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Auteur Quinlivan R |
Documents disponibles écrits par cet auteur (55)



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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Type de document : Article Auteurs : Scalco RS ; Lucia A ; Santalla A ; Martinuzzi A ; Vavla M ; Reni G ; Toscano A ; Musumeci O ; Voermans NC ; Kouwenberg CV ; Laforêt P ; San-Millán B ; Viéitez I ; Siciliano G ; Kühnle E ; Trost R ; Sacconi S ; Stemmerik MG ; Durmus H ; Kierdaszuk B ; Wakelin A ; Andreu AL ; Pinos T ; Marti R ; Quinlivan R ; Vissing J Année de publication : 24/11/2020 Pages : p 330 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33234167 / DOI : 10.1186/s13023-020-01562-x
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33234167 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinos T, Andreu AL, Bruno C, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 187
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Type de document : Article Auteurs : Pinos T ; Andreu AL ; Bruno C ; Hadjigeorgiou GM ; Haller RG ; Laforêt P ; Lucia A ; Martin MA ; Martinuzzi A ; Navarro C ; Oflazer P ; Pouget J ; Quinlivan R ; Sacconi S ; Scalco RS ; Toscano A ; Vissing J ; Vorgerd M ; Wakelin A ; Marti R Année de publication : 15/10/2020 Pages : p 187 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33054807 / DOI : 10.1186/s13023-020-01455-z
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33054807 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Cardiorespiratory progression over 5 years and role of corticosteroids in DMD: a single site retrospective longitudinal study
Trucco F, Domingos J, Tay CG, et al.
Chest, 2020
Revue : Chest Titre : Cardiorespiratory progression over 5 years and role of corticosteroids in DMD: a single site retrospective longitudinal study Type de document : Article Auteurs : Trucco F, Auteur ; Domingos J ; Tay CG ; Ridout D ; Maresh K ; Munot P ; Sarkozy A ; Robb S ; Quinlivan R ; Riley M ; Burch M ; Fenton M ; Wallis C ; Chan E ; Abel F ; Manzur A ; Muntoni F Editeur : United States Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32387519 / DOI : 10.1016/j.chest.2020.04.043
N° Profil MNM : 2020051 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32387519 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study
Lokken N, Hansen KK, Storgaard JH, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study Type de document : Article Auteurs : Lokken N, Auteur ; Hansen KK ; Storgaard JH ; Orngreen MC ; Quinlivan R ; Vissing J Editeur : United States Année de publication : 02/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32060930 / DOI : 10.1002/jimd.12223
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32060930 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Results of an open label feasibility study of sodium valproate in people with McArdle disease
Scalco RS, Stemmerik M, Lokken N, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 734
Revue : Neuromuscular disorders : NMD, 30, 9 Titre : Results of an open label feasibility study of sodium valproate in people with McArdle disease Type de document : Article Auteurs : Scalco RS ; Stemmerik M ; Lokken N ; Vissing CR ; Madsen KL ; Michalak Z ; Pattni J ; Godfrey R ; Samandouras G ; Bassett P ; Holton JL ; Krag T ; Haller RG ; Sewry C ; Wigley R ; Vissing J ; Quinlivan R Editeur : England Année de publication : 2020 Pages : p 734 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32811700 / DOI : 10.1016/j.nmd.2020.04.009
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32811700 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Reference values for the 12 minute walk test in McArdle patients
Pattni J, Godfrey R, Chatfield S, et al.
Neuromuscular disorders : NMD, 2020
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No effect of triheptanoin on exercise performance in McArdle disease
Madsen KL, Laforêt P, Buch AE, et al.
Annals of clinical and translational neurology, 2019
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Lornage X, Schartner V, Balbueno I, et al.
Acta neuropathologica communications, 2019, 7, 1, p 138
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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
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"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini A, Quinlivan R, Sansone VA, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 126
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Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp : 236th ENMC International Workshop, The Netherlands, 1-3 June 2018
Wong SC, Straub V, Ward LM, et al.
Neuromuscular disorders : NMD, 2019, 29, 3, p 251
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Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
Mahroo OA, Mahroo OA, Khan KN, et al.
Ophthalmology, 2018
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Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy
Bourke JP, Bueser T, Quinlivan R
The Cochrane database of systematic reviews, 2018, 10, 10
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Resistance Exercise Training in McArdle Disease: Myth or Reality?
Pietrusz A, Scalco RS, Quinlivan R
Case reports in neurological medicine, 2018, 9658251
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Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints
Kouwenberg CV, Kouwenberg CV, Voermans NC, et al.
Journal of Neuromuscular Diseases, 2018, 5, 3, p 353
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Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews E, Neuwirth C, Jaffer F, et al.
Neurology, 2018, 90, 5, p 412
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GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Desikan M, Scalco RS, Manole A, et al.
Neuromuscular disorders : NMD, 2018, 28, 4, p 346
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Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care : Actes de colloque - 211th ENMC International Workshop, 17-19th April 2015 Naarden, Netherlands
Quinlivan R, Andreu AL, Marti R
Neuromuscular disorders : NMD, 2017, 27, 12, p 1143
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Misdiagnosis is an important factor for diagnostic delay in McArdle disease
Scalco RS, Morrow JM, Booth S, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 852
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Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy
Bell JM, Shields MD, Watters J, et al.
The Cochrane database of systematic reviews, 2017, 1, 1
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Vitamin D in corticosteroid-naive and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?
Alshaikh N, Brunklaus A, Davis T, et al.
Archives of disease in childhood, 2016, 101, 10, p 957
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Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
Scalco RS, Snoeck M, Quinlivan R, et al.
BMJ open sport & exercise medicine, 2016, 2, 1
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Skeletal muscle disorders of glycogenolysis and glycolysis
Godfrey R, Quinlivan R
Nature reviews. Neurology, 2016, 12, 7, p 393
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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Scalco RS, Gardiner AR, Pitceathly RD, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 504
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McArdle Disease Misdiagnosed as Meningitis
Scalco RS, Chatfield S, Junejo MH, et al.
The American journal of case reports, 2016, 17, p 905
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