Quijano Roy S - Search Results

1

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Moghadaszadeh B, et al. Among authors: quijano roy s. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

2

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Héraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B. Quijano-Roy S, et al. Neuromuscul Disord. 2002 Jun;12(5):466-75. doi: 10.1016/s0960-8966(01)00331-5. Neuromuscul Disord. 2002. PMID: 12031620

3

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: quijano roy s. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.

4

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.

Muntoni F, Bertini E, Bönnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Körner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. Muntoni F, et al. Among authors: quijano roy s. Neuromuscul Disord. 2002 Nov;12(9):889-96. doi: 10.1016/s0960-8966(02)00068-8. Neuromuscul Disord. 2002. PMID: 12398845 No abstract available.

5

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: quijano roy s. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124

6

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. Muntoni F, et al. Among authors: quijano roy s. Neuromuscul Disord. 2003 Sep;13(7-8):579-88. doi: 10.1016/s0960-8966(03)00072-5. Neuromuscul Disord. 2003. PMID: 12921796 No abstract available.

7

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. Louhichi N, et al. Among authors: quijano roy s. Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2. Neurogenetics. 2004. PMID: 14652796 Free PMC article.

8

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Quijano-Roy S, Renault F, Romero N, Guicheney P, Fardeau M, Estournet B. Quijano-Roy S, et al. Muscle Nerve. 2004 Feb;29(2):292-9. doi: 10.1002/mus.10544. Muscle Nerve. 2004. PMID: 14755496

9

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. Pepe G, et al. Among authors: quijano roy s. Ann Neurol. 2006 Jan;59(1):190-5. doi: 10.1002/ana.20705. Ann Neurol. 2006. PMID: 16278855

10

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: quijano roy s. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977

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