Browse by UCL people
Group by: Type | Date
Number of items: 26.
Article
De Abreu Zardo, E;
Ziegler, MS;
Serdeira, A;
Severo, CMD;
Frast, RV;
Rech, PR;
Toffolo, L;
... Schwanke, CHA; + view all
(2017)
Applicability of the cobb angle measurement in idiopathic scoliosis using scanned imaging.
Coluna/ Columna
, 16
(1)
pp. 22-24.
10.1590/S1808-185120171601153058.
|
|
Desikan, M;
Scalco, RS;
Manole, A;
Gardiner, A;
schapira, A;
Lachmann, R;
Houlden, H;
... Quinlivan, R; + view all
(2018)
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Neuromuscular Disorders
, 28
(4)
pp. 346-349.
10.1016/j.nmd.2018.01.002.
|
|
Mahroo, OA;
Khan, KN;
Wright, G;
Ockrim, Z;
Scalco, RS;
Robson, AG;
Tufail, A;
... Webster, AR; + view all
(2019)
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
, 126
(2)
pp. 320-322.
10.1016/j.ophtha.2018.09.013.
|
 |
|
Manole, A;
Jaunmuktane, Z;
Hargreaves, I;
Ludtmann, MHR;
Salpietro, V;
Bello, OD;
Pope, S;
... Houlden, H; + view all
(2017)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
, 140
(11)
pp. 2820-2837.
10.1093/brain/awx231.
|
|
Matthews, E;
Neuwirth, C;
Jaffer, F;
Scalco, RS;
Fialho, D;
Parton, M;
Raja Rayan, D;
... Hanna, MG; + view all
(2018)
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology
, 90
(5)
e412-e418.
10.1212/WNL.0000000000004894.
|
|
|
Pietrusz, A;
Scalco, RS;
Quinlivan, R;
(2018)
Resistance Exercise Training in McArdle Disease: Myth or Reality?
Case Reports in Neurological Medicine
, 2018
, Article 9658251. 10.1155/2018/9658251.
|
|
|
Quinlivan, R;
Andreu, AL;
Marti, R;
(2017)
211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Neuromuscular Disorders
, 27
(12)
pp. 1143-1151.
10.1016/j.nmd.2017.09.002.
|
|
|
Scalco, RS;
Chatfield, S;
Junejo, MH;
Booth, S;
Pattni, J;
Godfrey, R;
Quinlivan, R;
(2016)
McArdle Disease Misdiagnosed as Meningitis.
American Journal of Case Reports
, 17
pp. 905-908.
10.12659/AJCR.900967.
|
|
Scalco, RS;
Gardiner, AR;
Pitceathly, RD;
Zanoteli, E;
Becker, J;
Holton, JL;
Houlden, H;
... Quinlivan, R; + view all
(2015)
Rhabdomyolysis: a genetic perspective.
Orphanet Journal of Rare Diseases
, 10
, Article 51. 10.1186/s13023-015-0264-3.
|
|
|
Scalco, RS;
Gardiner, AR;
Pitceathly, RDS;
Hilton-Jones, D;
Schapira, AH;
Turner, C;
Parton, M;
... Quinlivan, R; + view all
(2016)
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies.
Neuromuscular Disorders
, 26
(8)
pp. 504-510.
10.1016/j.nmd.2016.05.006.
|
|
Scalco, RS;
Lorenzoni, PJ;
Lynch, DS;
Martins, WA;
Jungbluth, H;
Quinlivan, R;
Becker, J;
(2017)
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
American Journal of Case Reports
, 18
pp. 17-21.
10.12659/AJCR.900970.
|
|
|
Scalco, RS;
Morrow, JM;
Booth, S;
Chatfield, S;
Godfrey, R;
Quinlivan, R;
(2017)
Misdiagnosis is an important factor for diagnostic delay in McArdle disease.
Neuromuscular Disorders
, 27
(9)
pp. 852-855.
10.1016/j.nmd.2017.04.013.
|
|
Scalco, RS;
Skorupinska, I;
Blochet, C;
Habib, M;
Matthews, E;
Morrow, J;
Hanna, M;
(2016)
Bumetanide in hypokalaemic periodic paralysis: a randomised, double-blind, placebo controlled phase II clinical trial with a crossover design.
Neuromuscular Disorders
, 26
(S2)
, Article P.373. 10.1016/j.nmd.2016.06.402.
|
|
Scalco, RS;
Snoeck, M;
Treves, S;
Quinlivan, R;
Laforet, P;
Jungbluth, H;
Voermans, N;
(2016)
Exertional rhabdomyolysis: Physiological response or manifestation of an underlying myopathy?
BMJ Open Sport & Exercise Medicine
, 2
(1)
, Article e000151. 10.1136/bmjsem-2016-000151.
|
|
|
Scalco, RS;
Voermans, N;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.
European Journal of Neurology
, 23
(S2)
p. 689.
10.1111/ene.13094.
|
|
Scalco, RS;
Voermans, N;
Piercy, R;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a treatment option for RYR1-related rhabdomyolysis.
Neuromuscular Disorders
, 26
(S2)
, Article P.165. 10.1016/j.nmd.2016.06.402.
|
|
Scalco, RS;
Voermans, NC;
Piercy, RJ;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.
European Journal of Neurology
, 23
(8)
e56-e57.
10.1111/ene.13051.
|
|
Schutz, PW;
Scalco, RS;
Barresi, R;
Houlden, H;
Parton, M;
Holton, JL;
(2017)
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Neuromuscular Disorders
, 27
(8)
pp. 738-741.
10.1016/j.nmd.2017.04.012.
|
|
Wigley, R;
Scalco, RS;
Gardiner, A;
Booth, S;
Chatfield, S;
Godfrey, R;
Kirk, R;
... Quinlivan, R; + view all
(2016)
Muscle b-enolase deficiency presenting with different kinetic profiles in muscle tissue.
European Journal of Neurology
, 23
(S2)
p. 689.
10.1111/ene.13094.
|
Report
|
Scalco, Renata S;
Nastasi, Laura;
Hanna, Michael G;
Quinlivan, Ros;
(2017)
Re-audit on Unplanned Hospital Admissions in Patients with Neuromuscular Diseases.
Muscular Dystrophy UK: London, UK.
|
Conference item
|
Godfrey, R;
Scalco, R;
Booth, S;
Ellerton, C;
Kahraman, A;
Chatfield, S;
Desikan, M;
... Quinlivan, R; + view all
(2016)
Effect of a multi-disciplinary approach to diagnosis and management for non-lysosomal skeletal muscle glycogen storage disorders.
Presented at: 21st International Congress of the World Muscle Society, Granada, Spain.
|
|
Scalco, RS;
Morrow, J;
Manole, A;
Skorupinska, I;
Bellin, A;
Ricciardi, F;
Matthews, E;
... Fialho, D; + view all
(2018)
RCT of Bumetanide in Hypokalaemic Periodic Paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure.
Presented at: 11th Annual UK Neuromuscular Translational Research Conference, Cambridge.
|
|
Scalco, RS;
Morrow, J;
Skorupinska, I;
Manole, AA;
Bellin, A;
Ricciardi, F;
Matthews, E;
... Fialho, D; + view all
(2018)
EPR2165: RCT assessing 2mg bumetanide as a therapeutic agent for a focal attack of weakness in Hypokalaemic Periodic Paralysis (HypoPP).
Presented at: 4th Congress of the European Academy of Neurology, Lisbon, Portugal.
|
|
Scalco, RS;
Nastasi, L;
Hanna, MG;
Quinlivan, R;
(2018)
Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS Re-audit.
Presented at: 11th Annual UK Neuromuscular Translational Research Conference, Cambridge, UK.
|
|
Scalco, RS;
Nastasi, L;
Jaffer, F;
Quinlivan, R;
Hanna, MG;
(2018)
EPR1114: Reducing emergency hospital admissions in England: the importance of the co-ordination of care at specialised neuromuscular services.
Presented at: 4th Congress of the European Academy of Neurology, Lisbon, Portugal.
|
Thesis
|
Siciliani Scalco, Renata;
(2018)
Translational Research Studies in Exercise-related Muscle Disorders.
Doctoral thesis (Ph.D), UCL (University College London).
|
