Lunardi J - Search Results

1

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV. Manning BM, et al. Among authors: lunardi j. Hum Mutat. 1998;11(1):45-50. doi: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1998. PMID: 9450902 No abstract available.

2

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV. Quane KA, et al. Among authors: lunardi j. Genomics. 1994 Sep 1;23(1):236-9. doi: 10.1006/geno.1994.1483. Genomics. 1994. PMID: 7829078

3

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667

4

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J. Lynch PJ, et al. Among authors: lunardi j. Anesthesiology. 1997 Mar;86(3):620-6. doi: 10.1097/00000542-199703000-00014. Anesthesiology. 1997. PMID: 9066328

5

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J. Monnier N, et al. Among authors: lunardi j. Anesthesiology. 2002 Nov;97(5):1067-74. doi: 10.1097/00000542-200211000-00007. Anesthesiology. 2002. PMID: 12411788

6

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, Monsieurs K, Stieglitz P, Heytens L, Fricker R, van Broeckhoven C, Deufel T, Hopkins PM, Lunardi J, Mueller CR. Robinson RL, et al. Among authors: lunardi j. Hum Mol Genet. 1997 Jun;6(6):953-61. doi: 10.1093/hmg/6.6.953. Hum Mol Genet. 1997. PMID: 9175745

7

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926

8

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581. Hum Mol Genet. 2001. PMID: 11709545

9

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Clarke NF, et al. Among authors: lunardi j. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297

10

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599. Hum Mol Genet. 2000. PMID: 11063719

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

158 results

Search Page

Filters