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Results: 1-25/33
Authors:
Chelly, J
Mandel, JL
Citation: J. Chelly et Jl. Mandel, Monogenic causes of X-linked mental retardation, NAT REV GEN, 2(9), 2001, pp. 669-680
Authors:
Vincent, MC
Biancalana, V
Ginisty, D
Mandel, JL
Calvas, P
Citation: Mc. Vincent et al., Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia, EUR J HUM G, 9(5), 2001, pp. 355-363
Authors:
Yvert, G
Lindenberg, KS
Devys, D
Helmlinger, D
Landwehrmeyer, GB
Mandel, JL
Citation: G. Yvert et al., SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types, HUM MOL GEN, 10(16), 2001, pp. 1679-1692
Authors:
Dorchies, OM
Laporte, J
Wagner, S
Hindelang, C
Warter, JM
Mandel, JL
Poindron, P
Citation: Om. Dorchies et al., Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system, NEUROMUSC D, 11(8), 2001, pp. 736-746
Authors:
Laporte, J
Kress, W
Mandel, JL
Citation: J. Laporte et al., Diagnosis of X-linked myotubular myopathy by detection of myotubularin, ANN NEUROL, 50(1), 2001, pp. 42-46
Authors:
Bardoni, B
Schenck, A
Mandel, JL
Citation: B. Bardoni et al., The Fragile X mental retardation protein, BRAIN RES B, 56(3-4), 2001, pp. 375-382
Authors:
Schaeffer, C
Bardoni, B
Mandel, JL
Ehresmann, B
Ehresmann, C
Moine, H
Citation: C. Schaeffer et al., The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif, EMBO J, 20(17), 2001, pp. 4803-4813
Authors:
Laporte, J
Blondeau, F
Buj-Bello, A
Mandel, JL
Citation: J. Laporte et al., The myotubularin family: from genetic disease to phosphoinositide metabolism, TRENDS GEN, 17(4), 2001, pp. 221-228
Authors:
Trottier, Y
Mandel, JL
Citation: Y. Trottier et Jl. Mandel, Biomedicine - Huntingtin - Profit and loss, SCIENCE, 293(5529), 2001, pp. 445-446
Authors:
Schenck, A
Bardoni, B
Moro, A
Bagni, C
Mandel, JL
Citation: A. Schenck et al., 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, P NAS US, 98(15), 2001, pp. 8844-8849
Authors:
Laporte, J
Biancalana, V
Tanner, SM
Kress, W
Schneider, V
Wallgren-Pettersson, C
Herger, F
Buj-Bello, A
Blondeau, F
Liechti-Gallati, S
Mandel, JL
Citation: J. Laporte et al., MTM1 mutations in X-linked myotubular myopathy, HUM MUTAT, 15(5), 2000, pp. 393-409
Authors:
Chen, YT
Bardoni, B
Yu, M
Zhu, N
Wu, GY
Mandel, JL
Shen, Y
Citation: Yt. Chen et al., Fragile X mental retardation protein interacts with TDG, CHIN SCI B, 45(6), 2000, pp. 516-520
Authors:
Yvert, G
Lindenberg, KS
Picaud, S
Landwehrmeyer, GB
Sahel, JA
Mandel, JL
Citation: G. Yvert et al., Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice, HUM MOL GEN, 9(17), 2000, pp. 2491-2506
Authors:
Blondeau, F
Laporte, J
Bodin, S
Superti-Furga, G
Payrastre, B
Mandel, JL
Citation: F. Blondeau et al., Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway, HUM MOL GEN, 9(15), 2000, pp. 2223-2229
Authors:
Pujol, A
Troffer-Charlier, N
Metzger, E
Chimini, G
Mandel, JL
Citation: A. Pujol et al., Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: Inductibility by retinoic acid and forskolin, GENOMICS, 70(1), 2000, pp. 131-139
Authors:
Bardoni, B
Giglio, S
Schenck, A
Rocchi, M
Mandel, JL
Citation: B. Bardoni et al., Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12, CYTOG C GEN, 89(1-2), 2000, pp. 11-13
Authors:
Bardoni, B
Mandel, JL
Fisch, GS
Citation: B. Bardoni et al., FMR1 gene and fragile X syndrome, AM J MED G, 97(2), 2000, pp. 153-163
Authors:
Fryns, JP
Borghgraef, M
Brown, TW
Chelly, J
Fisch, GS
Hamel, B
Hanauer, A
Lacombe, D
Luo, L
MacPherson, JN
Mandel, JL
Moraine, C
Mulley, J
Nelson, D
Oostra, B
Partington, M
Ramakers, GJA
Ropers, HH
Rousseau, F
Schwartz, C
Steinbach, P
Stoll, C
Tranebjaerg, L
Turner, G
Van Bokhoven, H
Vianna-Morgante, A
Villard, L
Warren, ST
Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360
Authors:
Guiraud-Chaumeil, C
Laporte, J
Mandel, JL
Warter, JM
Citation: C. Guiraud-chaumeil et al., Myotubular myopathy., REV NEUROL, 156(11), 2000, pp. 960-964
Authors:
Joober, R
Benkelfat, C
Jannatipour, M
Turecki, G
Lal, S
Mandel, JL
Bloom, D
Lalonde, P
Lopes-Cendes, I
Fortin, D
Rouleau, G
Citation: R. Joober et al., Polyglutamine-containing proteins in schizophrenia, MOL PSYCHI, 4(1), 1999, pp. 53-57
Authors:
Yvert, G
Mandel, JL
Citation: G. Yvert et Jl. Mandel, Variation on a trinucleotide theme, NAT MED, 5(4), 1999, pp. 383-384
Authors:
Merienne, K
Jacquot, S
Pannetier, S
Zeniou, M
Bankier, A
Gecz, J
Mandel, JL
Mulley, J
Sassone-Corsi, P
Hanauer, A
Citation: K. Merienne et al., A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation, NAT GENET, 22(1), 1999, pp. 13-14
Authors:
Buj-Bello, A
Biancalana, V
Moutou, C
Laporte, J
Mandel, JL
Citation: A. Buj-bello et al., Identification of novel mutations in the MTM1 gene causing severe and mildforms of X-linked myotubular myopathy, HUM MUTAT, 14(4), 1999, pp. 320-325
Authors:
Heckel, S
Favre, R
Flori, J
Koenig, M
Mandel, JL
Gasser, B
Chaigne, D
Citation: S. Heckel et al., In utero fetal muscle biopsy: A precious aid for the prenatal diagnosis ofDuchenne muscular dystrophy, FETAL DIAGN, 14(3), 1999, pp. 127-132
Authors:
Bardoni, B
Schenck, A
Mandel, JL
Citation: B. Bardoni et al., A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein, HUM MOL GEN, 8(13), 1999, pp. 2557-2566