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Items: 1 to 50 of 82

1.

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
2.

Atypical nuclear abnormalities in a patient with Brody disease.

Mussini JM, Magot A, Hantaï D, Sternberg D, Chevessier F, Péréon Y.

Neuromuscul Disord. 2015 Oct;25(10):773-9. doi: 10.1016/j.nmd.2015.07.005. Epub 2015 Jul 13.

PMID:
26248958
3.

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.

4.

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
5.

[Congenital myasthenic syndromes; French experience].

Eymard B, Hantaï D, Fournier E, Nicole S, Sternberg D, Richard P, Fardeau M.

Bull Acad Natl Med. 2014 Feb;198(2):257-70; discussion 270-1. Review. French.

PMID:
26263703
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.

Congenital myasthenic syndromes: an update.

Hantaï D, Nicole S, Eymard B.

Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. Review.

PMID:
23995276
8.

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
9.

Congenital myasthenic syndromes.

Eymard B, Hantaï D, Estournet B.

Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Review.

PMID:
23622369
10.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Review. French.

PMID:
23452772
11.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J.

Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17.

12.

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.

13.

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Chaouch A, Beeson D, Hantaï D, Lochmüller H.

Neuromuscul Disord. 2012 Jun;22(6):566-76. doi: 10.1016/j.nmd.2011.12.004. Epub 2012 Jan 9. No abstract available.

PMID:
22230109
14.

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
15.

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.

16.

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
17.

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.

18.

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.

19.

Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

Outteryck O, Richard P, Lacour A, Fournier E, Zéphir H, Gaudon K, Eymard B, Hantaï D, Vermersch P, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):450-1. doi: 10.1136/jnnp.2008.148189. No abstract available.

PMID:
19289485
20.

[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
21.

[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
22.

[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
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.

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Méjat A, Decostre V, Li J, Renou L, Kesari A, Hantaï D, Stewart CL, Xiao X, Hoffman E, Bonne G, Misteli T.

J Cell Biol. 2009 Jan 12;184(1):31-44. doi: 10.1083/jcb.200811035. Epub 2009 Jan 5.

25.

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
26.

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

Chevessier F, Girard E, Molgó J, Bartling S, Koenig J, Hantaï D, Witzemann V.

Hum Mol Genet. 2008 Nov 15;17(22):3577-95. doi: 10.1093/hmg/ddn251. Epub 2008 Aug 21.

PMID:
18718936
27.

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
28.

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
29.

The origin of tubular aggregates in human myopathies.

Chevessier F, Bauché-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantaï D, Verdière-Sahuqué M.

J Pathol. 2005 Nov;207(3):313-23.

PMID:
16178054
30.

[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
31.

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D, Hantaï D, Lochmüller H, Engel AG.

Neuromuscul Disord. 2005 Jul;15(7):498-512. No abstract available.

PMID:
15951177
32.

Increased thrombin inhibition in experimental autoimmune encephalomyelitis.

Beilin O, Karussis DM, Korczyn AD, Gurwitz D, Aronovich R, Hantai D, Grigoriadis N, Mizrachi-Kol R, Chapman J.

J Neurosci Res. 2005 Feb 1;79(3):351-9.

PMID:
15605378
33.

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
34.

Congenital myasthenic syndromes.

Hantaï D, Richard P, Koenig J, Eymard B.

Curr Opin Neurol. 2004 Oct;17(5):539-51. Review.

PMID:
15367858
35.

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B.

Neuropediatrics. 2004 Aug;35(4):246-9.

PMID:
15328566
36.

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, Lochmüller H.

J Med Genet. 2004 Aug;41(8):e104. No abstract available.

37.

[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
38.

Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro.

Faraut B, Ravel-Chapuis A, Bonavaud S, Jandrot-Perrus M, Verdière-Sahuqué M, Schaeffer L, Koenig J, Hantaï D.

Eur J Neurosci. 2004 Apr;19(8):2099-108.

PMID:
15090037
39.

Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging.

Chevessier F, Marty I, Paturneau-Jouas M, Hantaï D, Verdière-Sahuqué M.

Neuromuscul Disord. 2004 Mar;14(3):208-16.

PMID:
15036331
40.

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Andreux F, Hantaï D, Eymard B.

Rev Neurol (Paris). 2004 Feb;160(2):163-76. Review. French.

PMID:
15034473
41.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2004 Jan;14(1):24-32.

PMID:
14659409
42.

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.

43.

Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1.

Faraut B, Barbier J, Ravel-Chapuis A, Doyennette MA, Jandrot-Perrus M, Verdière-Sahuqué M, Schaeffer L, Koenig J, Hantaï D.

J Cell Physiol. 2003 Jul;196(1):105-12.

PMID:
12767046
44.

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.

Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2003 Mar;13(3):236-44.

PMID:
12609505
45.

Expression of the thrombin receptor (PAR-1) during rat skeletal muscle differentiation.

Chevessier F, Hantaï D, Verdière-Sahuqué M.

J Cell Physiol. 2001 Nov;189(2):152-61.

PMID:
11598900
46.

Thrombin receptor induction by injury-related factors in human skeletal muscle cells.

Mbebi C, Rohn T, Doyennette MA, Chevessier F, Jandrot-Perrus M, Hantaï D, Verdière-Sahuqué M.

Exp Cell Res. 2001 Feb 1;263(1):77-87.

PMID:
11161707
47.

Developmental regulation of amyloid precursor protein at the neuromuscular junction in mouse skeletal muscle.

Akaaboune M, Allinquant B, Farza H, Roy K, Magoul R, Fiszman M, Festoff BW, Hantaï D.

Mol Cell Neurosci. 2000 Apr;15(4):355-67.

PMID:
10845772
49.

Protease nexin I expression is up-regulated in human skeletal muscle by injury-related factors.

Mbebi C, Hantaï D, Jandrot-Perrus M, Doyennette MA, Verdière-Sahuqué M.

J Cell Physiol. 1999 Jun;179(3):305-14.

PMID:
10228949
50.

Ultrastructural localization of cellular prion protein (PrPc) at the neuromuscular junction.

Gohel C, Grigoriev V, Escaig-Haye F, Lasmézas CI, Deslys JP, Langeveld J, Akaaboune M, Hantaï D, Fournier JG.

J Neurosci Res. 1999 Jan 15;55(2):261-7.

PMID:
9972829

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