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Items: 1 to 20 of 161

1.

[Multidisciplinary Concertation Meetings (RCP): objectives and operating procedures].

Solé G.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:23-25. doi: 10.1051/medsci/201834s207. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418141
2.

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group.

J Inherit Metab Dis. 2018 Aug 28. doi: 10.1007/s10545-018-0243-7. [Epub ahead of print]

PMID:
30155607
3.

Focal neurogenic muscle hypertrophy and fasciculations In.

Šinkūnaitė L, Burbaud P, Soulages A, Vergnet S, Duval F, Solé G, Tang HM, Le Masson G, Mathis S.

Muscle Nerve. 2018 Aug 27. doi: 10.1002/mus.26185. [Epub ahead of print] No abstract available.

PMID:
30152094
4.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C.

Eur J Med Genet. 2018 Aug 22. pii: S1769-7212(18)30335-5. doi: 10.1016/j.ejmg.2018.08.011. [Epub ahead of print]

PMID:
30142438
5.

Some new proposals for the classification of inherited myopathies.

Mathis S, Tazir M, Solé G, Magy L, Le Masson G, Couratier P, Ghorab K, Duval F, Lacoste I, Goizet C, Vallat JM.

J Neurol Sci. 2018 Aug 15;391:118-119. doi: 10.1016/j.jns.2018.06.014. Epub 2018 Jun 19. No abstract available.

PMID:
30103959
6.

The accessibility of fitness centers for people with disabilities: A systematic review.

Calder A, Sole G, Mulligan H.

Disabil Health J. 2018 Oct;11(4):525-536. doi: 10.1016/j.dhjo.2018.04.002. Epub 2018 May 24.

PMID:
29936142
7.

Value of nerve biopsy in the management of peripheral neuropathies.

Mathis S, Magy L, Le Masson G, Richard L, Soulages A, Solé G, Duval F, Ghorab K, Vallat JM, Duchesne M.

Expert Rev Neurother. 2018 Jul;18(7):589-602. doi: 10.1080/14737175.2018.1489240. Epub 2018 Jun 25.

PMID:
29923431
8.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21.

PMID:
29792937
9.

Clinical course of pain and disability in patients with subacromial shoulder pain: a systematic review protocol.

Tangrood ZJ, Gisselman AS, Sole G, Ribeiro DC.

BMJ Open. 2018 May 9;8(5):e019393. doi: 10.1136/bmjopen-2017-019393.

10.

Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.

Hachulla E, Le Masson G, Solé G, Hamidou M, Desnuelle C, Azulay JP, Besson G, Swiader L, Abad S, Antoine JC, Bouhour F, Créange A, Grenouillet M, Magy L, Marcel S, Paquet JM, Rouhart F, Ziegler F, Mathis S, Gauthier-Darnis M, Puget S.

Biomed Res Int. 2018 Mar 15;2018:8147251. doi: 10.1155/2018/8147251. eCollection 2018.

11.

Electromyography of neck and shoulder muscles in instrumental musicians with musculoskeletal pain compared to asymptomatic controls: A systematic review and meta-analysis.

Overton M, Du Plessis H, Sole G.

Musculoskelet Sci Pract. 2018 Aug;36:32-42. doi: 10.1016/j.msksp.2018.04.001. Epub 2018 Apr 7. Review.

PMID:
29727802
12.

Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis.

Le Masson G, Solé G, Desnuelle C, Delmont E, Gauthier-Darnis M, Puget S, Durand-Zaleski I.

Brain Behav. 2018 Jan 26;8(2):e00923. doi: 10.1002/brb3.923. eCollection 2018 Feb.

13.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12.

PMID:
29478820
14.

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
15.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30. No abstract available.

PMID:
29353221
16.

Acute Brachial Radiculoplexopathy and Giant Cell Arteritis.

Duval F, Lacoste I, Galli G, Chaumont H, Solé G, Léger F, Damon-Perrière N, Rouanet M, Le Masson G, Mathis S.

Neurologist. 2018 Jan;23(1):23-28. doi: 10.1097/NRL.0000000000000162.

PMID:
29266041
17.

History and current difficulties in classifying inherited myopathies and muscular dystrophies.

Mathis S, Tazir M, Magy L, Duval F, Le Masson G, Duchesne M, Couratier P, Ghorab K, Solé G, Lacoste I, Goizet C, Vallat JM.

J Neurol Sci. 2018 Jan 15;384:50-54. doi: 10.1016/j.jns.2017.10.051. Epub 2017 Nov 2.

PMID:
29249377
18.

Chronic inflammatory demyelinating polyradiculoneuropathy-causing myelopathy.

Mathis S, Duval F, Solé G, Tourdias T, Le Masson G.

Muscle Nerve. 2018 Feb;57(2):E102-E103. doi: 10.1002/mus.25756. Epub 2017 Aug 17. No abstract available.

PMID:
28786217
19.

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.

Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P.

Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1.

20.

Age-related plantar centre of pressure trajectory changes during barefoot walking.

Sole G, Pataky T, Sole CC, Hale L, Milosavljevic S.

Gait Posture. 2017 Sep;57:188-192. doi: 10.1016/j.gaitpost.2017.06.016. Epub 2017 Jun 21.

PMID:
28654792

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