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Items: 1 to 50 of 99

1.

MYO-MRI diagnostic protocols in genetic myopathies.

Chardon JW, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torrón RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group.

Neuromuscul Disord. 2019 Sep 16. pii: S0960-8966(19)31102-2. doi: 10.1016/j.nmd.2019.08.011. [Epub ahead of print] Review.

PMID:
31727541
2.

The Utility and Practice of Electrodiagnostic Testing in the Pediatric Population: An AANEM Consensus Statement.

Kang PB, McMillan HJ, Kuntz NL, Lehky TJ, Alter KE, Fitzpatrick KF, El Kosseifi C, Quijano-Roy S; Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Muscle Nerve. 2019 Nov 14. doi: 10.1002/mus.26752. [Epub ahead of print]

PMID:
31724199
3.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
4.

Myoimaging in Congenital Myopathies.

Carlier RY, Quijano-Roy S.

Semin Pediatr Neurol. 2019 Apr;29:30-43. doi: 10.1016/j.spen.2019.03.019. Epub 2019 Mar 27.

PMID:
31060724
5.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.

PMID:
30868735
6.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.

PMID:
30659139
7.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C.

Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31.

PMID:
30598237
8.

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA.

Muscle Nerve. 2019 Apr;59(4):436-444. doi: 10.1002/mus.26403. Epub 2019 Jan 10.

PMID:
30578674
9.

Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood.

Fayssoil A, Chaffaut C, Ogna A, Stojkovic T, Lamothe L, Mompoint D, Meng P, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Carlier R, Orlikowski D, Amthor H, Quijano Roy S, Crenn P, Chevret S, Eymard B, Lofaso F, Annane D.

J Neuromuscul Dis. 2019;6(1):55-64. doi: 10.3233/JND-180326.

PMID:
30562904
10.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
11.

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial.

Fauroux B, Amaddeo A, Quijano-Roy S, Barnerias C, Desguerre I, Khirani S.

Neuromuscul Disord. 2018 Sep;28(9):731-740. doi: 10.1016/j.nmd.2018.06.013. Epub 2018 Jul 1. Review.

PMID:
30097248
12.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S.

Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.

PMID:
30066418
13.

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I.

Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22.

PMID:
29859652
14.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY.

Eur Radiol. 2018 Dec;28(12):5293-5303. doi: 10.1007/s00330-018-5472-5. Epub 2018 May 25.

PMID:
29802573
15.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
16.

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.

Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.

17.

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.

Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Review.

18.

[Tracheotomy and myopathy: history of an encounter].

Tiberghien D, Gallen C, Quijano-Roy S, Bergounioux J.

Med Sci (Paris). 2017 Nov;33 Hors série n°1:11-15. doi: 10.1051/medsci/201733s103. Epub 2017 Nov 15. French. No abstract available.

19.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
20.

Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies.

Chareyre J, Hully M, Simonnet H, Musset L, Barnerias C, Kossorotoff M, Quijano-Roy S, Desguerre I, Gitiaux C.

Eur J Paediatr Neurol. 2017 Nov;21(6):891-897. doi: 10.1016/j.ejpn.2017.07.005. Epub 2017 Jul 17.

PMID:
28754297
21.

Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.

Khirani S, Dabaj I, Amaddeo A, Olmo Arroyo J, Ropers J, Tirolien S, Coudert V, Estournet B, Fauroux B, Quijano-Roy S.

Pediatr Neurol. 2017 Aug;73:78-87.e1. doi: 10.1016/j.pediatrneurol.2017.04.013. Epub 2017 Apr 20.

PMID:
28668232
22.

Diaphragmatic dysfunction in SEPN1-related myopathy.

Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B.

Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26.

PMID:
28606403
23.

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

Schwartz C, Fischer M, Mamchaoui K, Bigot A, Lok T, Verdier C, Duperray A, Michel R, Holt I, Voit T, Quijano-Roy S, Bonne G, Coirault C.

Sci Rep. 2017 Apr 28;7(1):1253. doi: 10.1038/s41598-017-01324-z.

24.

[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].

Blin-Rochemaure N, Allani-Essid N, Carlier R, Laugel V, Quijano-Roy S.

Arch Pediatr. 2017 Apr;24(4):353-359. doi: 10.1016/j.arcped.2016.12.015. Epub 2017 Feb 28. Review. French.

PMID:
28258862
25.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
26.

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K.

Cardiol Young. 2017 Aug;27(6):1076-1082. doi: 10.1017/S1047951116002079. Epub 2016 Dec 12.

PMID:
27938454
27.

[Diagnostic orientation of « Rigid spine » familial case with whole body muscle MRI].

Cavassa E, Tordjman M, Ferreiro A, Carlier R, Quijano-Roy S.

Med Sci (Paris). 2016 Nov;32 Hors série n°2:14-16. Epub 2016 Nov 21. French. No abstract available.

28.

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.

Catteruccia M, Vuillerot C, Vaugier I, Leclair D, Azzi V, Viollet L, Estournet B, Bertini E, Quijano-Roy S.

J Neuromuscul Dis. 2015 Nov 21;2(4):453-462.

29.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.

Neuromuscul Disord. 2016 Oct;26(10):681-687. doi: 10.1016/j.nmd.2016.07.005. Epub 2016 Jul 25.

PMID:
27546458
30.

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, Nabbout R.

Neurology. 2016 Jul 19;87(3):277-81. doi: 10.1212/WNL.0000000000002859. Epub 2016 Jun 17.

PMID:
27316242
31.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.

32.

A penicillin- and metronidazole-resistant Clostridium botulinum strain responsible for an infant botulism case.

Mazuet C, Yoon EJ, Boyer S, Pignier S, Blanc T, Doehring I, Meziane-Cherif D, Dumant-Forest C, Sautereau J, Legeay C, Bouvet P, Bouchier C, Quijano-Roy S, Pestel-Caron M, Courvalin P, Popoff MR.

Clin Microbiol Infect. 2016 Jul;22(7):644.e7-644.e12. doi: 10.1016/j.cmi.2016.04.011. Epub 2016 Apr 21.

33.

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Gómez-Andrés D, Dabaj I, Mompoint D, Hankiewicz K, Azzi V, Ioos C, Romero NB, Ben Yaou R, Bergounioux J, Bonne G, Richard P, Estournet B, Yves-Carlier R, Quijano-Roy S.

Muscle Nerve. 2016 Aug;54(2):192-202. doi: 10.1002/mus.25018. Epub 2016 Feb 22.

PMID:
26670690
34.

[Are respiratory muscle testing helpful to prompt sleep studies in children with neuromuscular disease?].

Khirani S, Ramirez A, Olmo-Arroyo J, Amaddeo A, Quijano-Roy S, Desguerre I, Fauroux B.

Med Sci (Paris). 2015 Nov;31 Spec No 3:14-7. doi: 10.1051/medsci/201531s304. Epub 2015 Nov 6. Review. French. No abstract available.

35.

[Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis].

Carrasco-Marina ML, Quijano-Roy S, Iglesias-Escalera G, Jorge-Blanco A, Carro-Martinez A, Gutierrez-Cruz N.

Rev Neurol. 2015 Jul 1;61(1):44-6. Spanish. No abstract available.

36.

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.

Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Apr 10;10(4):e0121799. doi: 10.1371/journal.pone.0121799. eCollection 2015.

37.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
38.

The value of respiratory muscle testing in children with neuromuscular disease.

Fauroux B, Quijano-Roy S, Desguerre I, Khirani S.

Chest. 2015 Feb;147(2):552-559. doi: 10.1378/chest.14-0819.

PMID:
25644908
39.

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Feb 2;10(2):e0113999. doi: 10.1371/journal.pone.0113999. eCollection 2015.

40.

The value of respiratory muscle testing in a child with congenital muscular dystrophy.

Khirani S, Dabaj I, Amaddeo A, Ramirez A, Quijano-Roy S, Fauroux B.

Respirol Case Rep. 2014 Sep;2(3):95-8. doi: 10.1002/rcr2.61. Epub 2014 Jun 30.

41.

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V.

Clin Neurophysiol. 2015 Jul;126(7):1435-9. doi: 10.1016/j.clinph.2014.10.014. Epub 2014 Oct 20.

PMID:
25453614
42.

Muscle magnetic resonance imaging: a new diagnostic tool with promising avenues in therapeutic trials.

Quijano-Roy S, Carlier RY.

Neuropediatrics. 2014 Oct;45(5):273-4. doi: 10.1055/s-0034-1389894. Epub 2014 Sep 3. No abstract available.

PMID:
25184740
43.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB.

Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.

PMID:
25070542
44.

Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.

Vuillerot C, Rippert P, Kinet V, Renders A, Jain M, Waite M, Glanzman AM, Girardot F, Hamroun D, Iwaz J, Ecochard R, Quijano-Roy S, Bérard C, Poirot I, Bönnemann CG; CDM MFM Study Group.

Arch Phys Med Rehabil. 2014 Nov;95(11):2086-95. doi: 10.1016/j.apmr.2014.06.005. Epub 2014 Jun 25.

45.

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

Bertrand AT, Ziaei S, Ehret C, Duchemin H, Mamchaoui K, Bigot A, Mayer M, Quijano-Roy S, Desguerre I, Lainé J, Ben Yaou R, Bonne G, Coirault C.

J Cell Sci. 2014 Jul 1;127(Pt 13):2873-84. doi: 10.1242/jcs.144907. Epub 2014 May 7.

46.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

47.

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

48.

Approach to the diagnosis of congenital myopathies.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies.

Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

49.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

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