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Items: 43

1.

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero NB, Taratuto AL.

J Neurol. 2019 Oct;266(10):2524-2534. doi: 10.1007/s00415-019-09437-3. Epub 2019 Jul 2.

PMID:
31267206
2.

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB.

Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5.

3.

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.

Franck A, Lainé J, Moulay G, Lemerle E, Trichet M, Gentil C, Benkhelifa-Ziyyat S, Lacène E, Bui MT, Brochier G, Guicheney P, Romero N, Bitoun M, Vassilopoulos S.

Mol Biol Cell. 2019 Mar 1;30(5):579-590. doi: 10.1091/mbc.E18-11-0718. Epub 2019 Jan 2.

4.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
5.

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.

Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J.

J Med Genet. 2019 Sep;56(9):617-621. doi: 10.1136/jmedgenet-2018-105390. Epub 2018 Oct 16.

PMID:
30327447
6.

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G.

Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. No abstract available.

7.

Predictors of red blood cell transfusion and its association with prognosis in patients undergoing extracorporeal membrane oxygenation.

Lo Pinto H, Allyn J, Persichini R, Bouchet B, Brochier G, Martinet O, Brulliard C, Valance D, Delmas B, Braunberger E, Dangers L, Allou N.

Int J Artif Organs. 2018 Oct;41(10):644-652. doi: 10.1177/0391398818785132. Epub 2018 Jul 12.

PMID:
29998775
8.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD, Corazzini R, Papadopoulos K, Behin A, Laforêt P, Stojkovic T, Eymard B, Fardeau M, Romero N.

Genet Test Mol Biomarkers. 2018 Jun;22(6):374-383. doi: 10.1089/gtmb.2018.0004.

PMID:
29924655
9.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

10.

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
11.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
12.

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

Garibaldi M, Fattori F, Riva B, Labasse C, Brochier G, Ottaviani P, Sacconi S, Vizzaccaro E, Laschena F, Romero NB, Genazzani A, Bertini E, Antonini G.

Clin Genet. 2017 May;91(5):780-786. doi: 10.1111/cge.12888. Epub 2016 Nov 23.

PMID:
27882542
13.

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.

14.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.

Richard P, Trollet C, Gidaro T, Demay L, Brochier G, Malfatti E, Tom FM, Fardeau M, Lafor P, Romero N, Martin-N ML, Sol G, Ferrer-Monasterio X, Saint-Guily JL, Eymard B.

J Neuromuscul Dis. 2015 Jun 4;2(2):175-180.

15.

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.

16.

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
17.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB.

J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506.

18.

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.

Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.

PMID:
23266647
19.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB.

Eur J Med Genet. 2011 Jan-Feb;54(1):29-33. doi: 10.1016/j.ejmg.2010.09.009. Epub 2010 Oct 1.

PMID:
20888934
20.

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.

Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P.

Neuromuscul Disord. 2010 Nov;20(11):701-8. doi: 10.1016/j.nmd.2010.06.006. Epub 2010 Jul 15.

PMID:
20637616
21.

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

Claeys KG, Maisonobe T, Böhm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T.

Neurology. 2010 Feb 9;74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9. No abstract available.

PMID:
20142620
22.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
23.

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H.

Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.

PMID:
19047562
24.

Soman-induced convulsions: the neuropathology revisited.

Baille V, Clarke PG, Brochier G, Dorandeu F, Verna JM, Four E, Lallement G, Carpentier P.

Toxicology. 2005 Nov 5;215(1-2):1-24. Epub 2005 Jul 28.

PMID:
16054742
25.

Early changes in MAP2 protein in the rat hippocampus following soman intoxication.

Lallement G, Masqueliez C, Baubichon D, Foquin A, Brochier G, Dorandeu F.

Drug Chem Toxicol. 2003 Nov;26(4):219-29.

PMID:
14582377
26.

Joint participation of mitochondria and sarcoplasmic reticulum in the formation of tubular aggregates in gastrocnemius muscle of CK-/- mice.

Novotová M, Zahradník I, Brochier G, Pavlovicová M, Bigard X, Ventura-Clapier R.

Eur J Cell Biol. 2002 Feb;81(2):101-6.

PMID:
11893080
27.

Study on the pathophysiology of experimental Burkholderia pseudomallei infection in mice.

Gauthier YP, Hagen RM, Brochier GS, Neubauer H, Splettstoesser WD, Finke EJ, Vidal DR.

FEMS Immunol Med Microbiol. 2001 Feb;30(1):53-63.

28.
29.

Intravenous immunoglobulin therapy: confounding effects on serological screening for toxoplasmosis during pregnancy.

Pelloux H, Fricker-Hidalgo H, Brochier G, Goullier-Fleuret A, Ambroise-Thomas P.

J Clin Microbiol. 1999 Oct;37(10):3423-4.

30.

Efficacy of atropine/pralidoxime/diazepam or atropine/HI-6/prodiazepam in primates intoxicated by soman.

Lallement G, Clarencon D, Brochier G, Baubichon D, Galonnier M, Blanchet G, Mestries JC.

Pharmacol Biochem Behav. 1997 Feb;56(2):325-32.

PMID:
9050092
31.

GK 11: promising additional neuroprotective therapy for organophosphate poisoning.

Lallement G, Mestries JC, Privat A, Brochier G, Baubichon D, Carpentier P, Kamenka JM, Sentenac-Roumanou H, Burckhart MF, Peoc'h M.

Neurotoxicology. 1997;18(3):851-6.

PMID:
9339831
32.

Early regional changes of GFAP mRNA in rat hippocampus and dentate gyrus during soman-induced seizures.

Baille-Le Crom V, Collombet JM, Carpentier P, Brochier G, Burckhart MF, Foquin A, Pernot-Marino I, Rondouin G, Lallement G.

Neuroreport. 1995 Dec 29;7(1):365-9.

PMID:
8742489
33.
36.

Calcium-induced acetylcholine release and intramembrane particle occurrence in proteoliposomes equipped with mediatophore.

Brochier G, Gulik-Krzywicki T, Lesbats B, Dedieu JC, Israël M.

Biol Cell. 1992;74(2):225-30.

PMID:
1596642
37.

Immunological identification of a new 14X10(3) Mr membrane-bound protein in Torpedo electric organ.

Morel N, Brochier G, Synguelakis M, Le Gal La Salle G.

J Cell Sci. 1991 Mar;98 ( Pt 3):351-61.

38.

[Comparison of synaptic vesicles of neuromuscular and nerve electroplaque junctions in Torpedo marmorata].

Brochier G, Israel M, Lesbats B.

C R Acad Sci III. 1991;313(12):573-8. French.

PMID:
1773361
40.

A potential new procedure for removing anti-factor VIII antibodies from hemophilic plasma.

Regnault V, Rivat C, Vallet JP, Francois-Gerard C, Brochier G, Allain JP.

Thromb Res. 1987 Jan 1;45(1):51-7.

PMID:
3105113
41.

Hemophilic patients with an inhibitor to factor VIII treated with high dose factor VIII concentrate. Results of a collaborative study for the evaluation of factor VIII inhibitor titer, recovery and half life of infused factor VIII.

Sultan Y, White GC, Aronstam A, Bosser C, Brackmann HH, Brochier G, Gormsen J, Mariani G, Roberts HR, Scarabin Y, et al.

Nouv Rev Fr Hematol. 1986;28(2):85-9.

PMID:
3090516
42.

[Immunological study of a hemophiliac treated according to the Bonn protocol for 2 1/2 years].

Eyquem A, Noël L, Bosser C, Brochier G.

Rev Fr Transfus Immunohematol. 1984 Sep;27(4):487-91. French.

PMID:
6438769
43.

Failure in oral treatment of hemophilia by Huang-lien-chieh-tu-tang (plant extract), one of the kanpo medicines.

Brochier G, Bosser C, Noel L.

Haemostasis. 1984;14(6):508-9. No abstract available.

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