S Quijano-Roy
Overview
Explore the profile of S Quijano-Roy including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
19
Citations
255
Followers
0
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Recent Articles
1.
Salort-Campana E, Quijano-Roy S
Arch Pediatr
. 2020 Dec;
27(7S):7S23-7S28.
PMID: 33357593
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation....
2.
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, Leturcq F, Malfatti E, Behin A, et al.
Eur J Neurol
. 2020 Oct;
28(2):660-669.
PMID: 33051934
Background And Purpose: To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD-R3, R4, and R5) and study phenotypic correlations and disease progression. Methods: A multicentric...
3.
Blin-Rochemaure N, Allani-Essid N, Carlier R, Laugel V, Quijano-Roy S
Arch Pediatr
. 2017 Mar;
24(4):353-359.
PMID: 28258862
Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS...
4.
Mazuet C, Yoon E, Boyer S, Pignier S, Blanc T, Doehring I, et al.
Clin Microbiol Infect
. 2016 Apr;
22(7):644.e7-644.e12.
PMID: 27108966
The clinical course of a case of infant botulism was characterized by several relapses despite therapy with amoxicillin and metronidazole. Botulism was confirmed by identification of botulinum toxin and Clostridium...
5.
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, et al.
Neuromuscul Disord
. 2013 Dec;
24(2):125-33.
PMID: 24314752
Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the...
6.
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grunewald S, Anselm I, et al.
J Med Genet
. 2013 May;
50(7):463-72.
PMID: 23644449
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype...
7.
Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, et al.
Neuromuscul Disord
. 2012 Dec;
23(2):139-48.
PMID: 23219352
Upper limb assessment in non-ambulant patients remains a challenge. We have designed new tools to precisely assess pinch (MyoPinch), grip (MyoGrip), wrist flexion and extension (MyoWrist) strength. We have also...
8.
Ohana M, Quijano-Roy S, Colas F, Lebreton C, Vallee C, Carlier R
Diagn Interv Imaging
. 2012 May;
93(5):398-400.
PMID: 22542206
No abstract available.
9.
Romero N, Lehtokari V, Quijano-Roy S, Monnier N, Claeys K, Carlier R, et al.
Neurology
. 2009 Oct;
73(14):1159-61.
PMID: 19805734
No abstract available.
10.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, et al.
Am J Med Genet A
. 2009 Sep;
149A(10):2173-80.
PMID: 19764032
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among...