Jean-Louis Mandel - Publications

Affiliations: 
Institut de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, Grand Est, France 

53 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E, Krężel W, Alunni V, Koebel P, Dembélé D, Tassone F, Bardoni B, Mandel JL, Vitale N, Muller D, et al. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proceedings of the National Academy of Sciences of the United States of America. PMID 27233938 DOI: 10.1073/Pnas.1522631113  0.92
2015 Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, ... ... Mandel JL, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg. PMID 25920557 DOI: 10.1038/Ejhg.2015.29  0.44
2014 Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, ... ... Mandel JL, et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain : a Journal of Neurology. 137: 3160-70. PMID 25260562 DOI: 10.1093/Brain/Awu272  0.44
2014 Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, ... ... Mandel JL, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Journal of Medical Genetics. 51: 724-36. PMID 25167861 DOI: 10.1136/Jmedgenet-2014-102554  0.44
2014 Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FAC, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation Brain. 137: 411-419. PMID 24369382 DOI: 10.1093/brain/awt338  0.44
2014 Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, ... ... Mandel JL, et al. 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. European Journal of Human Genetics : Ejhg. 22: 776-83. PMID 24169519 DOI: 10.1038/Ejhg.2013.243  0.44
2014 Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martínez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care. 37: 460-7. PMID 24041679 DOI: 10.2337/Dc13-0698  0.44
2012 Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, ... Mandel JL, et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. Journal of Medical Genetics. 49: 502-12. PMID 22773737 DOI: 10.1136/Jmedgenet-2012-100875  0.44
2012 Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathologica. 124: 273-83. PMID 22526018 DOI: 10.1007/S00401-012-0982-8  0.44
2012 Mandel JL. Genomic revolution of rare disease diagnosis Presse Medicale. 41. PMID 22503291 DOI: 10.1016/J.Lpm.2012.02.030  0.44
2012 Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Mandel JL, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067  0.44
2011 Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J. 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. 178: 2224-35. PMID 21514436 DOI: 10.1016/J.Ajpath.2011.01.054  0.44
2011 Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nature Genetics. 43: 306-8. PMID 21378989 DOI: 10.1038/Ng.778  0.44
2011 Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathologica. 121: 253-66. PMID 20927630 DOI: 10.1007/S00401-010-0754-2  0.44
2010 Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, et al. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Human Molecular Genetics. 19: 2005-14. PMID 20179078 DOI: 10.1093/hmg/ddq082  0.44
2010 Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Human Molecular Genetics. 19: 1399-412. PMID 20080938 DOI: 10.1093/Hmg/Ddq015  0.44
2010 Friedrich A, Garnier N, Gagnière N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deléage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O. SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. Human Mutation. 31: 127-35. PMID 19921752 DOI: 10.1002/Humu.21155  0.44
2009 Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscular Disorders : Nmd. 19: 255-60. PMID 19303295 DOI: 10.1016/J.Nmd.2009.02.003  0.44
2009 Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. Journal of Neurology. 256: 104-8. PMID 19224311 DOI: 10.1007/S00415-009-0083-3  0.44
2008 Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL. 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. 17: 2132-43. PMID 18434328 DOI: 10.1093/Hmg/Ddn112  0.44
2008 Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, ... ... Mandel JL, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. American Journal of Human Genetics. 82: 661-72. PMID 18319074 DOI: 10.1016/J.Ajhg.2007.12.024  0.44
2008 Laugel V, Cossée M, Matis J, de Saint-Martin A, Echaniz-Laguna A, Mandel JL, Astruc D, Fischbach M, Messer J. Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. European Journal of Pediatrics. 167: 517-23. PMID 17641914 DOI: 10.1007/S00431-007-0539-3  0.44
2007 Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, ... ... Mandel JL, et al. 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. 80: 1-11. PMID 17160889 DOI: 10.1086/510256  0.44
2006 Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. MéDecine Sciences : M/S. 22: 901-4. PMID 17101080 DOI: 10.1051/Medsci/20062211901  0.44
2006 Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, et al. 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. 14: 1195-203. PMID 16823392 DOI: 10.1038/Sj.Ejhg.5201688  0.44
2006 Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, ... ... Mandel JL, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38: 521-4. PMID 16582908 DOI: 10.1038/Ng1771  0.44
2006 Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, Weber C, Mérienne K, Mandel JL, Poch O, Devys D, Trottier Y. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Human Molecular Genetics. 15: 691-703. PMID 16434483 DOI: 10.1093/Hmg/Ddi483  0.44
2005 Castets M, Schaeffer C, Bechara E, Schenck A, Khandjian EW, Luche S, Moine H, Rabilloud T, Mandel JL, Bardoni B. FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Human Molecular Genetics. 14: 835-44. PMID 15703194 DOI: 10.1093/Hmg/Ddi077  0.92
2004 Helmlinger D, Bonnet J, Mandel JL, Trottier Y, Devys D. Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice. The Journal of Biological Chemistry. 279: 55969-77. PMID 15494410 DOI: 10.1074/Jbc.M409062200  0.44
2004 Schenck A, Qurashi A, Carrera P, Bardoni B, Diebold C, Schejter E, Mandel JL, Giangrande A. WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Developmental Biology. 274: 260-70. PMID 15385157 DOI: 10.1016/J.Ydbio.2004.07.009  0.44
2004 Biancalana V, Beldjord C, Taillandier A, Szpiro-Tapia S, Cusin V, Gerson F, Philippe C, Mandel JL, Voelckel MA, Guiochon-Mantel A, Doco-Fenzy M, Prieur F, Lesca G, Taine L, Bonnefont JP, et al. 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. 129: 218-224. PMID 15326620 DOI: 10.1002/Ajmg.A.30237  0.44
2004 Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Human Molecular Genetics. 13: 1257-65. PMID 15115762 DOI: 10.1093/Hmg/Ddh139  0.44
2004 Helmlinger D, Abou-Sleymane G, Yvert G, Rousseau S, Weber C, Trottier Y, Mandel JL, Devys D. 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. 24: 1881-7. PMID 14985428 DOI: 10.1523/Jneurosci.4407-03.2004  0.44
2003 Bardoni B, Willemsen R, Weiler IJ, Schenck A, Severijnen LA, Hindelang C, Lalli E, Mandel JL. NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Experimental Cell Research. 289: 95-107. PMID 12941608 DOI: 10.1016/S0014-4827(03)00222-2  0.92
2003 Bardoni B, Castets M, Huot ME, Schenk A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL. 82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization Human Molecular Genetics. 12: 1689-1698. PMID 12837692 DOI: 10.1093/Hmg/Ddg181  0.44
2003 Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, Giangrande A. CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron. 38: 887-98. PMID 12818175 DOI: 10.1016/S0896-6273(03)00354-4  0.44
2003 Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. American Journal of Human Genetics. 72: 454-64. PMID 12529854 DOI: 10.1086/367713  0.44
2003 Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics. 112: 135-42. PMID 12522554 DOI: 10.1007/S00439-002-0869-1  0.44
2002 Helmlinger D, Yvert G, Picaud S, Merienne K, Sahel J, Mandel JL, Devys D. Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Human Molecular Genetics. 11: 3351-9. PMID 12471061 DOI: 10.1093/Hmg/11.26.3351  0.44
2002 Bardoni B, Mandel JL. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Current Opinion in Genetics & Development. 12: 284-93. PMID 12076671 DOI: 10.1016/S0959-437X(02)00300-3  0.92
2002 Bardoni B, Schenck A, Mandel JL. The Fragile X mental retardation protein. Brain Research Bulletin. 56: 375-82. PMID 11719275 DOI: 10.1016/S0361-9230(01)00647-5  0.48
1999 Yvert G, Mandel JL. Variation on a trinucleotide theme. Nature Medicine. 5: 383-4. PMID 10202924 DOI: 10.1038/7381  0.44
1998 Khandjian EW, Bardoni B, Corbin F, Sittler A, Giroux S, Heitz D, Tremblay S, Pinset C, Montarras D, Rousseau F, Mandel J. Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Human Molecular Genetics. 7: 2121-8. PMID 9817930 DOI: 10.1093/Hmg/7.13.2121  0.92
1997 David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, ... ... Mandel JL, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genetics. 17: 65-70. PMID 9288099 DOI: 10.1038/Ng0997-65  0.44
1997 Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, ... ... Mandel JL, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Human Molecular Genetics. 6: 709-15. PMID 9158145 DOI: 10.1093/Hmg/6.5.709  0.44
1997 Mandel JL. Breaking the rule of three Nature. 386: 767-769. PMID 9126731 DOI: 10.1038/386767A0  0.44
1996 Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genetics. 14: 285-91. PMID 8896557 DOI: 10.1038/Ng1196-285  0.44
1995 Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nature Genetics. 9: 141-5. PMID 7719340 DOI: 10.1038/Ng0295-141  0.44
1995 Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, Weissenbach J, Donis-Keller H, Gatti R, Weber J, Nakamura Y, Julier C, Hayashi K, Spurr N, ... ... Mandel J, et al. The CEPH Consortium Linkage Map of Human Chromosome 11 Genomics. 27: 101-112. PMID 7665156 DOI: 10.1006/Geno.1995.1011  0.44
1994 Mandel JL. Trinucleotide diseases on the rise Nature Genetics. 7: 453-455. PMID 7951310 DOI: 10.1038/Ng0894-453  0.44
1993 Mandel JL. Questions of expansion Nature Genetics. 4: 8-9. PMID 8513331 DOI: 10.1038/Ng0593-8  0.44
1991 Vincent A, Hertz D, Petit C, Kretz C, Oberlé I, Mandel JL. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis Nature. 349: 624-626. PMID 1672039 DOI: 10.1038/349624a0  0.44
1977 Crerar MM, Andrews SJ, David ES, Somers DG, Mandel JL, Pearson ML. Amanitin binding to RNA polymerase II in α-amanitin-resistant rat myoblast mutants Journal of Molecular Biology. 112. PMID 559769 DOI: 10.1016/S0022-2836(77)80147-2  0.44
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