Chapon F - Search Results

1

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene].

Fardeau M, Vicart P, Caron A, Chateau D, Chevallay M, Collin H, Chapon F, Duboc D, Eymard B, Tomé FM, Dupret JM, Paulin D, Guicheney P. Fardeau M, et al. Among authors: chapon f. Rev Neurol (Paris). 2000 May;156(5):497-504. Rev Neurol (Paris). 2000. PMID: 10844369 French.

2

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Vicart P, Caron A, Guicheney P, Li Z, Prévost MC, Faure A, Chateau D, Chapon F, Tomé F, Dupret JM, Paulin D, Fardeau M. Vicart P, et al. Among authors: chapon f. Nat Genet. 1998 Sep;20(1):92-5. doi: 10.1038/1765. Nat Genet. 1998. PMID: 9731540

3

Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies.

Caron A, Chapon F. Caron A, et al. Among authors: chapon f. Muscle Nerve. 1999 Aug;22(8):1122-5. doi: 10.1002/(sici)1097-4598(199908)22:8<1122::aid-mus17>3.0.co;2-t. Muscle Nerve. 1999. PMID: 10417796

4

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

Chapon F, Viader F, Fardeau M, Tomé F, Daluzeau N, Berthelin C, Thénint JP, Lechevalier B. Chapon F, et al. Rev Neurol (Paris). 1989;145(6-7):460-5. Rev Neurol (Paris). 1989. PMID: 2552561 Review. French.

5

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. Malfatti E, et al. Among authors: chapon f. Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2. Neuromuscul Disord. 2013. PMID: 24095155

6

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. Laforêt P, et al. Among authors: chapon f. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008051

7

Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study.

Caron A, Viader F, Lechevalier B, Chapon F. Caron A, et al. Among authors: chapon f. Acta Neuropathol. 1995;90(2):150-7. doi: 10.1007/BF00294314. Acta Neuropathol. 1995. PMID: 7484090

8

Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies.

Caron A, Chapon F, Berthelin C, Viader F, Lechevalier B. Caron A, et al. Among authors: chapon f. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):541-6. doi: 10.1016/0960-8966(93)90112-w. Neuromuscul Disord. 1993. PMID: 8186708

9

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C, et al. Plassart E, et al. Among authors: chapon f. Eur J Hum Genet. 1994;2(2):110-24. doi: 10.1159/000472351. Eur J Hum Genet. 1994. PMID: 8044656

10

Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.

Degoul F, Diry M, Viader F, Boitier E, Marsac C, Eymard B, Romero N, Delisle MB, Lechevalier B, Chapon F. Degoul F, et al. Among authors: chapon f. Eur J Neurol. 1995 Dec;2(6):573-9. doi: 10.1111/j.1468-1331.1995.tb00177.x. Eur J Neurol. 1995. PMID: 24283786

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