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Items: 1 to 50 of 71

1.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.

JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.

2.

Muscle Membrane Serendipity conference : Past, Present, and Future Conference1 - 20-23 juillet 2017, Iowa City.

Allamand V.

Med Sci (Paris). 2017 Nov;33 Hors série n°1:67. doi: 10.1051/medsci/201733s116. Epub 2017 Nov 15. French. No abstract available.

PMID:
29139393
Free Article
3.

[NGS to the rescue of an atypical case of alphadystroglycanopathy with a LGMD phenotype].

Allamand V.

Med Sci (Paris). 2017 Nov;33 Hors série n°1:57. doi: 10.1051/medsci/201733s112. Epub 2017 Nov 15. French. No abstract available.

4.

Elevated Expression of Moesin in Muscular Dystrophies.

Pines M, Levi O, Genin O, Lavy A, Angelini C, Allamand V, Halevy O.

Am J Pathol. 2017 Mar;187(3):654-664. doi: 10.1016/j.ajpath.2016.11.013. Epub 2017 Jan 9.

PMID:
28082118
5.

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.

Guiraud S, Migeon T, Ferry A, Chen Z, Ouchelouche S, Verpont MC, Sado Y, Allamand V, Ronco P, Plaisier E.

Am J Pathol. 2017 Mar;187(3):505-516. doi: 10.1016/j.ajpath.2016.10.020. Epub 2017 Jan 3.

6.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelièvre A, Gartioux C, Allamand V, Piñol P, Garcia MA, Jiménez-Mallebriera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I, Díaz-Manera J.

J Neuromuscul Dis. 2016 May 27;3(2):267-274.

PMID:
27854213
7.

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A.

Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9.

PMID:
27008887
8.

212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.

Saunier M, Bönnemann CG, Durbeej M, Allamand V; CMD Animal Model Consortium.

Neuromuscul Disord. 2016 Mar;26(3):252-9. doi: 10.1016/j.nmd.2016.02.002. Epub 2016 Feb 15. No abstract available.

9.

Génétique.

Allamand V.

Med Sci (Paris). 2015 Nov;31 Spec No 3:28-9. doi: 10.1051/medsci/201531s307. Epub 2015 Nov 6. French. No abstract available.

10.

Two novel COLVI long chains in zebrafish that are essential for muscle development.

Ramanoudjame L, Rocancourt C, Lainé J, Klein A, Joassard L, Gartioux C, Fleury M, Lyphout L, Kabashi E, Ciura S, Cousin X, Allamand V.

Hum Mol Genet. 2015 Dec 1;24(23):6624-39. doi: 10.1093/hmg/ddv368. Epub 2015 Sep 11.

PMID:
26362255
11.

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Nelson I, Stojkovic T, Allamand V, Leturcq F, Bécane HM, Babuty D, Toutain A, Béroud C, Richard P, Romero NB, Eymard B, Ben Yaou R, Bonne G.

J Neuromuscul Dis. 2015 Sep 2;2(3):229-240.

12.

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.

Rau F, Lainé J, Ramanoudjame L, Ferry A, Arandel L, Delalande O, Jollet A, Dingli F, Lee KY, Peccate C, Lorain S, Kabashi E, Athanasopoulos T, Koo T, Loew D, Swanson MS, Le Rumeur E, Dickson G, Allamand V, Marie J, Furling D.

Nat Commun. 2015 May 28;6:7205. doi: 10.1038/ncomms8205.

13.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22.

PMID:
25535305
14.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

15.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB.

Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.

PMID:
25070542
16.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH.

Iran J Child Neurol. 2013 Summer;7(3):15-22.

17.

Diaphragmatic dysfunction in Collagen VI myopathies.

Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B.

Neuromuscul Disord. 2014 Feb;24(2):125-33. doi: 10.1016/j.nmd.2013.11.002. Epub 2013 Nov 16.

PMID:
24314752
18.

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response.

Allamand V, Beurrier P, Martin L, Malfait F, Syx D, DePaepe A.

Neuromuscul Disord. 2014 Jan;24(1):89. doi: 10.1016/j.nmd.2013.10.008. Epub 2013 Nov 6. No abstract available.

PMID:
24295814
19.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.

20.

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F.

Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12.

PMID:
23768946
21.

Sense from nonsense: therapies for premature stop codon diseases.

Bidou L, Allamand V, Rousset JP, Namy O.

Trends Mol Med. 2012 Nov;18(11):679-88. doi: 10.1016/j.molmed.2012.09.008. Epub 2012 Oct 17. Review.

PMID:
23083810
22.

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S137-47. doi: 10.1016/j.nmd.2012.06.347.

PMID:
22980765
23.

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P, Lescure A, Guicheney P, Allamand V.

J Mol Med (Berl). 2012 Oct;90(10):1095-107. doi: 10.1007/s00109-012-0896-x. Epub 2012 Apr 14. Review.

PMID:
22527882
24.

ColVI myopathies: where do we stand, where do we go?

Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G.

Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30.

25.

Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.

Carmignac V, Svensson M, Körner Z, Elowsson L, Matsumura C, Gawlik KI, Allamand V, Durbeej M.

Hum Mol Genet. 2011 Dec 15;20(24):4891-902. doi: 10.1093/hmg/ddr427. Epub 2011 Sep 14.

PMID:
21920942
26.

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.

Rederstorff M, Castets P, Arbogast S, Lainé J, Vassilopoulos S, Beuvin M, Dubourg O, Vignaud A, Ferry A, Krol A, Allamand V, Guicheney P, Ferreiro A, Lescure A.

PLoS One. 2011;6(8):e23094. doi: 10.1371/journal.pone.0023094. Epub 2011 Aug 8.

27.

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.

Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V.

Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.

PMID:
21131290
28.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
29.

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T.

Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23.

PMID:
20576434
30.

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.

Allamand V, Merlini L, Bushby K; Consortium for Collagen VI-Related Myopathies.

Neuromuscul Disord. 2010 May;20(5):346-54. doi: 10.1016/j.nmd.2010.02.012. Epub 2010 Mar 7. No abstract available.

PMID:
20211562
31.

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.

Castets P, Maugenre S, Gartioux C, Rederstorff M, Krol A, Lescure A, Tajbakhsh S, Allamand V, Guicheney P.

BMC Dev Biol. 2009 Aug 22;9:46. doi: 10.1186/1471-213X-9-46.

32.

Selenoprotein function and muscle disease.

Lescure A, Rederstorff M, Krol A, Guicheney P, Allamand V.

Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11. Review.

PMID:
19285112
33.

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

Maiti B, Arbogast S, Allamand V, Moyle MW, Anderson CB, Richard P, Guicheney P, Ferreiro A, Flanigan KM, Howard MT.

Hum Mutat. 2009 Mar;30(3):411-6. doi: 10.1002/humu.20879.

34.

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM.

Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16.

PMID:
19015158
35.

Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.

Häger M, Bigotti MG, Meszaros R, Carmignac V, Holmberg J, Allamand V, Akerlund M, Kalamajski S, Brancaccio A, Mayer U, Durbeej M.

J Biol Chem. 2008 Sep 5;283(36):24760-9. doi: 10.1074/jbc.M801166200. Epub 2008 Jul 7.

36.

First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle.

Sciandra F, Morlacchi S, Allamand V, De Benedetti G, Macchia G, Petrucci TC, Bozzi M, Brancaccio A.

Matrix Biol. 2008 May;27(4):360-70. doi: 10.1016/j.matbio.2007.12.003. Epub 2007 Dec 23.

PMID:
18249103
37.

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.

Allamand V, Bidou L, Arakawa M, Floquet C, Shiozuka M, Paturneau-Jouas M, Gartioux C, Butler-Browne GS, Mouly V, Rousset JP, Matsuda R, Ikeda D, Guicheney P.

J Gene Med. 2008 Feb;10(2):217-24.

PMID:
18074402
38.

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.

Rederstorff M, Allamand V, Guicheney P, Gartioux C, Richard P, Chaigne D, Krol A, Lescure A.

Nucleic Acids Res. 2008 Jan;36(1):237-44. Epub 2007 Nov 19.

39.

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P.

EMBO Rep. 2006 Apr;7(4):450-4. Epub 2006 Feb 24.

40.

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.

Neuropediatrics. 2004 Apr;35(2):103-12.

PMID:
15127309
41.

Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

Bidou L, Hatin I, Perez N, Allamand V, Panthier JJ, Rousset JP.

Gene Ther. 2004 Apr;11(7):619-27.

PMID:
14973546
42.

Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.

Durbeej M, Sawatzki SM, Barresi R, Schmainda KM, Allamand V, Michele DE, Campbell KP.

Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8910-5. Epub 2003 Jul 8.

43.

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.

Besse S, Allamand V, Vilquin JT, Li Z, Poirier C, Vignier N, Hori H, Guénet JL, Guicheney P.

Neuromuscul Disord. 2003 Mar;13(3):216-22.

PMID:
12609503
44.

Gamma 1 subunit interactions within the skeletal muscle L-type voltage-gated calcium channels.

Arikkath J, Chen CC, Ahern C, Allamand V, Flanagan JD, Coronado R, Gregg RG, Campbell KP.

J Biol Chem. 2003 Jan 10;278(2):1212-9. Epub 2002 Oct 29.

45.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.

Am J Hum Genet. 2002 Jun;70(6):1446-58. Epub 2002 Apr 24.

47.

Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy.

Straub V, Donahue KM, Allamand V, Davisson RL, Kim YR, Campbell KP.

Magn Reson Med. 2000 Oct;44(4):655-9.

48.

Animal models for muscular dystrophy: valuable tools for the development of therapies.

Allamand V, Campbell KP.

Hum Mol Genet. 2000 Oct;9(16):2459-67. Review.

PMID:
11005802
49.

Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice.

Allamand V, Donahue KM, Straub V, Davisson RL, Davidson BL, Campbell KP.

Gene Ther. 2000 Aug;7(16):1385-91.

50.

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.

Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP.

Mol Cell. 2000 Jan;5(1):141-51.

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