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Items: 1 to 20 of 141

1.

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
2.

Fatal familial insomnia: a video-polysomnographic case report.

Megelin T, Thomas B, Ferrer X, Ghorayeb I.

Sleep Med. 2017 May;33:165-166. doi: 10.1016/j.sleep.2017.02.015. Epub 2017 Mar 10. No abstract available.

PMID:
28449898
3.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M.

J Neuromuscul Dis. 2016 May 27;3(2):227-245.

PMID:
27854212
4.

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.

5.

Cocaine addiction is associated with abnormal prefrontal function, increased striatal connectivity and sensitivity to monetary incentives, and decreased connectivity outside the human reward circuit.

Vaquero L, Cámara E, Sampedro F, Pérez de Los Cobos J, Batlle F, Fabregas JM, Sales JA, Cervantes M, Ferrer X, Lazcano G, Rodríguez-Fornells A, Riba J.

Addict Biol. 2017 May;22(3):844-856. doi: 10.1111/adb.12356. Epub 2016 Jan 19.

PMID:
26786150
6.

Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON).

Vital C, Julien J, Martin-Negrier ML, Lagueny A, Ferrer X, Vital A.

Rev Neurol (Paris). 2015 Sep;171(8-9):679-80. doi: 10.1016/j.neurol.2015.03.011. Epub 2015 Apr 24. Review. No abstract available.

PMID:
25917160
7.

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Mercier S, Magot A, Caillon F, Isidor B, David A, Ferrer X, Vital A, Coquet M, Penttilä S, Udd B, Mussini JM, Pereon Y.

Muscle Nerve. 2015 Oct;52(4):673-80. doi: 10.1002/mus.24664. Epub 2015 Jun 3.

PMID:
25809233
8.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S.

Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1.

9.

Systemic capillary leak syndrome in an 85-year-old man (Clarkson's syndrome).

Bouchet JL, Vital C, Ferrer X, Vital A.

Rev Neurol (Paris). 2014 Nov;170(11):713-4. doi: 10.1016/j.neurol.2014.05.010. Epub 2014 Oct 5. No abstract available.

PMID:
25287734
10.

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.

Allenbach Y, Drouot L, Rigolet A, Charuel JL, Jouen F, Romero NB, Maisonobe T, Dubourg O, Behin A, Laforet P, Stojkovic T, Eymard B, Costedoat-Chalumeau N, Campana-Salort E, Tournadre A, Musset L, Bader-Meunier B, Kone-Paut I, Sibilia J, Servais L, Fain O, Larroche C, Diot E, Terrier B, De Paz R, Dossier A, Menard D, Morati C, Roux M, Ferrer X, Martinet J, Besnard S, Bellance R, Cacoub P, Arnaud L, Grosbois B, Herson S, Boyer O, Benveniste O; French Myositis Network.

Medicine (Baltimore). 2014 May;93(3):150-7. doi: 10.1097/MD.0000000000000028.

11.

Comparison of two HIV testing strategies in primary care centres: indicator-condition-guided testing vs. testing of those with non-indicator conditions.

Menacho I, Sequeira E, Muns M, Barba O, Leal L, Clusa T, Fernandez E, Moreno L, Raben D, Lundgren J, Gatell JM, Garcia F, Cayuelas L, Aragunde V, Vergara M, Catalan M, Moreno MA, Hormigo G, Siso A, Herreras Z, Sebastian L, Benito L, Picas A, Hoyo J, Giner MJ, Cararach D, Moles E, Moro ML, Arrabal P, Roca D, Prego S, Ferrer X, Egido A, Ventosa C, Garcia S, Muñoz S, Massana A, Sole J, Curiel M, Heras F, Leon A.

HIV Med. 2013 Oct;14 Suppl 3:33-7. doi: 10.1111/hiv.12064.

12.

[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. French.

PMID:
24011642
13.

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

Vital A, Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C.

J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028.

PMID:
23781966
14.

Seabird aggregative patterns: a new tool for offshore wind energy risk assessment.

Christel I, Certain G, Cama A, Vieites DR, Ferrer X.

Mar Pollut Bull. 2013 Jan 15;66(1-2):84-91. doi: 10.1016/j.marpolbul.2012.11.005. Epub 2012 Dec 1.

PMID:
23212000
15.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

16.

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.

Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28.

PMID:
22546700
17.

Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy.

Sole G, Casenave P, Vital C, Misrahi M, Ferrer X, Vital A.

J Peripher Nerv Syst. 2012 Mar;17(1):138-9. doi: 10.1111/j.1529-8027.2012.00385.x. No abstract available.

PMID:
22462677
18.

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.

Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hébert JL, Ferrer X, Maugenre S, Schmitz W, Kirchhefer U, Schulze-Bahr E, Guicheney P, Schulze-Bahr E.

Hum Mutat. 2012 Jan;33(1):109-17. doi: 10.1002/humu.21599. Epub 2011 Oct 20.

PMID:
21887725
19.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A.

Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Review.

PMID:
20880070
20.

Teaching neuroimages: reversible ectropion in myasthenia gravis.

Chang GY, Solé G, Ferrer X.

Neurology. 2010 Apr 13;74(15):1239; author reply 1239. doi: 10.1212/WNL.0b013e3181d2b88f. No abstract available.

PMID:
20385900

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