O Didierjean; Katrin Bürk; G Imbert; Frédéric Saudou; M Abada-Bendib; Isabelle Gourfinkel-An; Ali Benomar; Nacer Abbas; Thomas Klockgether; Djamel Grid; Yves Agid; Jean-Louis Mandel; Alexis Brice
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
Human molecular genetics 1996;5(12):1887-92.
1996: G Imbert; Frédéric Saudou; Gaël Yvert; Didier Devys; Yvon Trottier; J M Garnier; C Weber; Jean-Louis Mandel; G Cancel; Nacer Abbas; Alexandra Dürr; O Didierjean; Giovanni Stevanin; Yves Agid; Alexis Brice
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics 1996;14(3):285-91.
1996: Alexandra Dürr; M Cossee; Yves Agid; V Campuzano; C Mignard; C Penet; Jean-Louis Mandel; Alexis Brice; Michel Koenig
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The New England journal of medicine 1996;335(16):1169-75.
1996: L J Hu; Jocelyn Laporte; Petra Kioschis; S Heyberger; Christine Kretz; Annemarie Poustka; Jean-Louis Mandel; N Dahi
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.
Human genetics 1996;98(2):178-81.
1996: V Feigenbaum; G Lombard-Platet; S Guidoux; C O Sarde; Jean-Louis Mandel; Patrick Aubourg
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
American journal of human genetics 1996;58(6):1135-44.
1996: Jocelyn Laporte; L J Hu; Christine Kretz; Jean-Louis Mandel; Petra Kioschis; Johannes F Coy; Sabine M Klauck; Annemarie Poustka; Niklas Dahl
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Nature genetics 1996;13(2):175-82.
1996: V Campuzano; L Montermini; M D Moltò; Luigi Pianese; Mireille Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; Antonella Monticelli; F Zara; J Cañizares; Hana Koutnikova; Sanjay I Bidichandani; Cinzia Gellera; Alexis Brice; P Trouillas; Giuseppe De Michele; Alessandro Filla; Rosa de Frutos; Francesc Palau; Pragna I Patel; Stefano Di Donato; Jean-Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: G Lombard-Platet; Stéphane Savary; C O Sarde; Jean-Louis Mandel; Giovanna Chimini
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(3):1265-9.
1996: Frédéric Saudou; Didier Devys; Yvon Trottier; G Imbert; M E Stoeckel; Alexis Brice; Jean-Louis Mandel
Polyglutamine expansions and neurodegenerative diseases.
Cold Spring Harbor symposia on quantitative biology 1996;61():639-47.
1996: Jean-Louis Mandel; Valérie Biancalana; Mireille Cossée; Didier Devys; C Moutou
[Mental retardation in fragile X syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():349s-350s.
1996: L J Hu; Jocelyn Laporte; W Kress; Petra Kioschis; R Siebenhaar; Annemarie Poustka; M Fardeau; Aida Metzenberg; Emiel Janssen; N Thomas; Jean-Louis Mandel; Niklas Dahl
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Human molecular genetics 1996;5(1):139-43.
1996: A Sittler; Didier Devys; C Weber; Jean-Louis Mandel
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms.
Human molecular genetics 1996;5(1):95-102.
1995: N Nadal; M O Rolland; C Tranchant; Laurence Reutenauer; Gabor Gyapay; J M Warter; Jean-Louis Mandel; Michel Koenig
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
Human molecular genetics 1995;4(10):1963-6.
1995: Yvon Trottier; Didier Devys; G Imbert; Frédéric Saudou; I An; Yves Lutz; C Weber; Yves Agid; Etienne C Hirsch; Jean-Louis Mandel
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
Nature genetics 1995;10(1):104-10.
1995: Edouard W Khandjian; A Fortin; A Thibodeau; S Tremblay; F Côté; Didier Devys; Jean-Louis Mandel; Francois Rousseau
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture.
Human molecular genetics 1995;4(5):783-9.
1995: Nathalie Cartier; J Lopez; Philippe Moullier; F Rocchiccioli; M O Rolland; P Jorge; J Mosser; Jean-Louis Mandel; Pierre Bougnères; O Danos
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(5):1674-8.
1995: K Ouahchi; M Arita; H Kayden; Faycal Hentati; M Ben Hamida; Ronald Sokol; H Arai; K Inoue; Jean-Louis Mandel; Michel Koenig
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
Nature genetics 1995;9(2):141-5.
1994: C O Sarde; J Thomas; H Sadoulet; Jean-Marie Garnier; Jean-Louis Mandel
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(12):810-3.
1994: Niklas Dahl; F Samson; N S Thomas; L J Hu; W Gong; G Herman; Jocelyn Laporte; Petra Kioschis; Annemarie Poustka; Jean-Louis Mandel
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Journal of medical genetics 1994;31(12):922-4.
1994: Pascale Fanen; S Guidoux; C O Sarde; Jean-Louis Mandel; Michel Goossens; Patrick Aubourg
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
The Journal of clinical investigation 1994;94(2):516-20.
1994: L J Hu; S Blumenfeld-Heyberger; André Hanauer; J Weissenbach; Jean-Louis Mandel
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.
American journal of medical genetics 1994;51(4):569-74.
1994: Yvon Trottier; G Imbert; A Poustka; J P Fryns; Jean-Louis Mandel
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.
American journal of medical genetics 1994;51(4):454-7.
1994: J Mosser; C O Sarde; S Vicaire; J R Yates; Jean-Louis Mandel
A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene.
Genomics 1994;22(2):469-71.
1994: Jean-Louis Mandel
Towards identification of X-linked mental retardation genes: a proposal.
American journal of medical genetics 1994;51(4):550-2.
1994: C O Sarde; J Mosser; Petra Kioschis; Christine Kretz; S Vicaire; Patrick Aubourg; Annemarie Poustka; Jean-Louis Mandel
Genomic organization of the adrenoleukodystrophy gene.
Genomics 1994;22(1):13-20.
1994: G Imbert; Yvon Trottier; Jacques Beckmann; Jean-Louis Mandel
The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.
Genomics 1994;21(3):667-8.
1994: F Duclos; F Rodius; K Wrogemann; Jean-Louis Mandel; Michel Koenig
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.
Human molecular genetics 1994;3(6):909-14.
1994: Robert I Richards; K Holman; K Friend; A Staples; G R Sutherland; Claudine Oudet; Valérie Biancalana; Jean-Louis Mandel
FRAXAC2 instability.
Nature genetics 1994;7(2):122; author reply 123.
1994: Miguel A Contreras; J Mosser; Jean-Louis Mandel; Patrick Aubourg; Inderjit Singh
The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein.
FEBS letters 1994;344(2-3):211-5.
1994: M Chery; Valérie Biancalana; C Philippe; G Malpuech; H Carla; S Gilgenkrantz; Jean-Louis Mandel; André Hanauer
Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.
Human genetics 1994;93(5):587-91.
1994: J Mosser; Yves Lutz; M E Stoeckel; C O Sarde; Christine Kretz; A M Douar; J Lopez; Patrick Aubourg; Jean-Louis Mandel
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
Human molecular genetics 1994;3(2):265-71.
1994: Giorgio Sirugo; F Duclos; R Fujita; J B Keats; Massimo Pandolfo; Jean-Louis Mandel; Michel Koenig
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):219-24.
1994: A M Douar; J Mosser; C O Sarde; J Lopez; Jean-Louis Mandel; Patrick Aubourg
X-linked adrenoleukodystrophy gene: identification of a candidate gene by positional cloning.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):215-8.
1993: Yvon Trottier; Didier Devys; Jean-Louis Mandel
An expanding story.
Current biology : CB 1993;3(11):783-6.
1993: Mongi Ben Hamida; Samir Belal; Giorgio Sirugo; Christiane Ben Hamida; Kyproula Christodoulou; P Ionannou; Jacques Beckmann; Jean-Louis Mandel; Faycal Hentati; Michel Koenig
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Neurology 1993;43(11):2179-83.
1993: Nathalie Cartier; C O Sarde; A M Douar; J Mosser; Jean-Louis Mandel; Patrick Aubourg
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
Human molecular genetics 1993;2(11):1949-51.
1993: Didier Devys; Yves Lutz; N Rouyer; Jean-Pierre Bellocq; Jean-Louis Mandel
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
Nature genetics 1993;4(4):335-40.
1993: G Imbert; Christine Kretz; keith jack johnson; Jean-Louis Mandel
Origin of the expansion mutation in myotonic dystrophy.
Nature genetics 1993;4(1):72-6.
1993: J Mosser; A M Douar; C O Sarde; Petra Kioschis; Robert Feil; H Moser; A M Poustka; Jean-Louis Mandel; Patrick Aubourg
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Nature 1993;361(6414):726-30.
1993: Patrick Aubourg; J Mosser; A M Douar; C O Sarde; J Lopez; Jean-Louis Mandel
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.
Biochimie 1993;75(3-4):293-302.
1993: K Wrogemann; Valérie Biancalana; Didier Devys; G Imbert; Yvon Trottier; Jean-Louis Mandel
Microsatellites and disease: a new paradigm.
EXS 1993;67():141-52.
1993: F Duclos; U Boschert; Giorgio Sirugo; Jean-Louis Mandel; R Hen; Michel Koenig
Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(1):109-13.
1992: Samir Belal; Kyproula Christodoulou; Giorgio Sirugo; Christiane Ben Hamida; P Ioannou; Faycal Hentati; Jacques Beckmann; Michel Koenig; Jean-Louis Mandel; Mongi Ben Hamida
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
American journal of human genetics 1992;51(6):1372-6.
1992: D Heitz; Didier Devys; G Imbert; Christine Kretz; Jean-Louis Mandel
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
Journal of medical genetics 1992;29(11):794-801.
1992: Claudine Oudet; André Hanauer; P Clemens; T Caskey; Jean-Louis Mandel
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions.
Human molecular genetics 1992;1(8):599-603.
1992: R Fujita; Giorgio Sirugo; F Duclos; H Abderrahim; D Le Paslier; D Cohen; B H Brownstein; David Schlessinger; Jean-Louis Mandel; Michel Koenig
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
Human genetics 1992;89(5):531-8.
1992: Valérie Biancalana; F Serville; J Pommier; J Julien; André Hanauer; Jean-Louis Mandel
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
Human molecular genetics 1992;1(4):255-8.
1992: Jean-Louis Mandel; D Heitz
Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.
Current opinion in genetics & development 1992;2(3):422-30.
1992: H Malmgren; M L Steén-Bondeson; Karl-Henrik Gustavson; E Seémanova; G Holmgren; I Oberlé; Jean-Louis Mandel; Ulf Pettersson; Niklas Dahl
Methylation and mutation patterns in the fragile X syndrome.
American journal of medical genetics 1992;43(1-2):268-78.
1992: I Oberlé; J Boué; M F Croquette; Marie-Antoinette Voelckel; M G Mattei; Jean-Louis Mandel
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.
American journal of medical genetics 1992;43(1-2):224-31.
1992: Didier Devys; Valérie Biancalana; Francois Rousseau; J Boué; Jean-Louis Mandel; I Oberlé
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.
American journal of medical genetics 1992;43(1-2):208-16.
1992: Francois Rousseau; D Heitz; Valérie Biancalana; I Oberlé; Jean-Louis Mandel
On some technical aspects of direct DNA diagnosis of the fragile X syndrome.
American journal of medical genetics 1992;43(1-2):197-207.
1992: B Quantin; L D Perricaudet; Shahragim Tajbakhsh; Jean-Louis Mandel
Adenovirus as an expression vector in muscle cells in vivo.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(7):2581-4.
1992: Giorgio Sirugo; B Keats; R Fujita; F Duclos; K Purohit; Michel Koenig; Jean-Louis Mandel
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
American journal of human genetics 1992;50(3):559-66.
1992: Francois Rousseau; D Heitz; Jean-Louis Mandel
The unstable and methylatable mutations causing the fragile X syndrome.
Human mutation 1992;1(2):91-6.
1991: Francois Rousseau; D Heitz; I Oberlé; Jean-Louis Mandel
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
Journal of medical genetics 1991;28(12):830-6.
1991: Robert Feil; Patrick Aubourg; J Mosser; A M Douar; D Le Paslier; C Philippe; Jean-Louis Mandel
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
American journal of human genetics 1991;49(6):1361-71.
1991: R Fujita; A Hanauer; A Vincent; Jean-Louis Mandel; Michel Koenig
Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
Genomics 1991;10(4):915-20.
1991: Claudine Oudet; R Heilig; André Hanauer; Jean-Louis Mandel
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
American journal of human genetics 1991;49(2):311-9.
1991: I Oberlé; Francois Rousseau; D Heitz; Christine Kretz; Didier Devys; André Hanauer; J Boué; M F Bertheas; Jean-Louis Mandel
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
Science (New York, N.Y.) 1991;252(5009):1097-102.
1991: A Vincent; D Heitz; C Petit; Christine Kretz; I Oberlé; Jean-Louis Mandel
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Nature 1991;349(6310):624-6.
1991: I Oberlé; A Vincent; N Abbadi; Francois Rousseau; P E Hupkes; M C Hors-Cayla; S Gilgenkrantz; B A Oostra; Jean-Louis Mandel
New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.
American journal of medical genetics 1991;38(2-3):336-42.
1991: Francois Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; Stephen Warren; G K Suthers; P Goodfellow; Jean-Louis Mandel
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
American journal of human genetics 1991;48(1):108-16.
1990: Claudine Oudet; R Heilig; Jean-Louis Mandel
An informative polymorphism detectable by polymerase chain reaction at the 3' end of dystrophin gene.
Human genetics 1990;85(6):677.
1990: André Hanauer; R Fujita; Paul Trouillas; C Tommasi-Davenas; Yves Agid; A Seck; Jean-Louis Mandel
Prenatal diagnosis of Friedreich ataxia.
Lancet 1990;335(8697):1102.
1990: B Arveiler; Geneviève de Saint Basile; A Fischer; C Griscelli; Jean-Louis Mandel
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.
American journal of human genetics 1990;46(5):906-11.
1990: Robert Feil; G Palmieri; M d'Urso; R Heilig; I Oberlé; Jean-Louis Mandel
Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.
American journal of human genetics 1990;46(4):720-8.
1990: Patrick Aubourg; Robert Feil; S Guidoux; Jean-Claude Kaplan; H Moser; A Kahn; Jean-Louis Mandel
The red-green visual pigment gene region in adrenoleukodystrophy.
American journal of human genetics 1990;46(3):459-69.
1990: R Fujita; André Hanauer; Giorgio Sirugo; R Heilig; Jean-Louis Mandel
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(5):1796-800.
1990: Robert Feil; Patrick Aubourg; R Heilig; Jean-Louis Mandel
A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes.
Genomics 1990;6(2):367-73.
1990: Claudine Oudet; R Heilig; Jean-Louis Mandel
An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.
Human genetics 1990;84(3):283-5.
1990: Francois Rousseau; A Vincent; I Oberlé; Jean-Louis Mandel
New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.
Human genetics 1990;84(3):263-6.
1990: André Hanauer; M Chery; R Fujita; A J Driesel; S Gilgenkrantz; Jean-Louis Mandel
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
American journal of human genetics 1990;46(1):133-7.
1989: S Guioli; B Arveiler; Barbara Bardoni; Luigi D Notarangelo; P Panina; M Duse; Alberto G Ugazio; I Oberlé; Geneviève de Saint Basile; Jean-Louis Mandel
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
Human genetics 1989;84(1):19-21.
1989: A Vincent; Niklas Dahl; I Oberlé; André Hanauer; Jean-Louis Mandel; H Malmgren; Ulf Pettersson
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.
Genomics 1989;5(4):797-801.
1989: B Arveiler; A Vincent; Jean-Louis Mandel
Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.
Genomics 1989;4(4):460-71.
1989: A Vincent; Christine Kretz; I Oberlé; Jean-Louis Mandel
A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome.
Human genetics 1989;82(1):85-6.
1989: R Fujita; Yves Agid; Paul Trouillas; A Seck; C Tommasi-Davenas; A J Driesel; K Olek; K H Grzeschik; Y Nakamura; Jean-Louis Mandel; André Hanauer
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.
Genomics 1989;4(1):110-1.
1988: C Lemaire; R Heilig; Jean-Louis Mandel
Nucleotide sequence of chicken dystrophin cDNA.
Nucleic acids research 1988;16(24):11815-6.
1988: C Lemaire; R Heilig; Jean-Louis Mandel
The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken.
The EMBO journal 1988;7(13):4157-62.
1988: André Hanauer; Y Alembik; B Arveiler; L Formiga; S Gilgenkrantz; Jean-Louis Mandel
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.
Human genetics 1988;80(2):177-80.
1988: B Arveiler; Martin Petkovich; Jean-Louis Mandel; Pierre Chambon
A PstI RFLP for the human retinoic acid receptor in 17q21.
Nucleic acids research 1988;16(13):6252.
1988: J P Moisan; M G Mattei; Jean-Louis Mandel
Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers.
Human genetics 1988;79(2):168-71.
1988: B Arveiler; Y Alembik; André Hanauer; P Jacobs; L Tranebjaerg; M Mikkelsen; H Puissant; L L Piet; Jean-Louis Mandel
Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
American journal of medical genetics 1988;30(1-2):473-83.
1988: R Heilig; I Oberlé; B Arveiler; André Hanauer; M Vidaud; Jean-Louis Mandel
Improved DNA markers for efficient analysis of fragile X families.
American journal of medical genetics 1988;30(1-2):543-50.
1988: L C Amar; L Dandolo; A Hanauer; A R Cook; Danielle Arnaud; Jean-Louis Mandel; Philip Avner
Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse.
Genomics 1988;2(3):220-30.
1988: W Ted Brown; A Gross; C Chan; Edmund C. Jenkins; Jean-Louis Mandel; I Oberlé; B Arveiler; G Novelli; S Thibodeau; Randi J Hagerman
Multilocus analysis of the fragile X syndrome.
Human genetics 1988;78(3):201-5.
1988: B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; Jean-Louis Mandel
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.
American journal of human genetics 1988;42(2):380-9.
1987: R Heilig; C Lemaire; Jean-Louis Mandel
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region.
Nucleic acids research 1987;15(22):9129-42.
1987: Sue Malcolm; Geneviève de Saint Basile; B Arveiler; Y L Lau; P Szabo; A Fischer; C Griscelli; M Debre; Jean-Louis Mandel; Robin Callard
Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
Human genetics 1987;77(2):172-4.
1987: I Oberlé; G Camerino; Klaus Wrogemann; B Arveiler; André Hanauer; E Raimondi; Jean-Louis Mandel
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.
Human genetics 1987;77(1):60-5.
1987: B Arveiler; I Oberlé; Jean-Louis Mandel
Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.
Genomics 1987;1(1):60-6.
1987: R Heilig; C Lemaire; Jean-Louis Mandel; L Dandolo; L Amar; Philip Avner
Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome.
Nature 1987;328(6126):168-70.
1986: K Wrogemann; M Koenig; Y Alembik; Jean-Louis Mandel
An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, 1985].
Nucleic acids research 1986;14(10):4377.
1986: Jean-Louis Mandel; B Arveiler; G Camerino; André Hanauer; R Heilig; M Koenig; I Oberlé
Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():195-203.
1986: I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; Jean-Louis Mandel
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.
Human genetics 1986;72(1):43-9.
1985: M Koenig; J P Moisan; R Heilig; Jean-Louis Mandel
Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution.
Nucleic acids research 1985;13(15):5485-501.
1984: T Tønnesen; F Søndergaard; Flemming Güttler; I Oberlé; J P Moisan; Jean-Louis Mandel; M Hauge; E M Damsgård
Exclusion of haemophilia B in male fetus by chorionic villus biopsy.
Lancet 1984;2(8408):932.
1984: M Koenig; G Camerino; R Heilig; Jean-Louis Mandel
A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.
Nucleic acids research 1984;12(10):4097-109.
1984: L Grunebaum; J P Cazenave; G Camerino; C Kloepfer; Jean-Louis Mandel; P Tolstoshev; M Jaye; H De la Salle; J P Lecocq
Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.
The Journal of clinical investigation 1984;73(5):1491-5.
1984: G Camerino; K H Grzeschik; M Jaye; H De La Salle; P Tolstoshev; J P Lecocq; R Heilig; Jean-Louis Mandel
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).
Proceedings of the National Academy of Sciences of the United States of America 1984;81(2):498-502.
1982: R Heilig; R Muraskowsky; C Kloepfer; Jean-Louis Mandel
The ovalbumin gene family: complete sequence and structure of the Y gene.
Nucleic acids research 1982;10(14):4363-82.