Richard P - Search Results

1

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M. van der Kooi AJ, et al. Among authors: richard p. Neurology. 2002 Aug 27;59(4):620-3. doi: 10.1212/wnl.59.4.620. Neurology. 2002. PMID: 12196663

2

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G. Ben Yaou R, et al. Among authors: richard p. Neurology. 2007 May 29;68(22):1883-94. doi: 10.1212/01.wnl.0000263138.57257.6a. Neurology. 2007. PMID: 17536044

3

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

Ben Yaou R, Bécane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G. Ben Yaou R, et al. Among authors: richard p. Rev Neurol (Paris). 2005 Jan;161(1):42-54. doi: 10.1016/s0035-3787(05)84972-0. Rev Neurol (Paris). 2005. PMID: 15678000 French.

4

Heart involvement in lamin A/C related diseases.

Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G. Ben Yaou R, et al. Among authors: richard p. Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Arch Mal Coeur Vaiss. 2006. PMID: 17067107 Review.

5

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X. Goizet C, et al. Among authors: richard p. J Med Genet. 2004 Mar;41(3):e29. doi: 10.1136/jmg.2003.013383. J Med Genet. 2004. PMID: 14985400 Free PMC article. No abstract available.

6

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.

Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. Mercuri E, et al. Among authors: richard p. Muscle Nerve. 2005 May;31(5):602-9. doi: 10.1002/mus.20293. Muscle Nerve. 2005. PMID: 15770669

7

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. D'Amico A, et al. Among authors: richard p. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006. Neuromuscul Disord. 2005. PMID: 15961312

8

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC. Muntoni F, et al. Among authors: richard p. Brain. 2006 May;129(Pt 5):1260-8. doi: 10.1093/brain/awl062. Epub 2006 Apr 3. Brain. 2006. PMID: 16585054

9

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T. Deconinck N, et al. Among authors: richard p. J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22. J Neurol Neurosurg Psychiatry. 2015. PMID: 25535305

10

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T. Deconinck N, et al. Among authors: richard p. Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23. Neuromuscul Disord. 2010. PMID: 20576434

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