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Items: 33

1.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C.

J Neuromuscul Dis. 2017;4(4):269-284. doi: 10.3233/JND-170257. Review.

2.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.

PMID:
28712002
3.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.

Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.

4.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Bruneteau G, Bauché S, Gonzalez de Aguilar JL, Brochier G, Mandjee N, Tanguy ML, Hussain G, Behin A, Khiami F, Sariali E, Hell-Remy C, Salachas F, Pradat PF, Lacomblez L, Nicole S, Fontaine B, Fardeau M, Loeffler JP, Meininger V, Fournier E, Koenig J, Hantaï D.

Ann Clin Transl Neurol. 2015 Apr;2(4):362-72. doi: 10.1002/acn3.179. Epub 2015 Feb 16.

5.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
6.

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Bauché S, Boerio D, Davoine CS, Bernard V, Stum M, Bureau C, Fardeau M, Romero NB, Fontaine B, Koenig J, Hantaï D, Gueguen A, Fournier E, Eymard B, Nicole S.

Neuromuscul Disord. 2013 Dec;23(12):998-1009. doi: 10.1016/j.nmd.2013.07.005. Epub 2013 Sep 4. Erratum in: Neuromuscul Disord. 2014 Apr;24(4):371.

PMID:
24011702
7.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

Bruneteau G, Simonet T, Bauché S, Mandjee N, Malfatti E, Girard E, Tanguy ML, Behin A, Khiami F, Sariali E, Hell-Remy C, Salachas F, Pradat PF, Fournier E, Lacomblez L, Koenig J, Romero NB, Fontaine B, Meininger V, Schaeffer L, Hantaï D.

Brain. 2013 Aug;136(Pt 8):2359-68. doi: 10.1093/brain/awt164. Epub 2013 Jul 3.

PMID:
23824486
8.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D.

PLoS One. 2013;8(1):e53826. doi: 10.1371/journal.pone.0053826. Epub 2013 Jan 9. Erratum in: PLoS One. 2013;8(9). doi: 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f.

9.

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, Lebail A, Bauche S, Hantaï D, Fournier E, Eymard B, Stojkovic T.

Neuromuscul Disord. 2012 Apr;22(4):318-24. doi: 10.1016/j.nmd.2011.09.002. Epub 2011 Nov 15.

PMID:
22088788
10.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.

Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P.

J Med Genet. 2010 Dec;47(12):795-6. doi: 10.1136/jmg.2010.081034. Epub 2010 Oct 7.

11.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B.

J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.

PMID:
20012313
12.

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy.

Risson V, Mazelin L, Roceri M, Sanchez H, Moncollin V, Corneloup C, Richard-Bulteau H, Vignaud A, Baas D, Defour A, Freyssenet D, Tanti JF, Le-Marchand-Brustel Y, Ferrier B, Conjard-Duplany A, Romanino K, Bauché S, Hantaï D, Mueller M, Kozma SC, Thomas G, Rüegg MA, Ferry A, Pende M, Bigard X, Koulmann N, Schaeffer L, Gangloff YG.

J Cell Biol. 2009 Dec 14;187(6):859-74. doi: 10.1083/jcb.200903131.

13.

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D.

Am J Hum Genet. 2009 Aug;85(2):155-67. doi: 10.1016/j.ajhg.2009.06.015. Epub 2009 Jul 23. Erratum in: Am J Hum Genet. 2009 Oct;85(4):536.

14.

[Anatomy and physiology of the peripheral nerve].

Rigoard P, Buffenoir K, Wager M, Bauche S, Giot JP, Robert R, Lapierre F.

Neurochirurgie. 2009 Mar;55 Suppl 1:S3-12. doi: 10.1016/j.neuchi.2008.03.009. Epub 2009 Feb 23. Review. French.

PMID:
19233440
15.

[Morphological study of CNS lesions and the consequences on rat neuromuscular junction and peripheral nerve using confocal laser scanning microscopy and Koelle's technique].

Rigoard P, Buffenoir K, Chaillou M, Fares M, Da Costa L, Boildieu N, Seguin F, Lapierre F, Maixent JM, Bauche S, Koenig J, Hantaï D.

Neurochirurgie. 2009 Mar;55 Suppl 1:S110-23. doi: 10.1016/j.neuchi.2008.05.009. Epub 2009 Feb 23. French.

PMID:
19233439
16.

[Molecular architecture of the sarcoplasmic reticulum and its role in the ECC].

Rigoard P, Buffenoir K, Wager M, Bauche S, Giot JP, Lapierre F.

Neurochirurgie. 2009 Mar;55 Suppl 1:S83-91. doi: 10.1016/j.neuchi.2008.05.007. Epub 2009 Feb 23. Review. French.

PMID:
19233437
17.

[Structural and molecular organization, development and maturation of the neuromuscular junction].

Rigoard P, Buffenoir K, Bauche S, Giot JP, Koenig J, Hantaï D, Lapierre F, Wager M.

Neurochirurgie. 2009 Mar;55 Suppl 1:S34-42. doi: 10.1016/j.neuchi.2008.03.012. Epub 2009 Feb 23. Review. French.

PMID:
19233436
18.

[Tools and techniques dedicated to neuromuscular junction observation].

Rigoard P, Buffenoir K, Bauche S, Fares M, Koenig J, Hantaï D, Giot JP, Seguin F, Huze C, Schaeffer L, Maixent JM.

Neurochirurgie. 2009 Mar;55 Suppl 1:S43-8. doi: 10.1016/j.neuchi.2008.03.013. Epub 2009 Feb 18. Review. French.

PMID:
19232651
19.

[Pathophysiological, molecular and metabolic changes at the neuromuscular junction and the peripheral nerve after central nervous system lesions in humans].

Rigoard P, Bauche S, Buffenoir K, Da Costa L, Boildieu N, Seguin F, Koenig J, Lapierre F, Maixent JM.

Neurochirurgie. 2009 Mar;55 Suppl 1:S135-47. doi: 10.1016/j.neuchi.2008.05.011. Epub 2009 Feb 18. French.

PMID:
19232650
20.

[Major mechanisms involved in the synaptic transmission of the neuromuscular apparatus].

Rigoard S, Wager M, Buffenoir K, Bauche S, Giot JP, Maixent JM, Rigoard P.

Neurochirurgie. 2009 Mar;55 Suppl 1:S22-33. doi: 10.1016/j.neuchi.2008.03.011. Epub 2009 Feb 20. Review. French.

PMID:
19230941
21.

[Synapse formation and regeneration].

d'Houtaud S, Sztermer E, Buffenoir K, Giot JP, Wager M, Bauche S, Lapierre F, Rigoard P.

Neurochirurgie. 2009 Mar;55 Suppl 1:S49-62. doi: 10.1016/j.neuchi.2008.03.014. Epub 2009 Feb 20. Review. French.

PMID:
19230939
22.

[The anatomical substrate of muscle contractility].

Rigoard P, Bauche S, Buffenoir K, Giot JP, Faure JP, Scepi M, Richer JP, Lapierre F, Wager M.

Neurochirurgie. 2009 Mar;55 Suppl 1:S69-82. doi: 10.1016/j.neuchi.2008.05.006. Epub 2009 Feb 14. Review. French.

PMID:
19223044
23.

[Experimental and pathological changes of the neuromuscular junction].

Koenig J, Bauché S, Ben Ammar A, Nicolle D, Rigoard P, Eymard B, Hantaï D.

Neurochirurgie. 2009 Mar;55 Suppl 1:S104-9. doi: 10.1016/j.neuchi.2008.05.008. Epub 2009 Feb 10. Review. French.

PMID:
19211115
24.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877
25.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.

Neuromuscul Disord. 2007 May;17(5):409-14. Epub 2007 Mar 23.

PMID:
17363247
26.

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

Acta Myol. 2005 Oct;24(2):55-9.

PMID:
16550915
27.

[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

J Soc Biol. 2005;199(1):61-77. French.

PMID:
16114265
28.

MUSK, a new target for mutations causing congenital myasthenic syndrome.

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

Hum Mol Genet. 2004 Dec 15;13(24):3229-40. Epub 2004 Oct 20.

PMID:
15496425
29.

[Congenital myasthenic syndromes due to mutations in the rapsyn gene].

Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy JP, Koenig J, Richard P, Hantaï D.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S78-84. Review. French.

PMID:
15269664
30.

Multicenter linkage study of schizophrenia loci on chromosome 22q.

Mowry BJ, Holmans PA, Pulver AE, Gejman PV, Riley B, Williams NM, Laurent C, Schwab SG, Wildenauer DB, Bauché S, Owen MJ, Wormley B, Sanders AR, Nestadt G, Liang KY, Duan J, Ribble R, Norton N, Soubigou S, Maier W, Ewen-White KR, DeMarchi N, Carpenter B, Walsh D, Williams H, Jay M, Albus M, Nertney DA, Papadimitriou G, O'Neill A, O'Donovan MC, Deleuze JF, Lerer FB, Dikeos D, Kendler KS, Mallet J, Silverman JM, Crowe RR, Levinson DF.

Mol Psychiatry. 2004 Aug;9(8):784-95.

PMID:
15007391
31.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D.

J Med Genet. 2003 Jun;40(6):e81. No abstract available.

32.

CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia.

Laurent C, Niehaus D, Bauché S, Levinson DF, Soubigou S, Pimstone S, Hayden M, Mbanga I, Emsley R, Deleuze JF, Mallet J.

Am J Med Genet B Neuropsychiatr Genet. 2003 Jan 1;116B(1):45-50.

PMID:
12497613
33.

No major schizophrenia locus detected on chromosome 1q in a large multicenter sample.

Levinson DF, Holmans PA, Laurent C, Riley B, Pulver AE, Gejman PV, Schwab SG, Williams NM, Owen MJ, Wildenauer DB, Sanders AR, Nestadt G, Mowry BJ, Wormley B, Bauché S, Soubigou S, Ribble R, Nertney DA, Liang KY, Martinolich L, Maier W, Norton N, Williams H, Albus M, Carpenter EB, DeMarchi N, Ewen-White KR, Walsh D, Jay M, Deleuze JF, O'Neill FA, Papadimitriou G, Weilbaecher A, Lerer B, O'Donovan MC, Dikeos D, Silverman JM, Kendler KS, Mallet J, Crowe RR, Walters M.

Science. 2002 Apr 26;296(5568):739-41.

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