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Items: 1 to 50 of 154

1.

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.

Snanoudj S, Mordel P, Dupas Q, Schanen C, Arion A, Gérard M, Read MH, Nait Rabah D, Goux D, Chapon F, Jokic M, Allouche S.

Mol Genet Genomic Med. 2019 Aug;7(8):e815. doi: 10.1002/mgg3.815. Epub 2019 Jun 28.

2.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
3.

FSHD1 and FSHD2 form a disease continuum.

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM.

Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.

PMID:
30979860
4.

Isolated Cerebral Alveolar Echinococcosis.

Baldolli A, Bonhomme J, Yera H, Grenouillet F, Chapon F, Barbier C, Hazera P, Verdon R.

Open Forum Infect Dis. 2018 Dec 14;6(1):ofy349. doi: 10.1093/ofid/ofy349. eCollection 2019 Jan.

5.

[DM1 with severe fatigue: a cognitive behavioural therapy trial].

Chapon F.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:43. doi: 10.1051/medsci/201834s213. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418147
6.

Hippocampal Sparing During Craniospinal Irradiation: What Did We Learn About the Incidence of Perihippocampus Metastases?

Padovani L, Chapon F, André N, Boucekine M, Geoffray A, Bourdeau F, Masliah-Planchon J, Claude L, Huchet A, Laprie A, Supiot S, Coche-Dequéant B, Kerr C, Alapetite C, Leseur J, Nguyen T, Chapet S, Bernier V, Bondiau PY, Noel G, Habrand JL, Bolle S, Doz F, Dufour C, Muracciole X, Carrie C.

Int J Radiat Oncol Biol Phys. 2018 Mar 15;100(4):980-986. doi: 10.1016/j.ijrobp.2017.12.265. Epub 2017 Dec 21.

PMID:
29485078
7.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B.

Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.

PMID:
29437287
8.

A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.

Mordel P, Schaeffer S, Dupas Q, Laville MA, Gérard M, Chapon F, Allouche S.

Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):133-137. doi: 10.1016/j.bbrc.2017.10.066. Epub 2017 Oct 18.

PMID:
29054413
9.

MRI and surgical lumbosacral trunk positioning palsy.

Mathis S, Chapon F, Franques J.

Muscle Nerve. 2017 Oct;56(4):E36-E37. doi: 10.1002/mus.25703. Epub 2017 Jun 11. No abstract available.

PMID:
28556281
10.

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.

Labombarda F, Maurice M, Simon JP, Legallois D, Guyant-Maréchal L, Bedat-Millet AL, Merle P, Saloux E, Chapon F, Milliez P.

J Clin Neuromuscul Dis. 2017 Jun;18(4):199-206. doi: 10.1097/CND.0000000000000144.

PMID:
28538250
11.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N.

J Neuropathol Exp Neurol. 2017 Mar 1;76(3):195-205. doi: 10.1093/jnen/nlw124.

PMID:
28395088
12.

Teaching NeuroImages: Cranial nerve hypertrophy in IgG4 anti-neurofascin 155 antibody-positive polyneuropathy.

Franques J, Chapon F, Devaux J, Mathis S.

Neurology. 2017 Feb 14;88(7):e52. doi: 10.1212/WNL.0000000000003616. No abstract available.

PMID:
28193760
13.

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D.

Eur Heart J. 2017 Mar 7;38(10):751-758. doi: 10.1093/eurheartj/ehw569.

PMID:
27941019
15.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
16.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.

PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.

17.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T.

Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30.

PMID:
24789864
18.

PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.

Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, Hannequin D.

J Mol Neurosci. 2014 Jun;53(2):171-5. doi: 10.1007/s12031-014-0265-z. Epub 2014 Mar 7.

PMID:
24604296
19.

Cavernomas of the human brainstem: 3-dimensional reconstruction from histological slides using computerized techniques.

Toralba S, Landemore G, Coquemont M, Plancoulaine B, Chapon F.

Histol Histopathol. 2014 Aug;29(8):1071-6. doi: 10.14670/HH-29.1071. Epub 2014 Feb 26.

PMID:
24574040
20.

Author's reply to the comments "Benign notochordal cell tumour: biopsy not required".

Souteyrand P, Bouvier C, Zink JV, Chapon F, Marciano S, André M, Chagnaud C.

Diagn Interv Imaging. 2013 Nov;94(11):1183. doi: 10.1016/j.diii.2013.10.009. Epub 2013 Oct 25. No abstract available.

21.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.

Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.

PMID:
24095155
22.

Restless legs syndrome associated with exercise intolerance: Data from a retrospective observational clinical neuromuscular center study.

Simon JP, Debout C, Bertran F, Kerouanton A, Schaeffer S, Chapon F.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):663-9. doi: 10.1016/j.neurol.2013.05.001. Epub 2013 Sep 3.

PMID:
24011981
23.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3.

PMID:
24008051
24.

Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.

Périé S, Trollet C, Mouly V, Vanneaux V, Mamchaoui K, Bouazza B, Marolleau JP, Laforêt P, Chapon F, Eymard B, Butler-Browne G, Larghero J, St Guily JL.

Mol Ther. 2014 Jan;22(1):219-25. doi: 10.1038/mt.2013.155. Epub 2013 Jul 8.

25.

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Riant F, Bergametti F, Fournier HD, Chapon F, Michalak-Provost S, Cecillon M, Lejeune P, Hosseini H, Choe C, Orth M, Bernreuther C, Boulday G, Denier C, Labauge P, Tournier-Lasserve E.

Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3.

26.

EndMT contributes to the onset and progression of cerebral cavernous malformations.

Maddaluno L, Rudini N, Cuttano R, Bravi L, Giampietro C, Corada M, Ferrarini L, Orsenigo F, Papa E, Boulday G, Tournier-Lasserve E, Chapon F, Richichi C, Retta SF, Lampugnani MG, Dejana E.

Nature. 2013 Jun 27;498(7455):492-6. doi: 10.1038/nature12207. Epub 2013 Jun 9.

PMID:
23748444
27.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
28.

Benign notochordal cell tumour: case report.

Souteyrand P, Bouvier C, Zink JV, Chapon F, Marciano S, André M, Chagnaud C.

Diagn Interv Imaging. 2013 Apr;94(4):466-9. doi: 10.1016/j.diii.2013.01.008. Epub 2013 Mar 11. No abstract available.

29.

[Lewy body disease, a frequent dementia].

de la Sayette V, Viader F, Chapon F.

Bull Acad Natl Med. 2012 Feb;196(2):445-55; discussion 455-7. French.

PMID:
23420962
30.

Eosinophilic fasciitis with paroxysmal nocturnal hemoglobinuria.

de Boysson H, Chèze S, Chapon F, Le Mauff B, Auzary C, Geffray L.

Joint Bone Spine. 2013 Mar;80(2):208-10. doi: 10.1016/j.jbspin.2012.07.008. Epub 2012 Sep 19.

PMID:
22999899
31.

Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G, Chapon F.

Congenit Heart Dis. 2013 Jul-Aug;8(4):E127-9. doi: 10.1111/j.1747-0803.2012.00695.x. Epub 2012 Aug 7.

PMID:
22883396
32.

Blood metabolite data in response to maximal exercise in healthy subjects.

Mouadil A, Debout C, Read MH, Morello R, Allouche S, Chapon F.

Clin Physiol Funct Imaging. 2012 Jul;32(4):274-81. doi: 10.1111/j.1475-097X.2012.01122.x. Epub 2012 Feb 2.

PMID:
22681604
33.

O(6) -methylguanine-DNA methyltransferase (MGMT) promoter methylation and low MGMT-encoded protein expression as prognostic markers in glioblastoma patients treated with biodegradable carmustine wafer implants after initial surgery followed by radiotherapy with concomitant and adjuvant temozolomide.

Lechapt-Zalcman E, Levallet G, Dugué AE, Vital A, Diebold MD, Menei P, Colin P, Peruzzy P, Emery E, Bernaudin M, Chapon F, Guillamo JS.

Cancer. 2012 Sep 15;118(18):4545-54. doi: 10.1002/cncr.27441. Epub 2012 Feb 22.

34.

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.

Boulday G, Rudini N, Maddaluno L, Blécon A, Arnould M, Gaudric A, Chapon F, Adams RH, Dejana E, Tournier-Lasserve E.

J Exp Med. 2011 Aug 29;208(9):1835-47. doi: 10.1084/jem.20110571. Epub 2011 Aug 22.

35.

Is brain maturation comparable in fetuses and premature neonates at term equivalent age?

Viola A, Confort-Gouny S, Schneider JF, Le Fur Y, Viout P, Chapon F, Pineau S, Cozzone PJ, Girard N.

AJNR Am J Neuroradiol. 2011 Sep;32(8):1451-8. doi: 10.3174/ajnr.A2555. Epub 2011 Jul 14.

36.

Five-Year Longitudinal MRI Follow-up and (1)H Single Voxel MRS in 14 patients with Gliomatosis Treated with Temodal, Radiotherapy and Antiangiogenic Therapy.

Constans JM, Collet S, Kauffmann F, Hossu G, Dou W, Ruan S, Rioult F, Derlon JM, Lechapt-Zalcmann E, Chapon F, Valable S, Théron J, Guillamo JS, Courthéoux P.

Neuroradiol J. 2011 Jun 30;24(3):401-14. Epub 2011 Jun 24.

PMID:
24059663
37.

Utility of Ki67 immunostaining in the grading of pineal parenchymal tumours: a multicentre study.

Fèvre-Montange M, Vasiljevic A, Frappaz D, Champier J, Szathmari A, Aubriot Lorton MH, Chapon F, Coulon A, Quintin Roué I, Delisle MB, Figarella-Branger D, Laquerrière A, Miquel C, Michiels JF, Péoch M, Polivka M, Fauchon F, Jouvet A.

Neuropathol Appl Neurobiol. 2012 Feb;38(1):87-94. doi: 10.1111/j.1365-2990.2011.01202.x.

PMID:
21696422
38.

Lymphomatoid granulomatosis treated successfully with rituximab in a renal transplant patient.

Castrale C, El Haggan W, Chapon F, Reman O, Lobbedez T, Ryckelynck JP, Hurault de Ligny B.

J Transplant. 2011;2011:865957. doi: 10.1155/2011/865957. Epub 2011 Apr 19.

39.

[Subarachnoid hemorrhages form ruptured aneurysms as the presenting feature of lupus cerebral vasculitis].

Brah S, Thomas G, Chapon F, Franques J, Jourde N, Harlé JR, Durand JM, Jean R, Chiche L.

Rev Med Interne. 2012 Feb;33(2):e10-3. doi: 10.1016/j.revmed.2011.02.006. Epub 2011 Mar 8. French.

PMID:
21388720
40.

Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis.

Metellus P, Coulibaly B, Colin C, de Paula AM, Vasiljevic A, Taieb D, Barlier A, Boisselier B, Mokhtari K, Wang XW, Loundou A, Chapon F, Pineau S, Ouafik L, Chinot O, Figarella-Branger D.

Acta Neuropathol. 2010 Dec;120(6):719-29. doi: 10.1007/s00401-010-0777-8. Epub 2010 Nov 16.

PMID:
21080178
41.

New onset refractory convulsive status epilepticus associated with serum neuropil auto-antibodies in a school aged child.

Milh M, Villeneuve N, Chapon F, Gavaret M, Girard N, Mancini J, Chabrol B, Boucraut J.

Brain Dev. 2011 Sep;33(8):687-91. doi: 10.1016/j.braindev.2010.10.020. Epub 2010 Nov 13.

PMID:
21075572
42.

[Confusion in a 60-year-old man].

Chiche L, Mazodier K, Genot S, Barberet M, Pineau S, Chapon F, Bensa P, Fuentes S, Allègre T, Harlé JR, Kaplanski G, Seux V.

Rev Med Interne. 2010 Dec;31(12):867-71. doi: 10.1016/j.revmed.2010.09.013. Epub 2010 Oct 27. French. No abstract available.

PMID:
21030116
43.

Long-term clinicopathological observations on a papillary tumour of the pineal region.

Lechapt-Zalcman E, Chapon F, Guillamo JS, Khouri S, Menegalli-Boggelli D, Loussouarn D, Fevre-Montange M, Jouvet A.

Neuropathol Appl Neurobiol. 2011 Jun;37(4):431-5. doi: 10.1111/j.1365-2990.2010.01133.x. No abstract available.

PMID:
20942871
44.

[Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies].

Uro-Soste E, Fernandez C, Authier FJ, Bassez G, Butori C, Chapon F, Delisle MB, Dubourg O, Feasson L, Gherardi R, Lacroix C, Laquerriere A, Letournel F, Magy L, Maisonobe T, Marcorelles P, Maurage CA, Mezin P, Mussini JM, Penisson-Besnier I, Romero NB, Streichenberger N, Vallat JM, Viennet G, Vital A, Voit T, Boucharef W, Figarella-Branger D; Société française de myologie; Association française contre les myopathies.

Rev Neurol (Paris). 2010 May;166(5):477-85. French. No abstract available.

PMID:
20626090
45.

CCM1 regulates vascular-lumen organization by inducing endothelial polarity.

Lampugnani MG, Orsenigo F, Rudini N, Maddaluno L, Boulday G, Chapon F, Dejana E.

J Cell Sci. 2010 Apr 1;123(Pt 7):1073-80. doi: 10.1242/jcs.059329.

46.

Internal carotid artery dissection occurring during intensive practice with Wii video sports games.

Faivre A, Chapon F, Combaz X, Nicoli F.

Neurology. 2009 Oct 13;73(15):1242-3. doi: 10.1212/WNL.0b013e3181bc0172. No abstract available.

PMID:
19822875
47.

Fetal magnetic resonance imaging of acquired and developmental brain anomalies.

Girard N, Chaumoitre K, Chapon F, Pineau S, Barberet M, Brunel H.

Semin Perinatol. 2009 Aug;33(4):234-50. doi: 10.1053/j.semperi.2009.04.007.

PMID:
19631084
48.

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.

Sacconi S, Simkin D, Arrighi N, Chapon F, Larroque MM, Vicart S, Sternberg D, Fontaine B, Barhanin J, Desnuelle C, Bendahhou S.

Am J Physiol Cell Physiol. 2009 Oct;297(4):C876-85. doi: 10.1152/ajpcell.00519.2008. Epub 2009 Jul 1.

49.

Expression profiling of ependymomas unravels localization and tumor grade-specific tumorigenesis.

Palm T, Figarella-Branger D, Chapon F, Lacroix C, Gray F, Scaravilli F, Ellison DW, Salmon I, Vikkula M, Godfraind C.

Cancer. 2009 Sep 1;115(17):3955-68. doi: 10.1002/cncr.24476.

50.

Transient brain magnetic resonance imaging hyperintensity in basal ganglia and brain stem of epileptic infants treated with vigabatrin.

Milh M, Villeneuve N, Chapon F, Pineau S, Lamoureux S, Livet MO, Bartoli C, Hugonenq C, Mancini J, Chabrol B, Girard N.

J Child Neurol. 2009 Mar;24(3):305-15. doi: 10.1177/0883073808324219.

PMID:
19258289

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