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Items: 21

1.

Cultural flies: Conformist social learning in fruitflies predicts long-lasting mate-choice traditions.

Danchin E, Nöbel S, Pocheville A, Dagaeff AC, Demay L, Alphand M, Ranty-Roby S, van Renssen L, Monier M, Gazagne E, Allain M, Isabel G.

Science. 2018 Nov 30;362(6418):1025-1030. doi: 10.1126/science.aat1590.

PMID:
30498121
2.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.

Richard P, Trollet C, Gidaro T, Demay L, Brochier G, Malfatti E, Tom FM, Fardeau M, Lafor P, Romero N, Martin-N ML, Sol G, Ferrer-Monasterio X, Saint-Guily JL, Eymard B.

J Neuromuscul Dis. 2015 Jun 4;2(2):175-180.

3.

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.

Sabatelli P, Castagnaro S, Tagliavini F, Chrisam M, Sardone F, Demay L, Richard P, Santi S, Maraldi NM, Merlini L, Sandri M, Bonaldo P.

Front Aging Neurosci. 2014 Aug 19;6:215. doi: 10.3389/fnagi.2014.00215. eCollection 2014.

4.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.

Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P.

J Med Genet. 2010 Dec;47(12):795-6. doi: 10.1136/jmg.2010.081034. Epub 2010 Oct 7.

5.

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.

Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM.

Neuromuscul Disord. 2010 Mar;20(3):178-87. doi: 10.1016/j.nmd.2010.01.001. Epub 2010 Feb 4.

PMID:
20133133
6.

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Makri S, Clarke NF, Richard P, Maugenre S, Demay L, Bonne G, Guicheney P.

Neuromuscul Disord. 2009 Jan;19(1):26-8. doi: 10.1016/j.nmd.2008.09.016. Epub 2008 Dec 11.

PMID:
19084400
7.

Heart-hand syndrome of Slovenian type: a new kind of laminopathy.

Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G.

J Med Genet. 2008 Oct;45(10):666-71. doi: 10.1136/jmg.2008.060020. Epub 2008 Jul 8.

PMID:
18611980
8.

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B.

Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.

PMID:
18551513
9.

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.

Neurology. 2007 May 29;68(22):1883-94.

PMID:
17536044
10.

Heart involvement in lamin A/C related diseases.

Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G.

Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Review.

PMID:
17067107
11.

Genetics of laminopathies.

Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G.

Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Review.

PMID:
15773749
12.

[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.

Rev Neurol (Paris). 2005 Jan;161(1):42-54. French.

PMID:
15678000
13.

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K.

Arch Neurol. 2004 May;61(5):690-4.

PMID:
15148145
14.

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.

J Med Genet. 2004 Mar;41(3):e29. No abstract available.

15.

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D.

Neuromuscul Disord. 2002 Dec;12(10):958-63.

PMID:
12467752
16.

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.

Neurology. 2002 Aug 27;59(4):620-3.

PMID:
12196663
17.

Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.

Lupoglazoff JM, Denjoy I, Berthet M, Neyroud N, Demay L, Richard P, Hainque B, Vaksmann G, Klug D, Leenhardt A, Maillard G, Coumel P, Guicheney P.

Circulation. 2001 Feb 27;103(8):1095-101.

PMID:
11222472
18.

C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

Berthet M, Denjoy I, Donger C, Demay L, Hammoude H, Klug D, Schulze-Bahr E, Richard P, Funke H, Schwartz K, Coumel P, Hainque B, Guicheney P.

Circulation. 1999 Mar 23;99(11):1464-70.

PMID:
10086971
19.

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P.

Circ Res. 1999 Feb 19;84(3):290-7.

PMID:
10024302
20.

[Particular effect of RP-7843 (majeptil) in hebephreniacs: existence of a hallucinatory and deliriant activity not exteriorized until then].

DEMAY LAULAN, FOURNIAL P, DEMAY J, ABRAHAM A, ROUDIERE JJ, SCHOCRON G, BRU J.

Ann Med Psychol (Paris). 1960 Jun;118(2):72-6. French. No abstract available.

PMID:
13815793
21.

[Note concerning the use of a new neuroplegic agent, Ro 4-0403, in character disorders of epileptics].

DEMAY LAULAN, FOURNIAL P, DEMAY J, ABRAHAM A, GOASGUEN J, ROUDIERE JJ, SCHOCRON G.

Ann Med Psychol (Paris). 1960 Feb;118(1):333-6. French. No abstract available.

PMID:
13815792

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