Hofmann-Radvanyi H - Search Results

1

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B. Huin V, et al. Among authors: hofmann radvanyi h. J Neurol. 2013 Apr;260(4):998-1003. doi: 10.1007/s00415-012-6740-y. Epub 2012 Nov 16. J Neurol. 2013. PMID: 23161457

2

Specific tau variants in the brains of patients with myotonic dystrophy.

Vermersch P, Sergeant N, Ruchoux MM, Hofmann-Radvanyi H, Wattez A, Petit H, Dwailly P, Delacourte A. Vermersch P, et al. Neurology. 1996 Sep;47(3):711-7. doi: 10.1212/wnl.47.3.711. Neurology. 1996. PMID: 8797469

3

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C. Lavedan C, et al. Am J Hum Genet. 1993 May;52(5):875-83. Am J Hum Genet. 1993. PMID: 8098180 Free PMC article.

4

Myotonic dystrophy: over-expression or/and under-expression? A critical review on a controversial point.

Hofmann-Radvanyi H, Junien C. Hofmann-Radvanyi H, et al. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):497-501. doi: 10.1016/0960-8966(93)90104-r. Neuromuscul Disord. 1993. PMID: 8186700 Review.

5

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.

Hofmann-Radvanyi H, Lavedan C, Rabès JP, Savoy D, Duros C, Johnson K, Junien C. Hofmann-Radvanyi H, et al. Hum Mol Genet. 1993 Aug;2(8):1263-6. doi: 10.1093/hmg/2.8.1263. Hum Mol Genet. 1993. PMID: 7691346

6

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

Lia AS, Seznec H, Hofmann-Radvanyi H, Radvanyi F, Duros C, Saquet C, Blanche M, Junien C, Gourdon G. Lia AS, et al. Among authors: hofmann radvanyi h. Hum Mol Genet. 1998 Aug;7(8):1285-91. doi: 10.1093/hmg/7.8.1285. Hum Mol Genet. 1998. PMID: 9668171

7

Giardia lamblia infection in a patient with myotonic dystrophy.

Mouthon L, Godmer P, Piqueras B, Cohen P, Lortholary O, Hofmann-Radvanyi H, Guillevin L. Mouthon L, et al. Among authors: hofmann radvanyi h. Ann Med Interne (Paris). 2002 Dec;153(8):540-2. Ann Med Interne (Paris). 2002. PMID: 12610429

8

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaïti-Pellié C, Savoy D, Shelbourne P, Duros C, Rabes JP, Dehaupas I, Luce S, et al. Lavedan C, et al. J Med Genet. 1994 Jan;31(1):33-6. doi: 10.1136/jmg.31.1.33. J Med Genet. 1994. PMID: 8151634 Free PMC article.

9

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, Junien C, Gourdon G. Seznec H, et al. Among authors: hofmann radvanyi h. Hum Mol Genet. 2000 May 1;9(8):1185-94. doi: 10.1093/hmg/9.8.1185. Hum Mol Genet. 2000. PMID: 10767343

10

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H. Gourdon G, et al. Among authors: hofmann radvanyi h. Nat Genet. 1997 Feb;15(2):190-2. doi: 10.1038/ng0297-190. Nat Genet. 1997. PMID: 9020847

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