Richard I - Search Results

1

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB. Ávila-Polo R, et al. Among authors: richard i. J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095. J Neuropathol Exp Neurol. 2018. PMID: 30365001 Free article.

2

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.

Fardeau M, Eymard B, Mignard C, Tomé FM, Richard I, Beckmann JS. Fardeau M, et al. Among authors: richard i. Neuromuscul Disord. 1996 Dec;6(6):447-53. doi: 10.1016/s0960-8966(96)00387-2. Neuromuscul Disord. 1996. PMID: 9027854

3

[Miyoshi distal myopathy: specific signs and incidence].

Eymard B, Laforêt P, Tomé FM, Collin H, Leroy JP, Hauw JJ, Richard I, Beckmann J, Fardeau M. Eymard B, et al. Among authors: richard i. Rev Neurol (Paris). 2000 Feb;156(2):161-8. Rev Neurol (Paris). 2000. PMID: 10743015 French.

4

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Haravuori H, et al. Among authors: richard i. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

5

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Hackman P, et al. Among authors: richard i. Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145747 Free PMC article.

6

Touch-down method for high-performance sequencing of polymerase chain reaction products.

Marchand S, Hajdari P, Hackman P, Udd B, Richard I. Marchand S, et al. Among authors: richard i. Anal Biochem. 2003 Apr 15;315(2):270-2. doi: 10.1016/s0003-2697(02)00613-9. Anal Biochem. 2003. PMID: 12689837 No abstract available.

7

Tibial muscular dystrophy in a Belgian family.

Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Van den Bergh PY, et al. Among authors: richard i. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647. Ann Neurol. 2003. PMID: 12891679

8

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Udd B, et al. Among authors: richard i. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Neurology. 2005. PMID: 15728284

9

Zaspopathy in a large classic late-onset distal myopathy family.

Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Griggs R, et al. Among authors: richard i. Brain. 2007 Jun;130(Pt 6):1477-84. doi: 10.1093/brain/awm006. Epub 2007 Mar 2. Brain. 2007. PMID: 17337483

10

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. Carmignac V, et al. Among authors: richard i. Ann Neurol. 2007 Apr;61(4):340-51. doi: 10.1002/ana.21089. Ann Neurol. 2007. PMID: 17444505

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